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Nelson, Stanley F

Title(s)Professor-in-Residence, Human Genetics
Phone3107947981
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    Other Positions
    Title(s)Professor-in-Residence, Pathology And Laboratory Medicine

    Title(s)Professor-in-Residence, Neurology


    Collapse Research 
    Collapse Research Activities and Funding
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH/NHGRI U01HG007703Jul 1, 2014 - Mar 31, 2018
    Role: Principal Investigator
    Rapid Phenotyping for Rare Variant Discovery in Autism
    NIH/NINDS R01NS073871Sep 1, 2011 - Aug 31, 2016
    Role: Principal Investigator
    Identification of Enhancers of Therapeutic Exon Skipping for DMD
    NIH/NIAMS RC1AR058333Sep 25, 2009 - Aug 31, 2011
    Role: Co-Principal Investigator
    SNP studies in ADHD linked regions
    NIH/NIMH R01MH071852Feb 1, 2006 - Jan 31, 2012
    Role: Principal Investigator
    UCLA NINDS/NIMH Microarray Center
    NIH/NINDS U24NS052108Jul 15, 2005 - May 31, 2011
    Role: Principal Investigator
    UCLA NHLBI Shared Microarray Facilities
    NIH/NHLBI R01HL072367Sep 30, 2002 - Jul 31, 2006
    Role: Principal Investigator
    UCLA NINDS/NIMH Microarray Center
    NIH/NINDS U24NS043562Jun 1, 2002 - May 31, 2005
    Role: Principal Investigator
    GENE EXPRESSION BASED CLASSIFICATION OF GLIAL TUMORS
    NIH/NCI U01CA088127Aug 1, 2000 - Jan 31, 2006
    Role: Principal Investigator
    PROFILING PEDIATRIC MALIGNANCIES BY RDA AND MICROARRAY
    NIH/NCI R01CA077038Sep 30, 1997 - Sep 29, 2000
    Role: Principal Investigator
    ADAPTING GENOMIC MISMATCH SCANNING TO HUMAN GENE MAPPING
    NIH/NHGRI R29HG001141Sep 30, 1994 - Jul 31, 1999
    Role: Principal Investigator
    LOCALIZATION OF THE WILMS TUMOR SUSCEPTIBILITY GENE(S)
    NIH/NICHD K11HD000929May 1, 1991 - Jul 31, 1993
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH/NIGMS T32GM008243Jul 1, 1987 - Jun 30, 2020
    Role: Principal Investigator

    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.
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    1. 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, 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. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Feb 12. PMID: 32047287.
      View in: PubMed
    2. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Nelson SF. Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. Neuropathology. 2020 Feb 09. PMID: 32037607.
      View in: PubMed
    3. Kang X, Zhao Y, Van Arsdell G, Nelson SF, Touma M. Ppp1r1b-LncRNA Inhibits PRC2 at Myogenic Regulatory Genes to Promote Cardiac and Skeletal Muscle Development in Mouse and Human. RNA. 2020 Jan 17. PMID: 31953255.
      View in: PubMed
    4. 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, 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. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 Jan 17. PMID: 31949314.
      View in: PubMed
    5. 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. Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot. J Mol Med (Berl). 2019 Dec; 97(12):1711-1722. PMID: 31834445.
      View in: PubMed
    6. 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. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2019 Nov 06. PMID: 31692161.
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    7. 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, Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2019 Oct 14. PMID: 31607746.
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    8. Barthélémy F, Wang RT, Hsu C, Douine ED, Marcantonio EE, Nelson SF, Miceli MC. 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. PMID: 31678734.
      View in: PubMed
    9. Gibbs EM, Barthélémy F, Douine ED, Hardiman NC, Shieh PB, Khanlou N, Crosbie RH, Nelson SF, Miceli MC. 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. PMID: 31672265.
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    10. 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. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. PMID: 30817854.
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    11. 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, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. 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. PMID: 30526868.
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    12. Magrath P, Maforo N, Renella P, Nelson SF, Halnon N, Ennis DB. Cardiac MRI biomarkers for Duchenne muscular dystrophy. Biomark Med. 2018 11; 12(11):1271-1289. PMID: 30499689.
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    13. 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. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647.
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    14. 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. 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. PMID: 29907980.
