Stanley F Nelson

Title(s)Professor-in-Residence, Human Genetics
SchoolMedicine
ORCID ORCID Icon0000-0002-2082-3114 Additional info
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    Other Positions
    Title(s)Professor-in-Residence, Pathology and Laboratory Medicine

    Title(s)Professor-in-Residence, Neurology


    Collapse Biography 
    Collapse Education and Training
    University of Michigan, Ann ArborBS05/1982Physics
    Duke University, Durham, NCMD05/1987Medicine
    UCSF, San Francisco, CA06/1990Pediatrics
    UCSF, San Francisco, CA06/1992Pediatric Hematology/Oncology
    Stanford University, Stanford, CA08/1993Postdoc/Genomics

    Collapse Overview 
    Collapse Overview
    Dr. Stanley Nelson holds the Dr. Allen and Charlotte Ginsburg Endowed Chair in Translational Genomics.

    Collapse Research 
    Collapse Research Activities and Funding
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH U01HG007703Jul 1, 2014 - Jun 30, 2022
    Role: Principal Investigator
    Rapid Phenotyping for Rare Variant Discovery in Autism
    NIH R01NS073871Sep 1, 2011 - Aug 31, 2017
    Role: Principal Investigator
    Identification of Enhancers of Therapeutic Exon Skipping for DMD
    NIH RC1AR058333Sep 25, 2009 - Aug 31, 2011
    Role: Co-Principal Investigator
    SNP studies in ADHD linked regions
    NIH R01MH071852Feb 1, 2006 - Jan 31, 2012
    Role: Principal Investigator
    UCLA NINDS/NIMH Microarray Center
    NIH U24NS052108Jul 15, 2005 - May 31, 2011
    Role: Principal Investigator
    UCLA NHLBI Shared Microarray Facilities
    NIH R01HL072367Sep 30, 2002 - Jul 31, 2006
    Role: Principal Investigator
    UCLA NINDS/NIMH Microarray Center
    NIH U24NS043562Jun 1, 2002 - May 31, 2005
    Role: Principal Investigator
    GENE EXPRESSION BASED CLASSIFICATION OF GLIAL TUMORS
    NIH U01CA088127Aug 1, 2000 - Jan 31, 2006
    Role: Principal Investigator
    PROFILING PEDIATRIC MALIGNANCIES BY RDA AND MICROARRAY
    NIH R01CA077038Sep 30, 1997 - Sep 29, 2000
    Role: Principal Investigator
    ADAPTING GENOMIC MISMATCH SCANNING TO HUMAN GENE MAPPING
    NIH R29HG001141Sep 30, 1994 - Jul 31, 1999
    Role: Principal Investigator
    LOCALIZATION OF THE WILMS TUMOR SUSCEPTIBILITY GENE(S)
    NIH K11HD000929May 1, 1991 - Apr 30, 1997
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH T32GM008243Jul 1, 1987 - Jun 30, 2026
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv. 2023 Dec 27. Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV, Undiagnosed Diseases Network, Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. PMID: 38234782; PMCID: PMC10793518.
      View in: PubMed   Mentions:
    2. Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata. Front Cell Dev Biol. 2023; 11:1226707. Ulm JW, Barthélémy F, Nelson SF. PMID: 37664462; PMCID: PMC10469615.
      View in: PubMed   Mentions:
    3. Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. Neurol Genet. 2023 Oct; 9(5):e200090. Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH, for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Networ, Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. PMID: 37560121; PMCID: PMC10409571.
      View in: PubMed   Mentions:
    4. Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD. Front Genet. 2023; 14:1216066. Nieves-Rodriguez S, Barthélémy F, Woods JD, Douine ED, Wang RT, Scripture-Adams DD, Chesmore KN, Galasso F, Miceli MC, Nelson SF. PMID: 37576554; PMCID: PMC10415210.
      View in: PubMed   Mentions:
    5. SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction. Stem Cells. 2023 06 15; 41(6):560-569. Wilkes MC, Chae HD, Scanlon V, Cepika AM, Wentworth EP, Saxena M, Eskin A, Chen Z, Glader B, Grazia Roncarolo M, Nelson SF, Sakamoto KM. PMID: 36987811; PMCID: PMC10267687.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    6. RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis. EMBO Mol Med. 2023 05 08; 15(5):e17078. Wong S, Tan YX, Loh AYT, Tan KY, Lee H, Aziz Z, Nelson SF, Özkan E, Kayserili H, Escande-Beillard N, Reversade B. PMID: 37066513; PMCID: PMC10165362.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    7. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833. Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Undiagnosed Diseases Network, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. PMID: 37013900.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    8. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. bioRxiv. 2023 Feb 07. Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. PMID: 36798371; PMCID: PMC9934537.
      View in: PubMed   Mentions:
    9. RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. Hum Mol Genet. 2022 10 28; 31(21):3729-3740. Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoglu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B. PMID: 35652444.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    10. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex. Nat Commun. 2022 Oct 13; 13(1):6054. Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. PMID: 36229431; PMCID: PMC9559116.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    11. Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue. Commun Biol. 2022 09 19; 5(1):989. Scripture-Adams DD, Chesmore KN, Barthélémy F, Wang RT, Nieves-Rodriguez S, Wang DW, Mokhonova EI, Douine ED, Wan J, Little I, Rabichow LN, Nelson SF, Miceli MC. PMID: 36123393; PMCID: PMC9485160.
      View in: PubMed   Mentions: 7  Translation:HumansAnimalsCells
    12. Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI. Neurology. 2022 11 22; 99(21):e2406-e2416. Barnard AM, Hammers DW, Triplett WT, Kim S, Forbes SC, Willcocks RJ, Daniels MJ, Senesac CR, Lott DJ, Arpan I, Rooney WD, Wang RT, Nelson SF, Sweeney HL, Vandenborne K, Walter GA. PMID: 36240102; PMCID: PMC9687406.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    13. Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia. Exp Hematol. 2022 07; 111:66-78. Wilkes MC, Scanlon V, Shibuya A, Cepika AM, Eskin A, Chen Z, Narla A, Glader B, Roncarolo MG, Nelson SF, Sakamoto KM. PMID: 35460833; PMCID: PMC9255422.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    14. Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels. Front Cell Dev Biol. 2022; 10:830415. Barthélémy F, Santoso JW, Rabichow L, Jin R, Little I, Nelson SF, McCain ML, Miceli MC. PMID: 35465312; PMCID: PMC9020228.
      View in: PubMed   Mentions: 3  
    15. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2022 Feb; 54(2):213. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. PMID: 35064218.
      View in: PubMed   Mentions:    Fields:    
    16. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 01 21; 8(3):eabl5613. Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. PMID: 35044823; PMCID: PMC8769555.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    17. Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy. Front Cardiovasc Med. 2021; 8:798985. Yang JO, Shaybekyan H, Zhao Y, Kang X, Fishbein GA, Khanlou N, Alejos JC, Halnon N, Satou G, Biniwale R, Lee H, Van Arsdell G, Nelson SF, Touma M, UCLA Clinical Genomics Center, UCLA Congenital Heart Defects-BioCore Faculty. PMID: 35071363; PMCID: PMC8770926.
      View in: PubMed   Mentions: 1  
    18. Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. J Mol Med (Berl). 2021 11; 99(11):1623-1638. Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. PMID: 34387706; PMCID: PMC8541947.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    19. Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome. J Med Genet. 2022 07; 59(7):719-722. Huang Y, Grand K, Kimonis V, Butler MG, Jain S, Huang AY, Martinez-Agosto JA, Nelson SF, Sanchez-Lara PA. PMID: 34099539.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    20. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 05 21; 13(1):90. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. PMID: 34020708; PMCID: PMC8140440.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    21. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 08; 23(8):1465-1473. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Undiagnosed Diseases Network, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. PMID: 33833410; PMCID: PMC8354857.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    22. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954; PMCID: PMC8631250.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    23. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 2021 03 18; 16(1):136. Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, UCLA California Center for Rare Disease, Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. PMID: 33736665; PMCID: PMC7977188.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    24. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Am J Med Genet A. 2021 04; 185(4):1076-1080. Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Undiagnosed Diseases Network, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. PMID: 33438828; PMCID: PMC8212414.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    25. Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin. Sci Rep. 2021 01 13; 11(1):1128. Bishop DP, Westerhausen MT, Barthelemy F, Lockwood T, Cole N, Gibbs EM, Crosbie RH, Nelson SF, Miceli MC, Doble PA, Wanagat J. PMID: 33441839; PMCID: PMC7806610.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    26. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2021; 8(2):315-322. Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. PMID: 33361607; PMCID: PMC10497321.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    27. Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6. Development. 2020 11 05; 147(21). Trott J, Alpagu Y, Tan EK, Shboul M, Dawood Y, Elsy M, Wollmann H, Tano V, Bonnard C, Eng S, Narayanan G, Junnarkar S, Wearne S, Strutt J, Kumar A, Tomaz LB, Goy PA, Mzoughi S, Jennings R, Hagoort J, Eskin A, Lee H, Nelson SF, Al-Kazaleh F, El-Khateeb M, Fathallah R, Shah H, Goeke J, Langley SR, Guccione E, Hanley N, De Bakker BS, Reversade B, Dunn NR. PMID: 33033118.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    28. MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy. Front Immunol. 2020; 11:601584. Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ. PMID: 33224153; PMCID: PMC7670069.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    29. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2020 Nov; 22(11):1920. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 32814847.
