Keywords
Last Name
Institution

Pamela Sklar

TitlePROFESSOR
InstitutionMount Sinai
DepartmentPsychiatry
Address
    Other Positions
    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentNeuroscience

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentGenetics and Genomic Sciences


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Lee SH, Yang J, Chen GB, Ripke S, Stahl EA, Hultman CM, Sklar P, Visscher PM, Sullivan PF, Goddard ME, Wray NR. Estimation of SNP heritability from dense genotype data. Am J Hum Genet. 2013 Dec 5; 93(6):1151-5.
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    2. Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K, Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N, de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P, Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB, Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E, Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato S, Verhage M, Walters JT. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet. 2013 Oct; 45(10):1150-9.
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    3. Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Mol Psychiatry. 2013 Nov; 18(11):1178-84.
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    4. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94.
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    5. Craddock N, Sklar P. Genetics of bipolar disorder. Lancet. 2013 May 11; 381(9878):1654-62.
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    6. Pato MT, Sobell JL, Medeiros H, Abbott C, Sklar BM, Buckley PF, Bromet EJ, Escamilla MA, Fanous AH, Lehrer DS, Macciardi F, Malaspina D, McCarroll SA, Marder SR, Moran J, Morley CP, Nicolini H, Perkins DO, Purcell SM, Rapaport MH, Sklar P, Smoller JW, Knowles JA. The genomic psychiatry cohort: partners in discovery. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun; 162B(4):306-12.
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    7. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P. Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genet. 2013 Apr; 9(4):e1003455.
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    8. Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G. Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry. 2013 Mar; 70(3):253-60.
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    9. Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, Pato C, St Clair D, Sullivan PF, Purcell SM, Sklar P, Ernst C. Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013 Sep; 21(9):1007-11.
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    10. Leussis MP, Berry-Scott EM, Saito M, Jhuang H, de Haan G, Alkan O, Luce CJ, Madison JM, Sklar P, Serre T, Root DE, Petryshen TL. The ANK3 bipolar disorder gene regulates psychiatric-related behaviors that are modulated by lithium and stress. Biol Psychiatry. 2013 Apr 1; 73(7):683-90.
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    11. Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 7; 91(6):1128-34.
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    12. Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46.
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    13. Kim Y, Ripke S, Kirov G, Sklar P, Purcell SM, Owen MJ, O'Donovan MC, Sullivan PF. Non-random mating, parent-of-origin, and maternal-fetal incompatibility effects in schizophrenia. Schizophr Res. 2013 Jan; 143(1):11-7.
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    14. Lee PH, Perlis RH, Jung JY, Byrne EM, Rueckert E, Siburian R, Haddad S, Mayerfeld CE, Heath AC, Pergadia ML, Madden PA, Boomsma DI, Penninx BW, Sklar P, Martin NG, Wray NR, Purcell SM, Smoller JW. Multi-locus genome-wide association analysis supports the role of glutamatergic synaptic transmission in the etiology of major depressive disorder. Transl Psychiatry. 2012; 2:e184.
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    15. Green EK, Hamshere M, Forty L, Gordon-Smith K, Fraser C, Russell E, Grozeva D, Kirov G, Holmans P, Moran JL, Purcell S, Sklar P, Owen MJ, O'Donovan MC, Jones L. Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. Mol Psychiatry. 2013 Dec; 18(12):1302-7.
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    16. Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet. 2012 Oct 5; 91(4):597-607.
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    17. Rueckert EH, Barker D, Ruderfer D, Bergen SE, O'Dushlaine C, Luce CJ, Sheridan SD, Theriault KM, Chambert K, Moran J, Purcell SM, Madison JM, Haggarty SJ, Sklar P. Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder. Mol Psychiatry. 2013 Aug; 18(8):922-9.
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    18. Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics. 2012 Oct 1; 28(19):2543-5.
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    19. Bergen SE, O'Dushlaine CT, Ripke S, Lee PH, Ruderfer DM, Akterin S, Moran JL, Chambert KD, Handsaker RE, Backlund L, Ösby U, McCarroll S, Landen M, Scolnick EM, Magnusson PK, Lichtenstein P, Hultman CM, Purcell SM, Sklar P, Sullivan PF. Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry. 2012 Sep; 17(9):880-6.
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    20. Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, Gupta N, Sklar P, Sullivan PF, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Lehner T, Shugart YY, Price AL, de Bakker PI, Purcell SM, Sunyaev SR. Exome sequencing and the genetic basis of complex traits. Nat Genet. 2012 Jun; 44(6):623-30.