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    15. Rao AR, Nelson SF. Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. BMC Med Genomics. 2018 Jun 13; 11(1):53. PMID: 29898714.
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    16. 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. A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. Elife. 2018 05 22; 7. PMID: 29784083.
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    17. Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. PLoS Genet. 2018 05; 14(5):e1007392. PMID: 29768410.
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    18. Kramerova I, Torres JA, Eskin A, Nelson SF, Spencer MJ. Calpain 3 and CaMKIIß signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. Hum Mol Genet. 2018 05 01; 27(9):1642-1653. PMID: 29528394.
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    19. Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS. 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. PMID: 29452367.
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    20. Wang DW, Mokhonova EI, Kendall GC, Becerra D, Naeini YB, Cantor RM, Spencer MJ, Nelson SF, Miceli MC. 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. PMID: 29858053.
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    21. Barthelemy F, Wang D, Nelson SF, Miceli MC. Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse. Methods Mol Biol. 2018; 1828:309-326. PMID: 30171550.
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    22. 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. ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs. Nat Cell Biol. 2018 01; 20(1):46-57. PMID: 29255171.
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    23. Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. 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. PMID: 29070057.
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    24. Touma M, Reemtsen B, Halnon N, Alejos J, Finn JP, Nelson SF, Wang Y. A Path to Implement Precision Child Health Cardiovascular Medicine. Front Cardiovasc Med. 2017; 4:36. PMID: 28620608.
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    25. 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, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. 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. PMID: 28132692.
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    26. 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. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain. 2016 11 01; 139(11):2877-2890. PMID: 27543974.
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    27. 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. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016; 1. PMID: 28868155.
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    28. Klein S, Goldman A, Lee H, Ghahremani S, Bhakta V, Nelson SF, Martinez-Agosto JA. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol. 2016 Sep; 80(3):456-60. PMID: 27422356.
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    29. 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. The functional O-mannose glycan on a-dystroglycan contains a phospho-ribitol primed for matriglycan addition. Elife. 2016 04 29; 5. PMID: 27130732.
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    30. Miceli MC, Nelson SF. The case for eteplirsen: Paving the way for precision medicine. Mol Genet Metab. 2016 06; 118(2):70-1. PMID: 27102846.
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    31. 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. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia. 2016; 5:8. PMID: 27069622.
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    32. 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. 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. PMID: 26877224.
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    33. Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A. 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. PMID: 26838077.
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    34. 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. 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. PMID: 26546412.
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    35. Wang RT, Nelson SF. What can Duchenne Connect teach us about treating Duchenne muscular dystrophy? Curr Opin Neurol. 2015 Oct; 28(5):535-41. PMID: 26356412.
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    36. Fogel BL, Lee H, Strom SP, Deignan JL, Nelson SF. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Ann N Y Acad Sci. 2016 02; 1366(1):49-60. PMID: 26250888.
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    37. Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16; 6:7092. PMID: 26077881.
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    38. 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. 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. PMID: 25944381.
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    39. Brown R, Lee H, Eskin A, Kichaev G, Lohmueller KE, Reversade B, Nelson SF, Pasaniuc B. Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. Eur J Hum Genet. 2016 Jan; 24(1):113-9. PMID: 25898925.
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    40. 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, Grody WW, Vilain E, Nelson SF. 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. PMID: 25728775.
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    41. Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B. 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. PMID: 25712129.
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    42. 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. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. PMID: 25326637.
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    43. 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. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. PMID: 25383892.
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    44. 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. 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. PMID: 25635234.
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    45. 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. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. PMID: 25133958.
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    46. 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. High-throughput profiling of influenza A virus hemagglutinin gene at single-nucleotide resolution. Sci Rep. 2014 May 13; 4:4942. PMID: 24820965.
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    47. Nelson MD, Rader F, Tang X, Tavyev J, Nelson SF, Miceli MC, Elashoff RM, Sweeney HL, Victor RG. PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology. 2014 Jun 10; 82(23):2085-91. PMID: 24808022.
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    48. 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. 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. PMID: 24886118.
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    49. Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. 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. PMID: 24676357.
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    50. Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. 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. PMID: 24501278.
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    51. Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB. 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. PMID: 24444108.
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    52. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jul; 16(7):510-5. PMID: 24406459.