      View in: PubMed   Mentions:    Fields:    
    30. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Ann Clin Transl Neurol. 2020 11; 7(11):2320-2325. Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R, Undiagnosed Diseases Network, Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. PMID: 33058507; PMCID: PMC7664258.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    31. A well-tolerated core needle muscle biopsy process suitable for children and adults. Muscle Nerve. 2020 12; 62(6):688-698. Barthelemy F, Woods JD, Nieves-Rodriguez S, Douine ED, Wang R, Wanagat J, Miceli MC, Nelson SF. PMID: 32820569; PMCID: PMC7756388.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    32. COVID-19 drug repurposing: Summary statistics on current clinical trials and promising untested candidates. Transbound Emerg Dis. 2021 Mar; 68(2):313-317. Ulm JW, Nelson SF. PMID: 32619318; PMCID: PMC7362058.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCellsPHPublic Health
    33. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Neurol Genet. 2020 Aug; 6(4):e468. Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S, UCLA Clinical Genomics Center. PMID: 32754643; PMCID: PMC7357421.
      View in: PubMed   Mentions: 5  
    34. The frontiers of sequencing in undiagnosed neurodevelopmental diseases. Curr Opin Genet Dev. 2020 12; 65:76-83. Lee H, Nelson SF. PMID: 32599523; PMCID: PMC7749068.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    35. Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition. J Mol Med (Berl). 2020 07; 98(7):1009-1020. Zhao Y, Kang X, Barsegian A, He J, Guzman A, Lau RP, Biniwale R, Wadhra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Grody WW, UCLA Congenital Heart Defects BioCore Faculty, Van Arsdell G, Nelson SF, Touma M. PMID: 32533200; PMCID: PMC7843236.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    36. Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab. N Engl J Med. 2020 06 11; 382(24):2337-2343. Tsai M, Thauland TJ, Huang AY, Bun C, Fitzwater S, Krogstad P, Douine ED, Nelson SF, Lee H, Garcia-Lloret MI, Butte MJ. PMID: 32521134; PMCID: PMC7333509.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    37. Enhanced Methods for Needle Biopsy and Cryopreservation of Skeletal Muscle in Older Adults. J Cytol Histol. 2020; 11(2). Lee CC, Hoang A, Segovia D, Herbst A, Barthelemy F, Gibbs E, Crosbie R, Nelson SF, Miceli C, Wanagat J. PMID: 32566369; PMCID: PMC7304549.
      View in: PubMed   Mentions: 7  
    38. Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome. Mol Genet Metab Rep. 2020 Jun; 23:100582. Yazdani S, Badjatiya A, Dorrani N, Lee H, Grody WW, Nelson SF, Dipple KM. PMID: 32280589; PMCID: PMC7138921.
      View in: PubMed   Mentions: 3  
    39. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Apr; 22(4):822. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 32047287.
      View in: PubMed   Mentions: 2     Fields:    
    40. Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. Neuropathology. 2020 Jun; 40(3):302-307. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network, Nelson SF. PMID: 32037607; PMCID: PMC7317439.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    41. Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human. RNA. 2020 04; 26(4):481-491. Kang X, Zhao Y, Van Arsdell G, Nelson SF, Touma M. PMID: 31953255; PMCID: PMC7075267.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    42. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 05; 22(5):878-888. Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM, Kini U, Mackay JP, Pierson TM. PMID: 31949314; PMCID: PMC7920571.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    43. Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot. J Mol Med (Berl). 2019 12; 97(12):1711-1722. Zhao Y, Kang X, Gao F, Guzman A, Lau RP, Biniwale R, Wadehra M, Reemtsen B, Garg M, Halnon N, Quintero-Rivera F, Van Arsdell G, Coppola G, Nelson SF, Touma M, UCLA Congenital Heart Defects BioCore Faculty. PMID: 31834445; PMCID: PMC7942233.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    44. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. PMID: 31692161; PMCID: PMC7182470.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    45. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    46. Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. Mol Ther Nucleic Acids. 2019 Dec 06; 18:580-589. Barthélémy F, Wang RT, Hsu C, Douine ED, Marcantonio EE, Nelson SF, Miceli MC. PMID: 31678734; PMCID: PMC6838898.
      View in: PubMed   Mentions: 13  
    47. Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature. Neuromuscul Disord. 2019 11; 29(11):863-873. Gibbs EM, Barthélémy F, Douine ED, Hardiman NC, Shieh PB, Khanlou N, Crosbie RH, Nelson SF, Miceli MC. PMID: 31672265; PMCID: PMC7092699.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    48. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854; PMCID: PMC6661012.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    49. Dusp6 is a genetic modifier of growth through enhanced ERK activity. Hum Mol Genet. 2019 01 15; 28(2):279-289. Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM. PMID: 30289454; PMCID: PMC6322066.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    50. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy. J Pediatr. 2019 01; 204:305-313.e14. Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF. PMID: 30579468.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    51. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 12 06; 103(6):948-967. Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M, Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. PMID: 30526868; PMCID: PMC6288279.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    52. Cardiac MRI biomarkers for Duchenne muscular dystrophy. Biomark Med. 2018 11; 12(11):1271-1289. Magrath P, Maforo N, Renella P, Nelson SF, Halnon N, Ennis DB. PMID: 30499689; PMCID: PMC6462870.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    53. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network. PMID: 30304647; PMCID: PMC6481166.
      View in: PubMed   Mentions: 143     Fields:    Translation:HumansAnimals
    54. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019 04; 21(4):850-860. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study, , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 30245513; PMCID: PMC6634310.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    55. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 09 06; 103(3):456. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. PMID: 30193138; PMCID: PMC6128320.
      View in: PubMed   Mentions: 12     Fields:    
    56. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 08 02; 103(2):245-260. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. PMID: 30057031; PMCID: PMC6081494.
      View in: PubMed   Mentions: 33     Fields:    
    57. DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype. Hum Mutat. 2018 09; 39(9):1193-1202. Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. PMID: 29907980; PMCID: PMC6175390.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    58. Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. BMC Med Genomics. 2018 Jun 13; 11(1):53. Rao AR, Nelson SF. PMID: 29898714; PMCID: PMC6001062.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    59. A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. Elife. 2018 05 22; 7. Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B. PMID: 29784083; PMCID: PMC5963920.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    60. Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. PLoS Genet. 2018 05; 14(5):e1007392. Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. PMID: 29768410; PMCID: PMC5955517.
      View in: PubMed   Mentions: 1     Fields:    
    61. Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. Hum Mol Genet. 2018 05 01; 27(9):1642-1653. Kramerova I, Torres JA, Eskin A, Nelson SF, Spencer MJ. PMID: 29528394; PMCID: PMC5905633.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    62. Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. Glycobiology. 2018 05 01; 28(5):276-283. Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS. PMID: 29452367; PMCID: PMC6057529.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    63. Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse. Mol Ther Nucleic Acids. 2018 Jun 01; 11:180-191. Wang DW, Mokhonova EI, Kendall GC, Becerra D, Naeini YB, Cantor RM, Spencer MJ, Nelson SF, Miceli MC. PMID: 29858053; PMCID: PMC5992346.
      View in: PubMed   Mentions: 7  
    64. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biol Sex Differ. 2018 01 30; 9(1):8. Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E. PMID: 29378665; PMCID: PMC5789682.