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    21. Hamshere ML, Walters JT, Smith R, Richards AL, Green E, Grozeva D, Jones I, Forty L, Jones L, Gordon-Smith K, Riley B, O'Neill FA, O'Neill T, Kendler KS, Sklar P, Purcell S, Kranz J. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry. 2013 Jun; 18(6):708-12.
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    22. Pasaniuc B, Rohland N, McLaren PJ, Garimella K, Zaitlen N, Li H, Gupta N, Neale BM, Daly MJ, Sklar P, Sullivan PF, Bergen S, Moran JL, Hultman CM, Lichtenstein P, Magnusson P, Purcell SM, Haas DW, Liang L, Sunyaev S, Patterson N, de Bakker PI, Reich D, Price AL. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet. 2012 Jun; 44(6):631-5.
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    23. Green EK, Grozeva D, Forty L, Gordon-Smith K, Russell E, Farmer A, Hamshere M, Jones IR, Jones L, McGuffin P, Moran JL, Purcell S, Sklar P, Owen MJ, O'Donovan MC, Craddock N. Association at SYNE1 in both bipolar disorder and recurrent major depression. Mol Psychiatry. 2013 May; 18(5):614-7.
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    24. Lydall GJ, Bass NJ, McQuillin A, Lawrence J, Anjorin A, Kandaswamy R, Pereira A, Guerrini I, Curtis D, Vine AE, Sklar P, Purcell SM, Gurling HM. Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder. Psychiatr Genet. 2011 Dec; 21(6):294-306.
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    25. Singh KK, De Rienzo G, Drane L, Mao Y, Flood Z, Madison J, Ferreira M, Bergen S, King C, Sklar P, Sive H, Tsai LH. Common DISC1 polymorphisms disrupt Wnt/GSK3ß signaling and brain development. Neuron. 2011 Nov 17; 72(4):545-58.
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    26. Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry. 2012 Feb; 17(2):142-53.
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    27. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet. 2011 Oct; 43(10):977-83.
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    28. Collins AL, Kim Y, Sklar P. Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results. Psychol Med. 2012 Mar; 42(3):607-16.
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    29. Lee PH, Bergen SE, Perlis RH, Sullivan PF, Sklar P, Smoller JW, Purcell SM. Modifiers and subtype-specific analyses in whole-genome association studies: a likelihood framework. Hum Hered. 2011; 72(1):10-20.
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    30. Humphreys K, Grankvist A, Leu M, Hall P, Liu J, Ripatti S, Rehnström K, Groop L, Klareskog L, Ding B, Grönberg H, Xu J, Pedersen NL, Lichtenstein P, Mattingsdal M, Andreassen OA, O'Dushlaine C, Purcell SM, Sklar P, Sullivan PF, Hultman CM, Palmgren J, Magnusson PK. The genetic structure of the Swedish population. PLoS One. 2011; 6(8):e22547.
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    31. Buxbaum JD, Sklar P. Human induced pluripotent stem cells: a new model for schizophrenia? Cell Stem Cell. 2011 May 6; 8(5):461-2.
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    32. Ruderfer DM, Kirov G, Chambert K, Moran JL, Owen MJ, O'Donovan MC, Sklar P, Purcell SM. A family-based study of common polygenic variation and risk of schizophrenia. Mol Psychiatry. 2011 Sep; 16(9):887-8.
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    33. Hamshere ML, O'Donovan MC, Jones IR, Jones L, Kirov G, Green EK, Moskvina V, Grozeva D, Bass N, McQuillin A, Gurling H, St Clair D, Young AH, Ferrier IN, Farmer A, McGuffin P, Sklar P, Purcell S, Holmans PA, Owen MJ, Craddock N. Polygenic dissection of the bipolar phenotype. Br J Psychiatry. 2011 Apr; 198(4):284-8.
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    34. Pereira AC, McQuillin A, Puri V, Anjorin A, Bass N, Kandaswamy R, Lawrence J, Curtis D, Sklar P, Purcell SM, Gurling HM. Genetic association and sequencing of the insulin-like growth factor 1 gene in bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar; 156(2):177-87.
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    35. McQuillin A, Bass N, Anjorin A, Lawrence J, Kandaswamy R, Lydall G, Moran J, Sklar P, Purcell S, Gurling H. Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. Eur J Hum Genet. 2011 May; 19(5):588-92.