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    53. Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG. 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. PMID: 24280991.
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    54. Kerner B, Rao AR, Christensen B, Dandekar S, Yourshaw M, Nelson SF. Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways. Front Psychiatry. 2013; 4:154. PMID: 24348429.
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    55. Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013 Aug 23; 341(6148):896-9. PMID: 23929950.
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    56. 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. Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. Clin Cancer Res. 2013 Jul 15; 19(14):3856-70. PMID: 23714726.
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    57. Chang VY, Basso G, Sakamoto KM, Nelson SF. Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia. BMC Cancer. 2013 Feb 04; 13:55. PMID: 23379653.
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    58. 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. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29; 80(5):438-46. PMID: 23284067.
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    59. 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. Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy. Sci Transl Med. 2012 Dec 12; 4(164):164ra160. PMID: 23241744.
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    60. Lee H, Nelson SF. Rethinking clinical practice: clinical implementation of exome sequencing. Per Med. 2012 Nov; 9(8):785-787. PMID: 29776228.
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    61. Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome. Pediatr Blood Cancer. 2013 Apr; 60(4):570-4. PMID: 23015295.
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    62. 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. 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. PMID: 22945948.
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    63. Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet. 2012 Aug 03; 13:67. PMID: 22863181.
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    64. 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. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. PMID: 22634751.
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    65. Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13; 44(6):709-13. PMID: 22581230.
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    66. Cabrera PV, Pang M, Marshall JL, Kung R, Nelson SF, Stalnaker SH, Wells L, Crosbie-Watson RH, Baum LG. 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. PMID: 22570487.
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    67. 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. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80. PMID: 22522420.
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    68. 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. 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. PMID: 22544365.
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    69. Li G, Bahn JH, Lee JH, Peng G, Chen Z, Nelson SF, Xiao X. Identification of allele-specific alternative mRNA processing via transcriptome sequencing. Nucleic Acids Res. 2012 Jul; 40(13):e104. PMID: 22467206.
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    70. Lee H, Graham JM, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr 06; 90(4):746-51. PMID: 22464252.
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    71. 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. Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance. Nat Commun. 2012 Mar 06; 3:724. PMID: 22395615.
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    72. 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. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26; 366(4):330-8. PMID: 22236196.
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    73. 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. 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. PMID: 22013079.
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    74. Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF. Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics. 2011 Oct 01; 27(19):2648-54. PMID: 21828086.
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    75. McCannel TA, Burgess BL, Nelson SF, Eskin A, Straatsma BR. Genomic identification of significant targets in ciliochoroidal melanoma. Invest Ophthalmol Vis Sci. 2011 May 09; 52(6):3018-22. PMID: 20688739.
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    76. 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. 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. PMID: 21358634.
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    77. Burgess BL, Rao NP, Eskin A, Nelson SF, McCannel TA. Characterization of three cell lines derived from fine needle biopsy of choroidal melanoma with metastatic outcome. Mol Vis. 2011 Feb 25; 17:607-15. PMID: 21386926.
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    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. 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. PMID: 21129727.
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    79. Prins RM, Soto H, Konkankit V, Odesa SK, Eskin A, Yong WH, Nelson SF, Liau LM. 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. PMID: 21135147.
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    80. 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. Biomarkers to predict antidepressant response. Curr Psychiatry Rep. 2010 Dec; 12(6):553-62. PMID: 20963521.
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    81. 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. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature. 2010 Dec 16; 468(7326):973-7. PMID: 21107323.
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    82. Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. 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. PMID: 20869035.
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    83. Homer N, Nelson SF. Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA. Genome Biol. 2010; 11(10):R99. PMID: 20932289.
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    84. Lee H, Marvin AR, Watson T, Piggot J, Law JK, Law PA, Constantino JN, Nelson SF. 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. PMID: 20552678.
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    85. Homer N, Nelson SF, Merriman B. Local alignment of generalized k-base encoded DNA sequence. BMC Bioinformatics. 2010 Jun 24; 11:347. PMID: 20576157.
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    86. Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet. 2010 Jan 29; 6(1):e1000832. PMID: 20126413.
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    87. Day A, Dong J, Funari VA, Harry B, Strom SP, Cohn DH, Nelson SF. Disease gene characterization through large-scale co-expression analysis. PLoS One. 2009 Dec 31; 4(12):e8491. PMID: 20046828.