      View in: PubMed   Mentions: 9     Fields:    Translation:Animals
    65. Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse. Methods Mol Biol. 2018; 1828:309-326. Barthelemy F, Wang D, Nelson SF, Miceli MC. PMID: 30171550.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    66. ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs. Nat Cell Biol. 2018 01; 20(1):46-57. Hicks MR, Hiserodt J, Paras K, Fujiwara W, Eskin A, Jan M, Xi H, Young CS, Evseenko D, Nelson SF, Spencer MJ, Handel BV, Pyle AD. PMID: 29255171; PMCID: PMC5962356.
      View in: PubMed   Mentions: 111     Fields:    Translation:HumansCells
    67. Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings. JAMA Pediatr. 2017 11 01; 171(11):1107-1112. Palmer N, Beam A, Agniel D, Eran A, Manrai A, Spettell C, Steinberg G, Mandl K, Fox K, Nelson SF, Kohane I. PMID: 28973142; PMCID: PMC5710368.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    68. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis. Genome Med. 2017 10 25; 9(1):90. Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. PMID: 29070057; PMCID: PMC5655859.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    69. A Path to Implement Precision Child Health Cardiovascular Medicine. Front Cardiovasc Med. 2017; 4:36. Touma M, Reemtsen B, Halnon N, Alejos J, Finn JP, Nelson SF, Wang Y. PMID: 28620608; PMCID: PMC5451507.
      View in: PubMed   Mentions: 8  
    70. FDA Approval of Eteplirsen for Muscular Dystrophy. JAMA. 2017 04 11; 317(14):1480. Nelson SF, Miceli MC. PMID: 28399245.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    71. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 06; 54(6):399-403. Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. PMID: 28280135.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    72. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. PMID: 28132692; PMCID: PMC5294886.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    73. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. PMID: 28017472; PMCID: PMC5242142.
      View in: PubMed   Mentions: 61     Fields:    Translation:AnimalsCells
    74. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain. 2016 11 01; 139(11):2877-2890. Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. PMID: 27543974; PMCID: PMC5840878.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimalsCells
    75. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016; 1. Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. PMID: 28868155; PMCID: PMC5576364.
      View in: PubMed   Mentions: 29  
    76. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep; 80(3):456-60. Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V, UCLA Clinical Genomics Center, Nelson SF, Martinez-Agosto JA. PMID: 27422356; PMCID: PMC7034636.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    77. Reciprocal Regulation of the Cardiac Epigenome by Chromatin Structural Proteins Hmgb and Ctcf: IMPLICATIONS FOR TRANSCRIPTIONAL REGULATION. J Biol Chem. 2016 07 22; 291(30):15428-46. Monte E, Rosa-Garrido M, Karbassi E, Chen H, Lopez R, Rau CD, Wang J, Nelson SF, Wu Y, Stefani E, Lusis AJ, Wang Y, Kurdistani SK, Franklin S, Vondriska TM. PMID: 27226577; PMCID: PMC4957031.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    78. The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. Elife. 2016 04 29; 5. Praissman JL, Willer T, Sheikh MO, Toi A, Chitayat D, Lin YY, Lee H, Stalnaker SH, Wang S, Prabhakar PK, Nelson SF, Stemple DL, Moore SA, Moremen KW, Campbell KP, Wells L. PMID: 27130732; PMCID: PMC4924997.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansAnimalsCells
    79. The case for eteplirsen: Paving the way for precision medicine. Mol Genet Metab. 2016 06; 118(2):70-1. Miceli MC, Nelson SF. PMID: 27102846.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    80. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia. 2016; 5:8. Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. PMID: 27069622; PMCID: PMC4827216.
      View in: PubMed   Mentions: 22  
    81. Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). Hum Mol Genet. 2016 06 01; 25(11):2194-2207. Kramerova I, Ermolova N, Eskin A, Hevener A, Quehenberger O, Armando AM, Haller R, Romain N, Nelson SF, Spencer MJ. PMID: 27005420; PMCID: PMC5081050.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    82. Demographically-Based Evaluation of Genomic Regions under Selection in Domestic Dogs. PLoS Genet. 2016 Mar; 12(3):e1005851. Freedman AH, Schweizer RM, Ortega-Del Vecchyo D, Han E, Davis BW, Gronau I, Silva PM, Galaverni M, Fan Z, Marx P, Lorente-Galdos B, Ramirez O, Hormozdiari F, Alkan C, Vilà C, Squire K, Geffen E, Kusak J, Boyko AR, Parker HG, Lee C, Tadigotla V, Siepel A, Bustamante CD, Harkins TT, Nelson SF, Marques-Bonet T, Ostrander EA, Wayne RK, Novembre J. PMID: 26943675; PMCID: PMC4778760.
      View in: PubMed   Mentions: 36     Fields:    Translation:Animals
    83. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. Circ Cardiovasc Genet. 2016 Apr; 9(2):130-5. Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR. PMID: 26933038; PMCID: PMC4838535.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    84. Clinical aggressiveness of malignant gliomas is linked to augmented metabolism of amino acids. J Neurooncol. 2016 05; 128(1):57-66. Panosyan EH, Lasky JL, Lin HJ, Lai A, Hai Y, Guo X, Quinn M, Nelson SF, Cloughesy TF, Nghiemphu PL. PMID: 26922345; PMCID: PMC5373108.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    85. A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell. 2016 Apr 07; 18(4):533-40. Young CS, Hicks MR, Ermolova NV, Nakano H, Jan M, Younesi S, Karumbayaram S, Kumagai-Cresse C, Wang D, Zack JA, Kohn DB, Nakano A, Nelson SF, Miceli MC, Spencer MJ, Pyle AD. PMID: 26877224; PMCID: PMC4826286.
      View in: PubMed   Mentions: 208     Fields:    Translation:HumansAnimalsCells
    86. Joint mouse-human phenome-wide association to test gene function and disease risk. Nat Commun. 2016 Feb 02; 7:10464. Wang X, Pandey AK, Mulligan MK, Williams EG, Mozhui K, Li Z, Jovaisaite V, Quarles LD, Xiao Z, Huang J, Capra JA, Chen Z, Taylor WL, Bastarache L, Niu X, Pollard KS, Ciobanu DC, Reznik AO, Tishkov AV, Zhulin IB, Peng J, Nelson SF, Denny JC, Auwerx J, Lu L, Williams RW. PMID: 26833085; PMCID: PMC4740880.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimals
    87. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. Arch Iran Med. 2016 Feb; 19(2):87-91. Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A. PMID: 26838077.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    88. Bone morphogenetic protein 7 sensitizes O6-methylguanine methyltransferase expressing-glioblastoma stem cells to clinically relevant dose of temozolomide. Mol Cancer. 2015 Nov 06; 14:189. Tso JL, Yang S, Menjivar JC, Yamada K, Zhang Y, Hong I, Bui Y, Stream A, McBride WH, Liau LM, Nelson SF, Cloughesy TF, Yong WH, Lai A, Tso CL. PMID: 26546412; PMCID: PMC4636799.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    89. Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients. PLoS One. 2015; 10(10):e0141334. Yong WH, Shabihkhani M, Telesca D, Yang S, Tso JL, Menjivar JC, Wei B, Lucey GM, Mareninov S, Chen Z, Liau LM, Lai A, Nelson SF, Cloughesy TF, Tso CL. PMID: 26506620; PMCID: PMC4624638.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    90. Genomic predictors of remission to antidepressant treatment in geriatric depression using genome-wide expression analyses: a pilot study. Int J Geriatr Psychiatry. 2016 May; 31(5):510-7. Eyre HA, Eskin A, Nelson SF, St Cyr NM, Siddarth P, Baune BT, Lavretsky H. PMID: 26471432; PMCID: PMC5567872.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    91. What can Duchenne Connect teach us about treating Duchenne muscular dystrophy? Curr Opin Neurol. 2015 Oct; 28(5):535-41. Wang RT, Nelson SF. PMID: 26356412; PMCID: PMC4608842.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    92. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 02; 1366(1):49-60. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. PMID: 26250888; PMCID: PMC4744590.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    93. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16; 6:7092. Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D. PMID: 26077881; PMCID: PMC4470332.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    94. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 25944381; PMCID: PMC4613469.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    95. Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. Eur J Hum Genet. 2016 Jan; 24(1):113-9. Brown R, Lee H, Eskin A, Kichaev G, Lohmueller KE, Reversade B, Nelson SF, Pasaniuc B. PMID: 25898925; PMCID: PMC4795218.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    96. Loss of ADAM17 is associated with severe multiorgan dysfunction. Hum Pathol. 2015 Jun; 46(6):923-8. Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG. PMID: 25804906; PMCID: PMC6044207.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    97. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. PMID: 25728775; PMCID: PMC4375619.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    98. Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. Hum Mol Genet. 2015 Jun 01; 24(11):3163-71. Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B. PMID: 25712129; PMCID: PMC4424953.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    99. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637; PMCID: PMC4278636.
