Sulagna C Saitta

Title(s)HS Clinical Professor, Pediatrics
SchoolMedicine
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    Other Positions
    Title(s)HS Clinical Professor, Obstetrics and Gynecology


    Collapse Research 
    Collapse Research Activities and Funding
    Genetic Analysis of Congenital Cardiac Disease
    NIH R21HL080637Apr 1, 2005 - Mar 31, 2008
    Role: Principal Investigator
    MOLECULAR MECHANISM OF CARDIAC OUTFLOW TRACT DEVELOPMENT
    NIH K08HL004487Apr 15, 2001 - Mar 31, 2007
    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. to make corrections and additions.
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    1. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants. Hum Mol Genet. 2024 Feb 01; 33(4):355-373. Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF. PMID: 37944084; PMCID: PMC10840383.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    2. The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities. Am J Perinatol. 2024 Mar; 41(4):383-394. Francoeur AA, Kang SL, Senaratne TN, Saitta S, Murali A, Peters K, Hansman E, Chen A, Parvataneni R, Patil R, Rible R, Sridhar A, Stoddard A, Zapata M, Krakow D, Pluym ID. PMID: 38154468.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing. JAMA Netw Open. 2023 10 02; 6(10):e2339571. Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S. PMID: 37878314; PMCID: PMC10600581.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome. Pediatr Hematol Oncol. 2023; 40(8):800-806. Na B, Wang AC, Watterson CT, Martinez-Agosto J, Saitta S, Dutra-Clarke M, Bhansali F, Pineles SL, Chang VY, Shah VS, de Blank P. PMID: 37334681.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. Am J Hum Genet. 2023 04 06; 110(4):551-564. Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. PMID: 36933558; PMCID: PMC10119133.
      View in: PubMed   Mentions: 2     Fields:    
    6. Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU. Neoreviews. 2022 Dec 01; 23(12):e829-e840. Senaratne TN, Saitta SC. PMID: 36450644.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    7. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938. Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. PMID: 35355055; PMCID: PMC9630661.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    8. Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. Pediatr Neurol. 2021 01; 114:55-59. Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC. PMID: 33221597.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    9. Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy. J Physiol. 2020 11; 598(22):5245-5269. Pantazis A, Kaneko M, Angelini M, Steccanella F, Westerlund AM, Lindström SH, Nilsson M, Delemotte L, Saitta SC, Olcese R. PMID: 32833227; PMCID: PMC8923147.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    10. A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 04; 5(2). Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. PMID: 30755392; PMCID: PMC6549575.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    11. Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. Cancer Genet. 2019 02; 231-232:62-66. Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA. PMID: 30803559; PMCID: PMC7528629.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    12. Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome). Curr Allergy Asthma Rep. 2018 10 30; 18(12):75. Kuo CY, Signer R, Saitta SC. PMID: 30377837.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    13. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. Am J Med Genet A. 2018 08; 176(8):1711-1722. Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE. PMID: 30055033; PMCID: PMC6107379.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    14. Interstitial Chromosome 3p13p14 Deletions: An Update and Review. Mol Syndromol. 2018 May; 9(3):122-133. Hajek CA, Ji J, Saitta SC. PMID: 29928177; PMCID: PMC6006617.
      View in: PubMed   Mentions: 2  
    15. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 04; 176(4):862-876. Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. PMID: 29460469.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    16. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017 May; 173(5):1390-1395. Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. PMID: 28371217; PMCID: PMC7521841.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    17. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9). Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J, Guerrini R, Dobyns WB. PMID: 27631024; PMCID: PMC5019182.
      View in: PubMed   Mentions: 69     Fields:    Translation:Humans
    18. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 06 02; 98(6):1235-1242. Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. PMID: 27259054; PMCID: PMC4908149.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    19. Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement. Mol Syndromol. 2016 Apr; 7(1):43-8. Hajek C, Wang JC, Mahon LW, Martinez A, Saitta SC. PMID: 27194973; PMCID: PMC4862392.