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    36. Perlis RH, Huang J, Purcell S, Fava M, Rush AJ, Sullivan PF, Hamilton SP, McMahon FJ, Schulze TG, Schulze T, Potash JB, Zandi PP, Willour VL, Penninx BW, Boomsma DI, Vogelzangs N, Middeldorp CM, Rietschel M, Nöthen M, Cichon S, Gurling H, Bass N, McQuillin A, Hamshere M. Genome-wide association study of suicide attempts in mood disorder patients. Am J Psychiatry. 2010 Dec; 167(12):1499-507.
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    37. Chen X, Lee G, Maher BS, Fanous AH, Chen J, Zhao Z, Guo A, van den Oord E, Sullivan PF, Shi J, Levinson DF, Gejman PV, Sanders A, Duan J, Owen MJ, Craddock NJ, O'Donovan MC, Blackman J, Lewis D, Kirov GK, Qin W, Schwab S, Wildenauer D, Chowdari K, Nimgaonkar V, Straub RE, Weinberger DR, O'Neill FA, Walsh D, Bronstein M, Darvasi A, Lencz T, Malhotra AK, Rujescu D, Giegling I, Werge T, Hansen T, Ingason A, Nöethen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Cantor RM, Ophoff R, Corvin A, Morris DW, Gill M, Pato CN, Pato MT, Macedo A, Gurling HM, McQuillin A, Pimm J, Hultman C, Lichtenstein P, Sklar P, Purcell SM, Scolnick E, St Clair D, Blackwood DH, Kendler KS. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Mol Psychiatry. 2011 Nov; 16(11):1117-29.
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    38. Raychaudhuri S, Korn JM, McCarroll SA. Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet. 2010 Sep; 6(9):e1001097.
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    39. Huang J, Perlis RH, Lee PH, Rush AJ, Fava M, Sachs GS, Lieberman J, Hamilton SP, Sullivan P, Sklar P, Purcell S, Smoller JW. Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. Am J Psychiatry. 2010 Oct; 167(10):1254-63.
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    40. Williams HJ, Norton N, Dwyer S, Moskvina V, Nikolov I, Carroll L, Georgieva L, Williams NM, Morris DW, Quinn EM, Giegling I, Ikeda M, Wood J, Lencz T, Hultman C, Lichtenstein P, Thiselton D, Maher BS. Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Mol Psychiatry. 2011 Apr; 16(4):429-41.
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    41. Liu Y, Blackwood DH, Caesar S, de Geus EJ, Farmer A, Ferreira MA, Ferrier IN, Fraser C, Gordon-Smith K, Green EK, Grozeva D, Gurling HM, Hamshere ML, Heutink P, Holmans PA, Hoogendijk WJ, Hottenga JJ, Jones L, Jones IR, Kirov G, Lin D, McGuffin P, Moskvina V, Nolen WA, Perlis RH, Posthuma D, Scolnick EM, Smit AB, Smit JH, Smoller JW, St Clair D, van Dyck R, Verhage M, Willemsen G, Young AH, Zandbelt T, Boomsma DI, Craddock N, O'Donovan MC, Owen MJ, Penninx BW, Purcell S, Sklar P, Sullivan PF. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Mol Psychiatry. 2011 Jan; 16(1):2-4.
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    42. Nyegaard M, Severinsen JE, Als TD, Hedemand A, Straarup S, Nordentoft M, McQuillin A, Bass N, Lawrence J, Thirumalai S, Pereira AC, Kandaswamy R, Lydall GJ, Sklar P, Scolnick E, Purcell S, Curtis D, Gurling HM, Mortensen PB, Mors O, Børglum AD. Support of association between BRD1 and both schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5; 153B(2):582-91.
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    43. Fan J, Ionita-Laza I, McQueen MB, Devlin B, Purcell S, Faraone SV, Allen MH, Bowden CL, Calabrese JR, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TB, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel JK, Sachs GS, Thase ME, Molay FB, Escamilla MA, Nimgaonkar VL, Sklar P, Laird NM, Smoller JW. Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5; 153B(1):29-37.
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    44. McGrath CL, Glatt SJ, Sklar P, Le-Niculescu H, Kuczenski R, Doyle AE, Biederman J, Mick E, Faraone SV, Niculescu AB, Tsuang MT. Evidence for genetic association of RORB with bipolar disorder. BMC Psychiatry. 2009; 9:70.