      View in: PubMed   Mentions: 465     Fields:    Translation:Humans
    100. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. PMID: 25383892; PMCID: PMC4318895.
      View in: PubMed   Mentions: 79     Fields:    Translation:Humans
    101. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. 2015 Jul; 23(7):963-8. Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. PMID: 25335493; PMCID: PMC4463507.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    102. Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits. PLoS Curr. 2014 Oct 17; 6. Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF. PMID: 25635234; PMCID: PMC4207635.
      View in: PubMed   Mentions: 21  
    103. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. PMID: 25133958; PMCID: PMC4324730.
      View in: PubMed   Mentions: 115     Fields:    Translation:Humans
    104. Interpreting whole-genome sequencing. JAMA. 2014 Jul 16; 312(3):296. Grody WW, Vilain E, Nelson SF. PMID: 25027151.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    105. High-throughput profiling of influenza A virus hemagglutinin gene at single-nucleotide resolution. Sci Rep. 2014 May 13; 4:4942. Wu NC, Young AP, Al-Mawsawi LQ, Olson CA, Feng J, Qi H, Chen SH, Lu IH, Lin CY, Chin RG, Luan HH, Nguyen N, Nelson SF, Li X, Wu TT, Sun R. PMID: 24820965; PMCID: PMC4018626.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    106. PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology. 2014 Jun 10; 82(23):2085-91. Nelson MD, Rader F, Tang X, Tavyev J, Nelson SF, Miceli MC, Elashoff RM, Sweeney HL, Victor RG. PMID: 24808022; PMCID: PMC4118495.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    107. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014 May 01; 15:49. Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. PMID: 24886118; PMCID: PMC4072606.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    108. Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proc Natl Acad Sci U S A. 2014 Apr 22; 111(16):6004-9. Swaggart KA, Demonbreun AR, Vo AH, Swanson KE, Kim EY, Fahrenbach JP, Holley-Cuthrell J, Eskin A, Chen Z, Squire K, Heydemann A, Palmer AA, Nelson SF, McNally EM. PMID: 24717843; PMCID: PMC4000833.
      View in: PubMed   Mentions: 79     Fields:    Translation:AnimalsCells
    109. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014 May; 51(5):294-302. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. PMID: 24676357; PMCID: PMC4429769.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    110. Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins. Brief Bioinform. 2015 Mar; 16(2):255-64. Yourshaw M, Taylor SP, Rao AR, Martín MG, Nelson SF. PMID: 24626529; PMCID: PMC6283364.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    111. Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Hum Mol Genet. 2014 Jul 01; 23(13):3481-9. Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. PMID: 24501278; PMCID: PMC4049306.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    112. Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet. 2014 Jan 20; 15:11. Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB. PMID: 24444108; PMCID: PMC3905103.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    113. Genome sequencing highlights the dynamic early history of dogs. PLoS Genet. 2014 Jan; 10(1):e1004016. Freedman AH, Gronau I, Schweizer RM, Ortega-Del Vecchyo D, Han E, Silva PM, Galaverni M, Fan Z, Marx P, Lorente-Galdos B, Beale H, Ramirez O, Hormozdiari F, Alkan C, Vilà C, Squire K, Geffen E, Kusak J, Boyko AR, Parker HG, Lee C, Tadigotla V, Wilton A, Siepel A, Bustamante CD, Harkins TT, Nelson SF, Ostrander EA, Marques-Bonet T, Wayne RK, Novembre J. PMID: 24453982; PMCID: PMC3894170.
      View in: PubMed   Mentions: 216     Fields:    Translation:Animals
    114. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jul; 16(7):510-5. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. PMID: 24406459; PMCID: PMC4079763.
      View in: PubMed   Mentions: 63     Fields:    Translation:Humans
    115. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A. 2014 Jan; 164A(1):164-9. Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S. PMID: 24501762.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    116. Targeted therapy resistance mediated by dynamic regulation of extrachromosomal mutant EGFR DNA. Science. 2014 Jan 03; 343(6166):72-6. Nathanson DA, Gini B, Mottahedeh J, Visnyei K, Koga T, Gomez G, Eskin A, Hwang K, Wang J, Masui K, Paucar A, Yang H, Ohashi M, Zhu S, Wykosky J, Reed R, Nelson SF, Cloughesy TF, James CD, Rao PN, Kornblum HI, Heath JR, Cavenee WK, Furnari FB, Mischel PS. PMID: 24310612; PMCID: PMC4049335.
      View in: PubMed   Mentions: 292     Fields:    Translation:HumansAnimalsCells
    117. Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. J Pediatr Gastroenterol Nutr. 2013 Dec; 57(6):759-67. Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG. PMID: 24280991; PMCID: PMC4170062.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    118. Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways. Front Psychiatry. 2013; 4:154. Kerner B, Rao AR, Christensen B, Dandekar S, Yourshaw M, Nelson SF. PMID: 24348429; PMCID: PMC3842585.
      View in: PubMed   Mentions: 21  
    119. Protective properties of radio-chemoresistant glioblastoma stem cell clones are associated with metabolic adaptation to reduced glucose dependence. PLoS One. 2013; 8(11):e80397. Ye F, Zhang Y, Liu Y, Yamada K, Tso JL, Menjivar JC, Tian JY, Yong WH, Schaue D, Mischel PS, Cloughesy TF, Nelson SF, Liau LM, McBride W, Tso CL. PMID: 24260384; PMCID: PMC3832364.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    120. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013 Aug 23; 341(6148):896-9. Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP. PMID: 23929950; PMCID: PMC3848040.
      View in: PubMed   Mentions: 109     Fields:    Translation:HumansCells
    121. Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. Clin Cancer Res. 2013 Jul 15; 19(14):3856-70. Tanaka K, Eskin A, Chareyre F, Jessen WJ, Manent J, Niwa-Kawakita M, Chen R, White CH, Vitte J, Jaffer ZM, Nelson SF, Rubenstein AE, Giovannini M. PMID: 23714726; PMCID: PMC4331126.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimalsCells
    122. EGFR mutation-induced alternative splicing of Max contributes to growth of glycolytic tumors in brain cancer. Cell Metab. 2013 Jun 04; 17(6):1000-1008. Babic I, Anderson ES, Tanaka K, Guo D, Masui K, Li B, Zhu S, Gu Y, Villa GR, Akhavan D, Nathanson D, Gini B, Mareninov S, Li R, Camacho CE, Kurdistani SK, Eskin A, Nelson SF, Yong WH, Cavenee WK, Cloughesy TF, Christofk HR, Black DL, Mischel PS. PMID: 23707073; PMCID: PMC3679227.
      View in: PubMed   Mentions: 90     Fields:    Translation:HumansAnimalsCells
    123. Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia. BMC Cancer. 2013 Feb 04; 13:55. Chang VY, Basso G, Sakamoto KM, Nelson SF. PMID: 23379653; PMCID: PMC3573941.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    124. Functional consequences of a novel variant of PCSK1. PLoS One. 2013; 8(1):e55065. Pickett LA, Yourshaw M, Albornoz V, Chen Z, Solorzano-Vargas RS, Nelson SF, Martín MG, Lindberg I. PMID: 23383060; PMCID: PMC3557230.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    125. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29; 80(5):438-46. Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. PMID: 23284067; PMCID: PMC3590055.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    126. Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy. Sci Transl Med. 2012 Dec 12; 4(164):164ra160. Kendall GC, Mokhonova EI, Moran M, Sejbuk NE, Wang DW, Silva O, Wang RT, Martinez L, Lu QL, Damoiseaux R, Spencer MJ, Nelson SF, Miceli MC. PMID: 23241744.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    127. Rethinking clinical practice: clinical implementation of exome sequencing. Per Med. 2012 Nov; 9(8):785-787. Lee H, Nelson SF. PMID: 29776228.