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    88. Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics. 2009 Dec 31; 10:646. PMID: 20043857.
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    89. Homer N, Merriman B, Nelson SF. BFAST: an alignment tool for large scale genome resequencing. PLoS One. 2009 Nov 11; 4(11):e7767. PMID: 19907642.
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    90. Kappadakunnel M, Eskin A, Dong J, Nelson SF, Mischel PS, Liau LM, Ngheimphu P, Lai A, Cloughesy TF, Goldin J, Pope WB. Stem cell associated gene expression in glioblastoma multiforme: relationship to survival and the subventricular zone. J Neurooncol. 2010 Feb; 96(3):359-67. PMID: 19655089.
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    91. 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. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009 Sep; 41(9):1016-21. PMID: 19648921.
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    92. Homer N, Merriman B, Nelson SF. Local alignment of two-base encoded DNA sequence. BMC Bioinformatics. 2009 Jun 09; 10:175. PMID: 19508732.
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    93. 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. Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors. J Neurooncol. 2009 Aug; 94(1):1-19. PMID: 19468690.
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    94. 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. 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. PMID: 19361615.
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    95. Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. 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. PMID: 19110214.
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    96. Lu AT, Ogdie MN, Järvelin MR, Moilanen IK, Loo SK, McCracken JT, McGough JJ, Yang MH, Peltonen L, Nelson SF, Cantor RM, Smalley SL. 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. PMID: 18213623.
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    97. Lee Y, Scheck AC, Cloughesy TF, Lai A, Dong J, Farooqi HK, Liau LM, Horvath S, Mischel PS, Nelson SF. 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. PMID: 18940004.
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    98. Potikyan G, France KA, Carlson MR, Dong J, Nelson SF, Denny CT. Genetically defined EWS/FLI1 model system suggests mesenchymal origin of Ewing's family tumors. Lab Invest. 2008 Dec; 88(12):1291-302. PMID: 18838963.
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    99. Pope WB, Chen JH, Dong J, Carlson MR, Perlina A, Cloughesy TF, Liau LM, Mischel PS, Nghiemphu P, Lai A, Nelson SF. Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis. Radiology. 2008 Oct; 249(1):268-77. PMID: 18796682.
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    100. Pellegrini M, Cheng JC, Voutila J, Judelson D, Taylor J, Nelson SF, Sakamoto KM. Expression profile of CREB knockdown in myeloid leukemia cells. BMC Cancer. 2008 Sep 18; 8:264. PMID: 18801183.
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    101. 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. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug; 40(8):999-1003. PMID: 18587396.
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    102. 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. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug; 135(2):429-37. PMID: 18572020.
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    103. Cokus SJ, Feng S, Zhang X, Chen Z, Merriman B, Haudenschild CD, Pradhan S, Nelson SF, Pellegrini M, Jacobsen SE. Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning. Nature. 2008 Mar 13; 452(7184):215-9. PMID: 18278030.
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    104. Stanczak CM, Chen Z, Nelson SF, Suchard M, McCabe ER, McGhee S. 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. PMID: 17694540.
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    105. 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. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008 Jan; 82(1):150-9. PMID: 18179893.
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    106. Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Phenotypic and genetic analysis of a large family with migraine-associated vertigo. Headache. 2008 Nov-Dec; 48(10):1460-7. PMID: 18081823.
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    107. 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. 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. PMID: 18030079.
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    108. 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. 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. PMID: 17660820.
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    109. Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. Association of progesterone receptor with migraine-associated vertigo. Neurogenetics. 2007 Aug; 8(3):195-200. PMID: 17609999.
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    110. Funari VA, Day A, Krakow D, Cohn ZA, Chen Z, Nelson SF, Cohn DH. Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC Genomics. 2007 Jun 12; 8:165. PMID: 17565682.
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    111. 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. 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. PMID: 17473188.
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    112. Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May; 64(5):749-52. PMID: 17502476.
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    113. Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. High density SNP association study of a major autism linkage region on chromosome 17. Hum Mol Genet. 2007 Mar 15; 16(6):704-15. PMID: 17376794.
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    114. Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat. 2007 Mar; 28(3):235-42. PMID: 17089405.