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    45. Mansour HA, Talkowski ME, Wood J, Chowdari KV, McClain L, Prasad K, Montrose D, Fagiolini A, Friedman ES, Allen MH, Bowden CL, Calabrese J, El-Mallakh RS, Escamilla M, Faraone SV, Fossey MD, Gyulai L, Loftis JM, Hauser P, Ketter TA, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Laird N, Keshavan M, Thase ME, Axelson D, Birmaher B, Lewis D, Monk T, Frank E, Kupfer DJ, Devlin B, Nimgaonkar VL. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord. 2009 Nov; 11(7):701-10.
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    46. Vine AE, McQuillin A, Bass NJ, Pereira A, Kandaswamy R, Robinson M, Lawrence J, Anjorin A, Sklar P, Gurling HM, Curtis D. No evidence for excess runs of homozygosity in bipolar disorder. Psychiatr Genet. 2009 Aug; 19(4):165-70.
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    47. Leussis MP, Frayne ML, Saito M, Berry EM, Aldinger KA, Rockwell GN, Hammer RP, Baskin-Hill AE, Singer JB, Nadeau JH, Sklar P, Petryshen TL. Genomic survey of prepulse inhibition in mouse chromosome substitution strains. Genes Brain Behav. 2009 Nov; 8(8):806-16.
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    48. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009 Aug 6; 460(7256):748-52.
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    49. Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC. Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 2009 Jun; 5(6):e1000534.
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    50. Holmans P, Green EK, Pahwa JS, Ferreira MA, Purcell SM, Sklar P. Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. Am J Hum Genet. 2009 Jul; 85(1):13-24.
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    51. Perlis RH, Smoller JW, Ferreira MA, McQuillin A, Bass N, Lawrence J, Sachs GS, Nimgaonkar V, Scolnick EM, Gurling H, Sklar P, Purcell S. A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder. Am J Psychiatry. 2009 Jun; 166(6):718-25.
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    52. Bruce HA, Sachs N, Rudnicki DD, Lin SG, Willour VL, Cowell JK, Conroy J, McQuaid DE, Rossi M, Gaile DP, Nowak NJ, Holmes SE, Sklar P, Ross CA, Delisi LE, Margolis RL. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatr Genet. 2009 Apr; 19(2):64-71.
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    53. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry. 2009 May; 166(5):540-56.
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    54. Petryshen TL, Sabeti PC, Aldinger KA, Fry B, Fan JB, Schaffner SF, Waggoner SG, Tahl AR, Sklar P. Population genetic study of the brain-derived neurotrophic factor (BDNF) gene. Mol Psychiatry. 2010 Aug; 15(8):810-5.
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    55. Craddock N, Sklar P. Genetics of bipolar disorder: successful start to a long journey. Trends Genet. 2009 Feb; 25(2):99-105.
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    56. Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T, Riley B, Paunio T, Pulver AE. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry. 2009 Aug; 14(8):774-85.
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    57. Doyle AE, Ferreira MA, Sklar PB, Lasky-Su J, Petty C, Fusillo SJ, Seidman LJ, Willcutt EG, Smoller JW, Purcell S, Biederman J, Faraone SV. Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13. Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5; 147B(8):1399-411.
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    58. Faraone SV, Doyle AE, Lasky-Su J, Sklar PB, D'Angelo E, Gonzalez-Heydrich J, Kratochvil C, Mick E, Klein K, Rezac AJ, Biederman J. Linkage analysis of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5; 147B(8):1387-91.
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    59. Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, MacIntyre DJ, MacLean AW, St CD, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Ferrier IN, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008 Sep; 40(9):1056-8.
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    60. Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, de Bakker PI, Ogdie MN, Thase ME, Sachs GS, Todd-Brown K, Gabriel SB, Sougnez C, Gates C, Blumenstiel B, Defelice M, Ardlie KG, Franklin J, Muir WJ, McGhee KA, MacIntyre DJ, McLean A, VanBeck M, McQuillin A, Bass NJ, Robinson M, Lawrence J, Anjorin A, Curtis D, Scolnick EM, Daly MJ, Blackwood DH, Gurling HM, Purcell SM. Whole-genome association study of bipolar disorder. Mol Psychiatry. 2008 Jun; 13(6):558-69.