      View in: PubMed   Mentions: 2     Fields:    
    128. Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Pediatr Blood Cancer. 2013 Apr; 60(4):570-4. Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. PMID: 23015295; PMCID: PMC4170733.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    129. Identification of retinol binding protein 1 promoter hypermethylation in isocitrate dehydrogenase 1 and 2 mutant gliomas. J Natl Cancer Inst. 2012 Oct 03; 104(19):1458-69. Chou AP, Chowdhury R, Li S, Chen W, Kim AJ, Piccioni DE, Selfridge JM, Mody RR, Chang S, Lalezari S, Lin J, Sanchez DE, Wilson RW, Garrett MC, Harry B, Mottahedeh J, Nghiemphu PL, Kornblum HI, Mischel PS, Prins RM, Yong WH, Cloughesy T, Nelson SF, Liau LM, Lai A. PMID: 22945948; PMCID: PMC3529615.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    130. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet. 2012 Aug 03; 13:67. Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. PMID: 22863181; PMCID: PMC3459799.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    131. Sex-specific influence of DRD2 on ADHD-type temperament in a large population-based birth cohort. Psychiatr Genet. 2012 Aug; 22(4):197-201. Nyman ES, Loukola A, Varilo T, Taanila A, Hurtig T, Moilanen I, Loo S, McGough JJ, Järvelin MR, Smalley SL, Nelson SF, Peltonen L. PMID: 22531292.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    132. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet. 2012 Nov 01; 21(21):4781-92. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. PMID: 22843504; PMCID: PMC3471395.
      View in: PubMed   Mentions: 173     Fields:    Translation:Humans
    133. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. PMID: 22634751; PMCID: PMC3386373.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    134. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13; 44(6):709-13. Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. PMID: 22581230.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimalsCells
    135. High throughput screening for compounds that alter muscle cell glycosylation identifies new role for N-glycans in regulating sarcolemmal protein abundance and laminin binding. J Biol Chem. 2012 Jun 29; 287(27):22759-70. Cabrera PV, Pang M, Marshall JL, Kung R, Nelson SF, Stalnaker SH, Wells L, Crosbie-Watson RH, Baum LG. PMID: 22570487; PMCID: PMC3391114.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    136. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80. Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. PMID: 22522420; PMCID: PMC3371168.
      View in: PubMed   Mentions: 114     Fields:    Translation:HumansCells
    137. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29; 44(6):704-8. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. PMID: 22544365; PMCID: PMC3366034.
      View in: PubMed   Mentions: 123     Fields:    Translation:HumansAnimalsCells
    138. Identification of allele-specific alternative mRNA processing via transcriptome sequencing. Nucleic Acids Res. 2012 Jul; 40(13):e104. Li G, Bahn JH, Lee JH, Peng G, Chen Z, Nelson SF, Xiao X. PMID: 22467206; PMCID: PMC3401465.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    139. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr 06; 90(4):746-51. Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. PMID: 22464252; PMCID: PMC3322224.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    140. Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance. Nat Commun. 2012 Mar 06; 3:724. Shi H, Moriceau G, Kong X, Lee MK, Lee H, Koya RC, Ng C, Chodon T, Scolyer RA, Dahlman KB, Sosman JA, Kefford RF, Long GV, Nelson SF, Ribas A, Lo RS. PMID: 22395615; PMCID: PMC3530385.
      View in: PubMed   Mentions: 318     Fields:    Translation:HumansCells
    141. Genome-wide association study of intelligence: additive effects of novel brain expressed genes. J Am Acad Child Adolesc Psychiatry. 2012 Apr; 51(4):432-440.e2. Loo SK, Shtir C, Doyle AE, Mick E, McGough JJ, McCracken J, Biederman J, Smalley SL, Cantor RM, Faraone SV, Nelson SF. PMID: 22449649.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    142. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar; 14(3):296-305. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. PMID: 22281937; PMCID: PMC3938175.
      View in: PubMed   Mentions: 148     Fields:    Translation:HumansCellsCTClinical Trials
    143. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15; 44(2):193-9. Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. PMID: 22246503; PMCID: PMC3267856.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansAnimalsCells
    144. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26; 366(4):330-8. Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. PMID: 22236196; PMCID: PMC3298368.
      View in: PubMed   Mentions: 163     Fields:    Translation:Humans
    145. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 2011 Dec 04; 44(1):78-84. Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H. PMID: 22138692; PMCID: PMC4310555.
      View in: PubMed   Mentions: 152     Fields:    Translation:Humans
    146. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology. 2011 Nov 15; 77(20):1858; author reply 1858-9. Kyriakides T, Pegoraro E, Hoffman EP, Piva L, Cagnin S, Lanfranchi G, Griggs RC, Nelson SF. PMID: 22084278.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimals
    147. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov; 13(11):913-20. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. PMID: 22005709.
      View in: PubMed   Mentions: 226     Fields:    Translation:HumansCTClinical Trials
    148. Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells. Mol Cancer Res. 2011 Dec; 9(12):1668-85. Liu Y, Ye F, Yamada K, Tso JL, Zhang Y, Nguyen DH, Dong Q, Soto H, Choe J, Dembo A, Wheeler H, Eskin A, Schmid I, Yong WH, Mischel PS, Cloughesy TF, Kornblum HI, Nelson SF, Liau LM, Tso CL. PMID: 22013079; PMCID: PMC3245317.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    149. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet. 2012 Apr; 131(4):565-79. Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S. PMID: 21996756; PMCID: PMC3303079.
      View in: PubMed   Mentions: 99     Fields:    Translation:Humans
    150. Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics. 2011 Oct 01; 27(19):2648-54. Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF. PMID: 21828086; PMCID: PMC3179661.
      View in: PubMed   Mentions: 216     Fields:    Translation:HumansCells
    151. Genomic identification of significant targets in ciliochoroidal melanoma. Invest Ophthalmol Vis Sci. 2011 May 09; 52(6):3018-22. McCannel TA, Burgess BL, Nelson SF, Eskin A, Straatsma BR. PMID: 20688739.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    152. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet. 2011 Feb 27; 43(4):365-9. Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, Lane EB. PMID: 21358634.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    153. Characterization of three cell lines derived from fine needle biopsy of choroidal melanoma with metastatic outcome. Mol Vis. 2011 Feb 25; 17:607-15. Burgess BL, Rao NP, Eskin A, Nelson SF, McCannel TA. PMID: 21386926; PMCID: PMC3049736.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    154. Phenotype sequencing: identifying the genes that cause a phenotype directly from pooled sequencing of independent mutants. PLoS One. 2011 Feb 18; 6(2):e16517. Harper MA, Chen Z, Toy T, Machado IM, Nelson SF, Liao JC, Lee CJ. PMID: 21364744; PMCID: PMC3041756.
      View in: PubMed   Mentions: 9     Fields:    Translation:Cells
    155. Predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology. 2011 Jan 18; 76(3):208-9. Nelson SF, Griggs RC. PMID: 21178098.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    156. SeqWare Query Engine: storing and searching sequence data in the cloud. BMC Bioinformatics. 2010 Dec 21; 11 Suppl 12:S2. O'Connor BD, Merriman B, Nelson SF. PMID: 21210981; PMCID: PMC3040528.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    157. Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. Am J Hum Genet. 2010 Dec 10; 87(6):768-78. Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B. PMID: 21129727; PMCID: PMC2997365.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    158. Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy. Clin Cancer Res. 2011 Mar 15; 17(6):1603-15. Prins RM, Soto H, Konkankit V, Odesa SK, Eskin A, Yong WH, Nelson SF, Liau LM. PMID: 21135147; PMCID: PMC3071163.
      View in: PubMed   Mentions: 231     Fields:    Translation:HumansCellsCTClinical Trials
    159. Biomarkers to predict antidepressant response. Curr Psychiatry Rep. 2010 Dec; 12(6):553-62. Leuchter AF, Cook IA, Hamilton SP, Narr KL, Toga A, Hunter AM, Faull K, Whitelegge J, Andrews AM, Loo J, Way B, Nelson SF, Horvath S, Lebowitz BD. PMID: 20963521; PMCID: PMC2965366.
      View in: PubMed   Mentions: 60     Fields:    Translation:Humans
    160. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature. 2010 Dec 16; 468(7326):973-7. Nazarian R, Shi H, Wang Q, Kong X, Koya RC, Lee H, Chen Z, Lee MK, Attar N, Sazegar H, Chodon T, Nelson SF, McArthur G, Sosman JA, Ribas A, Lo RS. PMID: 21107323; PMCID: PMC3143360.