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    115. Dwyer JR, Sever N, Carlson M, Nelson SF, Beachy PA, Parhami F. Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells. J Biol Chem. 2007 Mar 23; 282(12):8959-68. PMID: 17200122.
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    116. Day A, Carlson MR, Dong J, O'Connor BD, Nelson SF. Celsius: a community resource for Affymetrix microarray data. Genome Biol. 2007; 8(6):R112. PMID: 17570842.
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    117. Tso CL, Shintaku P, Chen J, Liu Q, Liu J, Chen Z, Yoshimoto K, Mischel PS, Cloughesy TF, Liau LM, Nelson SF. Primary glioblastomas express mesenchymal stem-like properties. Mol Cancer Res. 2006 Sep; 4(9):607-19. PMID: 16966431.
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    118. 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. 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. PMID: 16912112.
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    119. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul; 79(1):113-9. PMID: 16773570.
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    120. Carlson MR, Zhang B, Fang Z, Mischel PS, Horvath S, Nelson SF. Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networks. BMC Genomics. 2006 Mar 03; 7:40. PMID: 16515682.
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    121. 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. Distinct transcription profiles of primary and secondary glioblastoma subgroups. Cancer Res. 2006 Jan 01; 66(1):159-67. PMID: 16397228.
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    122. Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. 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. PMID: 16330481.
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    123. Lee H, Zhang Y, Lee FY, Nelson SF, Gonzalez FJ, Edwards PA. FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestine. J Lipid Res. 2006 Jan; 47(1):201-14. PMID: 16251721.
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    124. 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. Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. J Cell Biol. 2005 Aug 01; 170(3):413-27. PMID: 16061694.
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    125. Mehrian Shai R, Reichardt JK, Ya-Hsuan H, Kremen TJ, Liau LM, Cloughesy TF, Mischel PS, Nelson SF. 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. PMID: 15893592.
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    126. Lu KV, Jong KA, Kim GY, Singh J, Dia EQ, Yoshimoto K, Wang MY, Cloughesy TF, Nelson SF, Mischel PS. Differential induction of glioblastoma migration and growth by two forms of pleiotrophin. J Biol Chem. 2005 Jul 22; 280(29):26953-64. PMID: 15908427.
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    127. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH. Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet. 2005 Jun; 76(6):1050-6. PMID: 15877280.
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    128. Shen D, Chang HR, Chen Z, He J, Lonsberry V, Elshimali Y, Chia D, Seligson D, Goodglick L, Nelson SF, Gornbein JA. 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. PMID: 15567174.
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    129. Le K, Mitsouras K, Roy M, Wang Q, Xu Q, Nelson SF, Lee C. Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data. Nucleic Acids Res. 2004 Dec 14; 32(22):e180. PMID: 15598820.
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    130. Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF. A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat. 2004 Dec; 24(6):536. PMID: 15532032.
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    131. Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet. 2004 Dec; 75(6):1117-23. PMID: 15467983.
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    132. Mischel PS, Cloughesy TF, Nelson SF. DNA-microarray analysis of brain cancer: molecular classification for therapy. Nat Rev Neurosci. 2004 Oct; 5(10):782-92. PMID: 15378038.
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    133. Freije WA, Castro-Vargas FE, Fang Z, Horvath S, Cloughesy T, Liau LM, Mischel PS, Nelson SF. Gene expression profiling of gliomas strongly predicts survival. Cancer Res. 2004 Sep 15; 64(18):6503-10. PMID: 15374961.
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    134. Ogdie MN, Fisher SE, Yang M, Ishii J, Francks C, Loo SK, Cantor RM, McCracken JT, McGough JJ, Smalley SL, Nelson SF. Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11. Am J Hum Genet. 2004 Oct; 75(4):661-8. PMID: 15297934.
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    135. 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. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 04; 304(5676):1509-13. PMID: 15105459.
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    136. Shai R, Shi T, Kremen TJ, Horvath S, Liau LM, Cloughesy TF, Mischel PS, Nelson SF. Gene expression profiling identifies molecular subtypes of gliomas. Oncogene. 2003 Jul 31; 22(31):4918-23. PMID: 12894235.
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    137. Mischel PS, Nelson SF, Cloughesy TF. Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy. Cancer Biol Ther. 2003 May-Jun; 2(3):242-7. PMID: 12878856.
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