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    61. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
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    62. Perlis RH, Purcell S, Fagerness J, Kirby A, Petryshen TL, Fan J, Sklar P. Family-based association study of lithium-related and other candidate genes in bipolar disorder. Arch Gen Psychiatry. 2008 Jan; 65(1):53-61.
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    63. Fan J, Sklar P. Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism. Novartis Found Symp. 2008; 289:60-72; discussion 72-3, 87-93.
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    64. Kim JW, Biederman J, McGrath CL, Doyle AE, Mick E, Fagerness J, Purcell S, Smoller JW, Sklar P, Faraone SV. Further evidence of association between two NET single-nucleotide polymorphisms with ADHD. Mol Psychiatry. 2008 Jun; 13(6):624-30.
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    65. Kim JW, Waldman ID, Faraone SV, Biederman J, Doyle AE, Purcell S, Arbeitman L, Fagerness J, Sklar P, Smoller JW. Investigation of parent-of-origin effects in ADHD candidate genes. Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5; 144B(6):776-80.
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    66. Kim JW, Biederman J, Arbeitman L, Fagerness J, Doyle AE, Petty C, Perlis RH, Purcell S, Smoller JW, Faraone SV, Sklar P. Investigation of variation in SNAP-25 and ADHD and relationship to co-morbid major depressive disorder. Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5; 144B(6):781-90.
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    67. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007 Sep; 81(3):559-75.
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    68. Weiss LA, Purcell S, Waggoner S, Lawrence K, Spektor D, Daly MJ, Sklar P, Skuse D. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Hum Mol Genet. 2007 Jan 1; 16(1):107-13.
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    69. Mick E, Biederman J, Spencer T, Faraone SV, Sklar P. Absence of association with DAT1 polymorphism and response to methylphenidate in a sample of adults with ADHD. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5; 141B(8):890-4.
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    70. Mutsuddi M, Morris DW, Waggoner SG, Daly MJ, Scolnick EM, Sklar P. Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. Am J Hum Genet. 2006 Nov; 79(5):903-9.
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    71. Lichtenstein P, Björk C, Hultman CM, Scolnick E, Sklar P, Sullivan PF. Recurrence risks for schizophrenia in a Swedish national cohort. Psychol Med. 2006 Oct; 36(10):1417-25.
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    72. Schwab SG, Knapp M, Sklar P, Eckstein GN, Sewekow C, Borrmann-Hassenbach M, Albus M, Becker T, Hallmayer JF, Lerer B, Maier W, Wildenauer DB. Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia. Mol Psychiatry. 2006 Sep; 11(9):837-46.
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    73. Scolnick EM, Petryshen T, Sklar P. Schizophrenia: do the genetics and neurobiology of neuregulin provide a pathogenesis model? Harv Rev Psychiatry. 2006 Mar-Apr; 14(2):64-77.
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    74. Petryshen TL, Middleton FA, Tahl AR, Rockwell GN, Purcell S, Aldinger KA, Kirby A, Morley CP, McGann L, Gentile KL, Waggoner SG, Medeiros HM, Carvalho C, Macedo A, Albus M, Maier W, Trixler M, Eichhammer P, Schwab SG, Wildenauer DB, Azevedo MH, Pato MT, Pato CN, Daly MJ, Sklar P. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005 Dec; 10(12):1074-88, 1057.
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    75. Fan JB, Sklar P. Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophrenia. Mol Psychiatry. 2005 Oct; 10(10):928-38, 891.
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    76. Smoller JW, Biederman J, Arbeitman L, Doyle AE, Fagerness J, Perlis RH, Sklar P, Faraone SV. Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. Biol Psychiatry. 2006 Mar 1; 59(5):460-7.
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    77. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly MJ, Depaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo SH, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, Mackinnon JD, McInnis MG, McMahon FJ, Murphy DL, Nothen MM, Nurnberger JI, Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Rietschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi PP, Laird NM. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet. 2005 Oct; 77(4):582-95.
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    78. Petryshen TL, Kirby A, Hammer RP, Purcell S, O'Leary SB, Singer JB, Hill AE, Nadeau JH, Daly MJ, Sklar P. Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains. Genetics. 2005 Dec; 171(4):1895-904.
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    79. Finn CT, Wilcox MA, Korf BR, Blacker D, Racette SR, Sklar P, Smoller JW. Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. J Clin Psychiatry. 2005 Jul; 66(7):821-30.