      View in: PubMed   Mentions: 1078     Fields:    Translation:HumansCells
    161. Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. Genome Biol. 2010; 11(10):R99. Homer N, Nelson SF. PMID: 20932289; PMCID: PMC3218665.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    162. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet. 2010 Oct 08; 87(4):532-7. Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. PMID: 20869035; PMCID: PMC2948790.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    163. Accuracy of phenotyping of autistic children based on Internet implemented parent report. Am J Med Genet B Neuropsychiatr Genet. 2010 Sep; 153B(6):1119-26. Lee H, Marvin AR, Watson T, Piggot J, Law JK, Law PA, Constantino JN, Nelson SF. PMID: 20552678; PMCID: PMC4311721.
      View in: PubMed   Mentions: 74     Fields:    Translation:Humans
    164. Identification of candidate tumor oncogenes by integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimens. Arch Ophthalmol. 2010 Sep; 128(9):1170-7. McCannel TA, Burgess BL, Rao NP, Nelson SF, Straatsma BR. PMID: 20837802.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    165. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15; 19(20):4072-82. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. PMID: 20663923; PMCID: PMC2947401.
      View in: PubMed   Mentions: 306     Fields:    Translation:Humans
    166. Local alignment of generalized k-base encoded DNA sequence. BMC Bioinformatics. 2010 Jun 24; 11:347. Homer N, Nelson SF, Merriman B. PMID: 20576157; PMCID: PMC2911458.
      View in: PubMed   Mentions: 1     Fields:    
    167. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul 15; 466(7304):368-72. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. PMID: 20531469; PMCID: PMC3021798.
      View in: PubMed   Mentions: 1030     Fields:    Translation:HumansCells
    168. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010 Sep; 49(9):898-905.e3. Mick E, Todorov A, Smalley S, Hu X, Loo S, Todd RD, Biederman J, Byrne D, Dechairo B, Guiney A, McCracken J, McGough J, Nelson SF, Reiersen AM, Wilens TE, Wozniak J, Neale BM, Faraone SV. PMID: 20732626; PMCID: PMC3730251.
      View in: PubMed   Mentions: 70     Fields:    Translation:Humans
    169. Osteogenic oxysterol, 20(S)-hydroxycholesterol, induces notch target gene expression in bone marrow stromal cells. J Bone Miner Res. 2010 Apr; 25(4):782-95. Kim WK, Meliton V, Tetradis S, Weinmaster G, Hahn TJ, Carlson M, Nelson SF, Parhami F. PMID: 19839776; PMCID: PMC3153332.
      View in: PubMed   Mentions: 22     Fields:    Translation:AnimalsCells
    170. U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet. 2010 Jan 29; 6(1):e1000832. Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. PMID: 20126413; PMCID: PMC2813426.
      View in: PubMed   Mentions: 144     Fields:    Translation:HumansCells
    171. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M, Merriman B, Nelson SF, Bonafé L, Superti-Furga A, Ikegawa S, Krakow D, Cohn DH, Kirchhausen T, Warman ML, Beier DR. PMID: 20089971; PMCID: PMC3108191.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansAnimalsCells
    172. Disease gene characterization through large-scale co-expression analysis. PLoS One. 2009 Dec 31; 4(12):e8491. Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF. PMID: 20046828; PMCID: PMC2797297.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    173. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics. 2009 Dec 31; 10:646. Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. PMID: 20043857; PMCID: PMC2808330.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    174. BFAST: an alignment tool for large scale genome resequencing. PLoS One. 2009 Nov 11; 4(11):e7767. Homer N, Merriman B, Nelson SF. PMID: 19907642; PMCID: PMC2770639.
      View in: PubMed   Mentions: 241     Fields:    Translation:Humans
    175. Emerging genetic therapies to treat Duchenne muscular dystrophy. Curr Opin Neurol. 2009 Oct; 22(5):532-8. Nelson SF, Crosbie RH, Miceli MC, Spencer MJ. PMID: 19745732; PMCID: PMC2856442.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    176. Fyn and SRC are effectors of oncogenic epidermal growth factor receptor signaling in glioblastoma patients. Cancer Res. 2009 Sep 01; 69(17):6889-98. Lu KV, Zhu S, Cvrljevic A, Huang TT, Sarkaria S, Ahkavan D, Dang J, Dinca EB, Plaisier SB, Oderberg I, Lee Y, Chen Z, Caldwell JS, Xie Y, Loo JA, Seligson D, Chakravari A, Lee FY, Weinmann R, Cloughesy TF, Nelson SF, Bergers G, Graeber T, Furnari FB, James CD, Cavenee WK, Johns TG, Mischel PS. PMID: 19690143; PMCID: PMC2770839.
      View in: PubMed   Mentions: 96     Fields:    Translation:HumansAnimalsCells
    177. Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone. J Neurooncol. 2010 Feb; 96(3):359-67. Kappadakunnel M, Eskin A, Dong J, Nelson SF, Mischel PS, Liau LM, Ngheimphu P, Lai A, Cloughesy TF, Goldin J, Pope WB. PMID: 19655089; PMCID: PMC2808508.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
    178. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep; 41(9):1016-21. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. PMID: 19648921.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansCells
    179. Local alignment of two-base encoded DNA sequence. BMC Bioinformatics. 2009 Jun 09; 10:175. Homer N, Merriman B, Nelson SF. PMID: 19508732; PMCID: PMC2709925.
      View in: PubMed   Mentions: 19     Fields:    Translation:Cells
    180. Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors. J Neurooncol. 2009 Aug; 94(1):1-19. Liu Q, Nguyen DH, Dong Q, Shitaku P, Chung K, Liu OY, Tso JL, Liu JY, Konkankit V, Cloughesy TF, Mischel PS, Lane TF, Liau LM, Nelson SF, Tso CL. PMID: 19468690; PMCID: PMC2705704.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansAnimalsCells
    181. ZBED4, a BED-type zinc-finger protein in the cones of the human retina. Invest Ophthalmol Vis Sci. 2009 Aug; 50(8):3580-8. Saghizadeh M, Akhmedov NB, Yamashita CK, Gribanova Y, Theendakara V, Mendoza E, Nelson SF, Ljubimov AV, Farber DB. PMID: 19369242; PMCID: PMC2848067.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    182. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr; 84(4):542-9. Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. PMID: 19361615; PMCID: PMC2667993.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    183. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet. 2009 Jan; 84(1):72-9. Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. PMID: 19110214; PMCID: PMC2668039.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansCells
    184. Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder. Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 05; 147B(8):1488-94. Lu AT, Ogdie MN, Järvelin MR, Moilanen IK, Loo SK, McCracken JT, McGough JJ, Yang MH, Peltonen L, Nelson SF, Cantor RM, Smalley SL. PMID: 18213623; PMCID: PMC2685476.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    185. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 05; 147B(8):1392-8. Zhou K, Dempfle A, Arcos-Burgos M, Bakker SC, Banaschewski T, Biederman J, Buitelaar J, Castellanos FX, Doyle A, Ebstein RP, Ekholm J, Forabosco P, Franke B, Freitag C, Friedel S, Gill M, Hebebrand J, Hinney A, Jacob C, Lesch KP, Loo SK, Lopera F, McCracken JT, McGough JJ, Meyer J, Mick E, Miranda A, Muenke M, Mulas F, Nelson SF, Nguyen TT, Oades RD, Ogdie MN, Palacio JD, Pineda D, Reif A, Renner TJ, Roeyers H, Romanos M, Rothenberger A, Schäfer H, Sergeant J, Sinke RJ, Smalley SL, Sonuga-Barke E, Steinhausen HC, van der Meulen E, Walitza S, Warnke A, Lewis CM, Faraone SV, Asherson P. PMID: 18988193; PMCID: PMC2890047.
      View in: PubMed   Mentions: 77     Fields:    Translation:HumansCells
    186. Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age. BMC Med Genomics. 2008 Oct 21; 1:52. Lee Y, Scheck AC, Cloughesy TF, Lai A, Dong J, Farooqi HK, Liau LM, Horvath S, Mischel PS, Nelson SF. PMID: 18940004; PMCID: PMC2596165.