      View in: PubMed   Mentions: 2  
    20. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14. Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. PMID: 26424144.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    21. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015 Dec; 23(12):1615-26. Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. PMID: 25853300; PMCID: PMC4795197.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    22. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 02; 83(10):898-902. Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. PMID: 25085639; PMCID: PMC4153852.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    23. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 01; 23(11):2888-900. Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. PMID: 24403048; PMCID: PMC4014191.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansCells
    24. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A. 2013 Aug; 161A(8):1929-39. Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. PMID: 23804593; PMCID: PMC4082120.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    25. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A. 2012 Dec; 158A(12):3033-45. Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. PMID: 23169682.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    26. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406. Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. PMID: 21441262; PMCID: PMC5522617.
      View in: PubMed   Mentions: 100     Fields:    Translation:HumansCells
    27. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome. Hum Mutat. 2011 Jan; 32(1):91-7. Busse T, Graham JM, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC. PMID: 21120947.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    28. Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints. Am J Med Genet A. 2010 Dec; 152A(12):3074-83. Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG. PMID: 21108392; PMCID: PMC3058890.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    29. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010 Jul; 152A(7):1621-6. O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. PMID: 20583147.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    30. Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med. 2009 May; 11(5):314-22. Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA. PMID: 19365269.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    31. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet. 2009 Apr 15; 18(8):1377-83. Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. PMID: 19193630; PMCID: PMC2664143.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    32. MAP'ing CNS development and cognition: an ERKsome process. Neuron. 2009 Jan 29; 61(2):160-7. Samuels IS, Saitta SC, Landreth GE. PMID: 19186160; PMCID: PMC3663441.
      View in: PubMed   Mentions: 101     Fields:    Translation:HumansAnimalsCells
    33. Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development. Proc Natl Acad Sci U S A. 2008 Nov 04; 105(44):17115-20. Newbern J, Zhong J, Wickramasinghe RS, Li X, Wu Y, Samuels I, Cherosky N, Karlo JC, O'Loughlin B, Wikenheiser J, Gargesha M, Doughman YQ, Charron J, Ginty DD, Watanabe M, Saitta SC, Snider WD, Landreth GE. PMID: 18952847; PMCID: PMC2579387.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansAnimalsCells
    34. Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring. Am J Med Genet A. 2008 Jul 15; 146A(14):1828-31. Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF. PMID: 18553511.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    35. Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function. J Neurosci. 2008 Jul 02; 28(27):6983-95. Samuels IS, Karlo JC, Faruzzi AN, Pickering K, Herrup K, Sweatt JD, Saitta SC, Landreth GE. PMID: 18596172; PMCID: PMC4364995.
      View in: PubMed   Mentions: 137     Fields:    Translation:AnimalsCells
    36. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15; 143A(24):2981-3008. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM. PMID: 18000912; PMCID: PMC6816457.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    37. From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet. 2007 Nov; 8(11):869-83. Emanuel BS, Saitta SC. PMID: 17943194; PMCID: PMC2858421.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimalsCells
    38. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med. 2007 Sep; 9(9):607-16. Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. PMID: 17873649.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
    39. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007 Apr; 17(4):482-91. Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC. PMID: 17351135; PMCID: PMC1832095.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    40. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9. Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. PMID: 16892302.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    41. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol. 2005 Feb; 11(1):109-17. Bearden CE, Jawad AF, Lynch DR, Monterossso JR, Sokol S, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. PMID: 15846854; PMCID: PMC2810976.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    42. Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry. 2004 Sep; 161(9):1700-2. Bearden CE, Jawad AF, Lynch DR, Sokol S, Kanes SJ, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. PMID: 15337663.
      View in: PubMed   Mentions: 47     Fields:    Translation:HumansCells
    43. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A. 2004 Apr 30; 126A(3):261-6. Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. PMID: 15054839.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    44. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am J Med Genet A. 2004 Jan 30; 124A(3):313-7. Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA. PMID: 14708107; PMCID: PMC2811370.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    45. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2004 Feb 15; 13(4):417-28. Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. PMID: 14681306; PMCID: PMC2836129.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
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