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    80. Smoller JW, Yamaki LH, Fagerness JA, Biederman J, Racette S, Laird NM, Kagan J, Snidman N, Faraone SV, Hirshfeld-Becker D, Tsuang MT, Slaugenhaupt SA, Rosenbaum JF, Sklar PB. The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry. 2005 Jun 15; 57(12):1485-92.
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    81. Sklar P. Principles of haplotype mapping and potential applications to attention-deficit/hyperactivity disorder. Biol Psychiatry. 2005 Jun 1; 57(11):1357-66.
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    82. Petryshen TL, Middleton FA, Kirby A, Aldinger KA, Purcell S, Tahl AR, Morley CP, McGann L, Gentile KL, Rockwell GN, Medeiros HM, Carvalho C, Macedo A, Dourado A, Valente J, Ferreira CP, Patterson NJ, Azevedo MH, Daly MJ, Pato CN, Pato MT, Sklar P. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Mol Psychiatry. 2005 Apr; 10(4):366-74, 328.
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    83. Faraone SV, Perlis RH, Doyle AE, Smoller JW, Goralnick JJ, Holmgren MA, Sklar P. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry. 2005 Jun 1; 57(11):1313-23.
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    84. Mansour HA, Talkowski ME, Wood J, Pless L, Bamne M, Chowdari KV, Allen M, Bowden CL, Calabrese J, El-Mallakh RS, Fagiolini A, Faraone SV, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TA, Loftis JM, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Thase ME, Frank E, Kupfer DJ, Nimgaonkar VL. Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter. Ann Med. 2005; 37(8):590-602.
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    85. Pato CN, Pato MT, Kirby A, Petryshen TL, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Verner A, Hudson TJ, Morley CP, Kennedy JL, Azevedo MH, Daly MJ, Sklar P. Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. Am J Med Genet B Neuropsychiatr Genet. 2004 May 15; 127B(1):30-4.
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    86. Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, Eisener AF, Brown A, Petryshen TL, Kirby AN, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Azevedo MH, Kennedy JL, Daly MJ, Sklar P, Pato CN. Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am J Hum Genet. 2004 May; 74(5):886-97.
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    87. Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D. Assessing the impact of population stratification on genetic association studies. Nat Genet. 2004 Apr; 36(4):388-93.
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    88. Sklar P, Pato MT, Kirby A, Petryshen TL, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Verner A, Hudson TJ, Morley CP, Kennedy JL, Azevedo MH, Lander E, Daly MJ, Pato CN. Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. Mol Psychiatry. 2004 Feb; 9(2):213-8.
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    89. Smoller JW, Rosenbaum JF, Biederman J, Kennedy J, Dai D, Racette SR, Laird NM, Kagan J, Snidman N, Hirshfeld-Becker D, Tsuang MT, Sklar PB, Slaugenhaupt SA. Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry. 2003 Dec 15; 54(12):1376-81.
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    90. Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR, Ross CA, McInnis MG. Trapping and sequence analysis of 1138 putative exons from human chromosome 18. Mol Psychiatry. 2003 Jun; 8(6):619-23.
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    91. Sklar P. Linkage analysis in psychiatric disorders: the emerging picture. Annu Rev Genomics Hum Genet. 2002; 3:371-413.
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    92. Sklar P, Gabriel SB, McInnis MG, Bennett P, Lim Y-, Tsan G, Schaffner S, Kirov G, Jones I, Owen M, Craddock N, DePaulo JR, Lander ES. Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor. Mol Psychiatry. 2002; 7(6):579-93.
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    93. Sklar P. The genomic approach to candidate genes. Harv Rev Psychiatry. 2001 Jul-Aug; 9(4):197-207.
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    94. Sklar P, Schwab SG, Williams NM, Daly M, Schaffner S, Maier W, Albus M, Trixler M, Eichhammer P, Lerer B, Hallmayer J, Norton N, Williams H, Zammit S, Cardno AG, Jones S, McCarthy G, Milanova V, Kirov G, O'Donovan MC, Lander ES, Owen MJ, Wildenauer DB. Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls. Nat Genet. 2001 Jun; 28(2):126-8.
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    95. Lindblad-Toh K, Winchester E, Daly MJ, Wang DG, Hirschhorn JN, Laviolette JP, Ardlie K, Reich DE, Robinson E, Sklar P, Shah N, Thomas D, Fan JB, Gingeras T, Warrington J, Patil N, Hudson TJ, Lander ES. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet. 2000 Apr; 24(4):381-6.
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    96. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul; 22(3):231-8.
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