      View in: PubMed   Mentions: 127     Fields:    
    187. Genetically defined EWS/FLI1 model system suggests mesenchymal origin of Ewing's family tumors. Lab Invest. 2008 Dec; 88(12):1291-302. Potikyan G, France KA, Carlson MR, Dong J, Nelson SF, Denny CT. PMID: 18838963.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    188. Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis. Radiology. 2008 Oct; 249(1):268-77. Pope WB, Chen JH, Dong J, Carlson MR, Perlina A, Cloughesy TF, Liau LM, Mischel PS, Nghiemphu P, Lai A, Nelson SF. PMID: 18796682; PMCID: PMC2798090.
      View in: PubMed   Mentions: 78     Fields:    Translation:Humans
    189. CBCL pediatric bipolar disorder profile and ADHD: comorbidity and quantitative trait loci analysis. J Am Acad Child Adolesc Psychiatry. 2008 Oct; 47(10):1151-7. McGough JJ, Loo SK, McCracken JT, Dang J, Clark S, Nelson SF, Smalley SL. PMID: 18724256; PMCID: PMC2783759.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    190. Expression profile of CREB knockdown in myeloid leukemia cells. BMC Cancer. 2008 Sep 18; 8:264. Pellegrini M, Cheng JC, Voutila J, Judelson D, Taylor J, Nelson SF, Sakamoto KM. PMID: 18801183; PMCID: PMC2647550.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    191. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet. 2008 Aug 29; 4(8):e1000167. Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW. PMID: 18769715; PMCID: PMC2516199.
      View in: PubMed   Mentions: 373     Fields:    Translation:Humans
    192. Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies. Bioinformatics. 2008 Sep 01; 24(17):1896-902. Homer N, Tembe WD, Szelinger S, Redman M, Stephan DA, Pearson JV, Nelson SF, Craig D. PMID: 18617537; PMCID: PMC2732219.
      View in: PubMed   Mentions: 13     Fields:    Translation:Cells
    193. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug; 40(8):999-1003. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. PMID: 18587396; PMCID: PMC3525077.
      View in: PubMed   Mentions: 105     Fields:    Translation:HumansCells
    194. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug; 135(2):429-37. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. PMID: 18572020; PMCID: PMC2574708.
      View in: PubMed   Mentions: 90     Fields:    Translation:HumansCells
    195. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. PMID: 18369103.
      View in: PubMed   Mentions: 823     Fields:    Translation:HumansCells
    196. Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning. Nature. 2008 Mar 13; 452(7184):215-9. Cokus SJ, Feng S, Zhang X, Chen Z, Merriman B, Haudenschild CD, Pradhan S, Nelson SF, Pellegrini M, Jacobsen SE. PMID: 18278030; PMCID: PMC2377394.
      View in: PubMed   Mentions: 1002     Fields:    Translation:AnimalsCells
    197. Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome. Hum Mutat. 2008 Jan; 29(1):176-81. Stanczak CM, Chen Z, Nelson SF, Suchard M, McCabe ER, McGhee S. PMID: 17694540.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    198. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008 Jan; 82(1):150-9. Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. PMID: 18179893; PMCID: PMC2253955.
      View in: PubMed   Mentions: 393     Fields:    Translation:HumansCells
    199. Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells. J Neurosci Res. 2008 Jan; 86(1):48-60. Nakano I, Masterman-Smith M, Saigusa K, Paucar AA, Horvath S, Shoemaker L, Watanabe M, Negro A, Bajpai R, Howes A, Lelievre V, Waschek JA, Lazareff JA, Freije WA, Liau LM, Gilbertson RJ, Cloughesy TF, Geschwind DH, Nelson SF, Mischel PS, Terskikh AV, Kornblum HI. PMID: 17722061.
      View in: PubMed   Mentions: 90     Fields:    Translation:HumansAnimalsCells
    200. Phenotypic and genetic analysis of a large family with migraine-associated vertigo. Headache. 2008 Nov-Dec; 48(10):1460-7. Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. PMID: 18081823; PMCID: PMC2846425.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    201. Prevalence and psychiatric comorbidity of attention-deficit/hyperactivity disorder in an adolescent Finnish population. J Am Acad Child Adolesc Psychiatry. 2007 Dec; 46(12):1575-83. Smalley SL, McGough JJ, Moilanen IK, Loo SK, Taanila A, Ebeling H, Hurtig T, Kaakinen M, Humphrey LA, McCracken JT, Varilo T, Yang MH, Nelson SF, Peltonen L, Järvelin MR. PMID: 18030079.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansPHPublic Health
    202. ADHD candidate gene study in a population-based birth cohort: association with DBH and DRD2. J Am Acad Child Adolesc Psychiatry. 2007 Dec; 46(12):1614-21. Nyman ES, Ogdie MN, Loukola A, Varilo T, Taanila A, Hurtig T, Moilanen IK, Loo SK, McGough JJ, Järvelin MR, Smalley SL, Nelson SF, Peltonen L. PMID: 18030083.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansPHPublic Health
    203. Detection of a microRNA signal in an in vivo expression set of mRNAs. PLoS One. 2007 Aug 29; 2(8):e804. Liu T, Papagiannakopoulos T, Puskar K, Qi S, Santiago F, Clay W, Lao K, Lee Y, Nelson SF, Kornblum HI, Doyle F, Petzold L, Shraiman B, Kosik KS. PMID: 17726534; PMCID: PMC1950084.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    204. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007 Sep; 39(9):1068-70. Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. PMID: 17660820.
      View in: PubMed   Mentions: 151     Fields:    Translation:HumansCells
    205. Association of progesterone receptor with migraine-associated vertigo. Neurogenetics. 2007 Aug; 8(3):195-200. Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. PMID: 17609999.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    206. Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. 2007 Jun 12; 8:165. Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. PMID: 17565682; PMCID: PMC1906768.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    207. Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2. Clin Cancer Res. 2007 May 01; 13(9):2592-8. Carlson MR, Pope WB, Horvath S, Braunstein JG, Nghiemphu P, Tso CL, Mellinghoff I, Lai A, Liau LM, Mischel PS, Dong J, Nelson SF, Cloughesy TF. PMID: 17473188.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    208. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May; 64(5):749-52. Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. PMID: 17502476.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    209. High density SNP association study of a major autism linkage region on chromosome 17. Hum Mol Genet. 2007 Mar 15; 16(6):704-15. Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. PMID: 17376794.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    210. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat. 2007 Mar; 28(3):235-42. Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER. PMID: 17089405.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    211. Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells. J Biol Chem. 2007 Mar 23; 282(12):8959-68. Dwyer JR, Sever N, Carlson M, Nelson SF, Beachy PA, Parhami F. PMID: 17200122.
      View in: PubMed   Mentions: 131     Fields:    Translation:AnimalsCells
    212. Celsius: a community resource for Affymetrix microarray data. Genome Biol. 2007; 8(6):R112. Day A, Carlson MR, Dong J, O'Connor BD, Nelson SF. PMID: 17570842; PMCID: PMC2394754.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimals
    213. Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med. 2006 Dec; 3(12):e485. Lee JC, Vivanco I, Beroukhim R, Huang JH, Feng WL, DeBiasi RM, Yoshimoto K, King JC, Nghiemphu P, Yuza Y, Xu Q, Greulich H, Thomas RK, Paez JG, Peck TC, Linhart DJ, Glatt KA, Getz G, Onofrio R, Ziaugra L, Levine RL, Gabriel S, Kawaguchi T, O'Neill K, Khan H, Liau LM, Nelson SF, Rao PN, Mischel P, Pieper RO, Cloughesy T, Leahy DJ, Sellers WR, Sawyers CL, Meyerson M, Mellinghoff IK. PMID: 17177598; PMCID: PMC1702556.
      View in: PubMed   Mentions: 166     Fields:    Translation:HumansAnimalsCells
    214. Primary glioblastomas express mesenchymal stem-like properties. Mol Cancer Res. 2006 Sep; 4(9):607-19. Tso CL, Shintaku P, Chen J, Liu Q, Liu J, Chen Z, Yoshimoto K, Mischel PS, Cloughesy TF, Liau LM, Nelson SF. PMID: 16966431.
      View in: PubMed   Mentions: 118     Fields:    Translation:HumansCells
    215. Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids. Proc Natl Acad Sci U S A. 2006 Aug 22; 103(34):12741-6. Gargalovic PS, Imura M, Zhang B, Gharavi NM, Clark MJ, Pagnon J, Yang WP, He A, Truong A, Patel S, Nelson SF, Horvath S, Berliner JA, Kirchgessner TG, Lusis AJ. PMID: 16912112; PMCID: PMC1568918.
      View in: PubMed   Mentions: 174     Fields:    Translation:HumansCells
    216. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul; 79(1):113-9. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. PMID: 16773570; PMCID: PMC1474115.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    217. Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks. BMC Genomics. 2006 Mar 03; 7:40. Carlson MR, Zhang B, Fang Z, Mischel PS, Horvath S, Nelson SF. PMID: 16515682; PMCID: PMC1413526.
      View in: PubMed   Mentions: 185     Fields:    Translation:AnimalsCells
    218. Distinct transcription profiles of primary and secondary glioblastoma subgroups. Cancer Res. 2006 Jan 01; 66(1):159-67. Tso CL, Freije WA, Day A, Chen Z, Merriman B, Perlina A, Lee Y, Dia EQ, Yoshimoto K, Mischel PS, Liau LM, Cloughesy TF, Nelson SF. PMID: 16397228.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansCells
    219. Distinct gene expression profiles in adult mouse heart following targeted MAP kinase activation. Physiol Genomics. 2006 Mar 13; 25(1):50-9. Mitchell S, Ota A, Foster W, Zhang B, Fang Z, Patel S, Nelson SF, Horvath S, Wang Y. PMID: 16368875.
      View in: PubMed   Mentions: 21     Fields:    Translation:Animals
    220. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet. 2006 Jan 15; 15(2):251-8. Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. PMID: 16330481.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    221. FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine. J Lipid Res. 2006 Jan; 47(1):201-14. Lee H, Zhang Y, Lee FY, Nelson SF, Gonzalez FJ, Edwards PA. PMID: 16251721.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansAnimalsCells
    222. Proteinase and growth factor alterations revealed by gene microarray analysis of human diabetic corneas. Invest Ophthalmol Vis Sci. 2005 Oct; 46(10):3604-15. Saghizadeh M, Kramerov AA, Tajbakhsh J, Aoki AM, Wang C, Chai NN, Ljubimova JY, Sasaki T, Sosne G, Carlson MR, Nelson SF, Ljubimov AV. PMID: 16186340; PMCID: PMC1459105.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    223. Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes. J Child Psychol Psychiatry. 2005 Oct; 46(10):1067-73. Todd RD, Huang H, Smalley SL, Nelson SF, Willcutt EG, Pennington BF, Smith SD, Faraone SV, Neuman RJ. PMID: 16178930.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    224. Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. J Cell Biol. 2005 Aug 01; 170(3):413-27. Nakano I, Paucar AA, Bajpai R, Dougherty JD, Zewail A, Kelly TK, Kim KJ, Ou J, Groszer M, Imura T, Freije WA, Nelson SF, Sofroniew MV, Wu H, Liu X, Terskikh AV, Geschwind DH, Kornblum HI. PMID: 16061694; PMCID: PMC2171475.
      View in: PubMed   Mentions: 76     Fields:    Translation:AnimalsCells
    225. Robustness of gene expression profiling in glioma specimen samplings and derived cell lines. Brain Res Mol Brain Res. 2005 May 20; 136(1-2):99-103. Mehrian Shai R, Reichardt JK, Ya-Hsuan H, Kremen TJ, Liau LM, Cloughesy TF, Mischel PS, Nelson SF. PMID: 15893592.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    226. Differential induction of glioblastoma migration and growth by two forms of pleiotrophin. J Biol Chem. 2005 Jul 22; 280(29):26953-64. Lu KV, Jong KA, Kim GY, Singh J, Dia EQ, Yoshimoto K, Wang MY, Cloughesy TF, Nelson SF, Mischel PS. PMID: 15908427.
      View in: PubMed   Mentions: 52     Fields:    Translation:HumansCells
    227. Temperament and character profiles and the dopamine D4 receptor gene in ADHD. Am J Psychiatry. 2005 May; 162(5):906-13. Lynn DE, Lubke G, Yang M, McCracken JT, McGough JJ, Ishii J, Loo SK, Nelson SF, Smalley SL. PMID: 15863792.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    228. Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet. 2005 Jun; 76(6):1050-6. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH. PMID: 15877280; PMCID: PMC1196442.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansCells
    229. Loss of annexin A1 expression in human breast cancer detected by multiple high-throughput analyses. Biochem Biophys Res Commun. 2005 Jan 07; 326(1):218-27. Shen D, Chang HR, Chen Z, He J, Lonsberry V, Elshimali Y, Chia D, Seligson D, Goodglick L, Nelson SF, Gornbein JA. PMID: 15567174.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCTClinical Trials
    230. Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data. Nucleic Acids Res. 2004 Dec 14; 32(22):e180. Le K, Mitsouras K, Roy M, Wang Q, Xu Q, Nelson SF, Lee C. PMID: 15598820; PMCID: PMC545471.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    231. A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat. 2004 Dec; 24(6):536. Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF. PMID: 15532032.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    232. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet. 2004 Dec; 75(6):1117-23. Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. PMID: 15467983; PMCID: PMC1182147.
      View in: PubMed   Mentions: 72     Fields:    Translation:HumansCells
    233. DNA-microarray analysis of brain cancer: molecular classification for therapy. Nat Rev Neurosci. 2004 Oct; 5(10):782-92. Mischel PS, Cloughesy TF, Nelson SF. PMID: 15378038.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansAnimals
    234. Gene expression profiling of gliomas strongly predicts survival. Cancer Res. 2004 Sep 15; 64(18):6503-10. Freije WA, Castro-Vargas FE, Fang Z, Horvath S, Cloughesy T, Liau LM, Mischel PS, Nelson SF. PMID: 15374961.
      View in: PubMed   Mentions: 349     Fields:    Translation:Humans
    235. Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11. Am J Hum Genet. 2004 Oct; 75(4):661-8. Ogdie MN, Fisher SE, Yang M, Ishii J, Francks C, Loo SK, Cantor RM, McCracken JT, McGough JJ, Smalley SL, Nelson SF. PMID: 15297934; PMCID: PMC1182053.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    236. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 04; 304(5676):1509-13. Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. PMID: 15105459; PMCID: PMC1618874.
      View in: PubMed   Mentions: 131     Fields:    Translation:HumansCells
    237. Gene expression profiling identifies molecular subtypes of gliomas. Oncogene. 2003 Jul 31; 22(31):4918-23. Shai R, Shi T, Kremen TJ, Horvath S, Liau LM, Cloughesy TF, Mischel PS, Nelson SF. PMID: 12894235.
      View in: PubMed   Mentions: 138     Fields:    Translation:Humans
    238. Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy. Cancer Biol Ther. 2003 May-Jun; 2(3):242-7. Mischel PS, Nelson SF, Cloughesy TF. PMID: 12878856.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    239. Identification of molecular subtypes of glioblastoma by gene expression profiling. Oncogene. 2003 Apr 17; 22(15):2361-73. Mischel PS, Shai R, Shi T, Horvath S, Lu KV, Choe G, Seligson D, Kremen TJ, Palotie A, Liau LM, Cloughesy TF, Nelson SF. PMID: 12700671.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansCells
    240. A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am J Hum Genet. 2003 May; 72(5):1268-79. Ogdie MN, Macphie IL, Minassian SL, Yang M, Fisher SE, Francks C, Cantor RM, McCracken JT, McGough JJ, Nelson SF, Monaco AP, Smalley SL. PMID: 12687500; PMCID: PMC1180278.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansCells
    241. Evaluation of techniques using amplified nucleic acid probes for gene expression profiling. Biomol Eng. 2003 Mar; 20(3):97-106. Saghizadeh M, Brown DJ, Tajbakhsh J, Chen Z, Kenney MC, Farber DB, Nelson SF. PMID: 12684071.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    242. A genomewide scan for loci involved in attention-deficit/hyperactivity disorder. Am J Hum Genet. 2002 May; 70(5):1183-96. Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. PMID: 11923911; PMCID: PMC447594.
      View in: PubMed   Mentions: 70     Fields:    Translation:HumansCells
    243. Identification of genes required for immortalization in human papillomavirus-infected human oral keratinocytes. Cell Mol Biol (Noisy-le-grand). 2002; 48 Online Pub:OL331-41. Nishitani J, Chen Z, Qin M, Liu F, Chen H, Nelson SF, Liu X. PMID: 12643451.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
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