Loading...

Vilain Eric

Title(s)Professor, Pediatrics
Phone(310) 206-6581
vCardDownload vCard
    Other Positions
    Title(s)Professor, Human Genetics

    Title(s)Professor, Urology

    Title(s)Director, Center for Gender-Based Biology

    Title(s)Chair, Medical Genetics Clinic


    Collapse Research 
    Collapse Research Activities and Funding
    Disorders/Differences of Sex Development (DSD) - Translational Research Network
    NIH/NICHD R01HD093450Jul 15, 2018 - Mar 31, 2023
    Role: Co-Principal Investigator
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH/NHGRI U01HG007703Jul 1, 2014 - Jun 30, 2022
    Role: Co-Principal Investigator
    Genetic Mechanisms in Klinefelter Syndrome-Related Behaviors
    NIH/NICHD R01HD076125Jun 1, 2014 - May 31, 2019
    Role: Co-Principal Investigator
    Disorders of Sex Development: Platform for Basic and Translational Research
    NIH/NICHD R01HD068138Sep 26, 2011 - Jun 30, 2016
    Role: Principal Investigator
    Role of the Male-Specific Factor Sry in Brain Function
    NIH/NIMH R01MH075046Aug 31, 2007 - Jul 31, 2013
    Role: Principal Investigator
    Gene Dosage in Mammalian Sexual Development
    NIH/NICHD R01HD044513Jul 15, 2003 - Mar 31, 2014
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH/NIGMS T32GM008243Jul 1, 1987 - Jun 30, 2020
    Role: Co-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.
    List All   |   Timeline
    1. Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 Jan 02; 106(1):121-128. PMID: 31883643.
      View in: PubMed
    2. da Silva TE, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AAL, Elias FM, Mitchell R, Costa EMF, Mendonca BB, Domenice S. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. J Clin Endocrinol Metab. 2019 Dec 01; 104(12):5923-5934. PMID: 31287541.
      View in: PubMed
    3. Foreman M, Vilain E, Harley V. Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signaling". J Clin Endocrinol Metab. 2019 Oct 01; 104(10):4420. PMID: 30942840.
      View in: PubMed
    4. Sandberg DE, Gardner M, Kopec K, Urbanski M, Callens N, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Timmermans S, Siminoff LA. Development of a decision support tool in pediatric Differences/Disorders of Sex Development. Semin Pediatr Surg. 2019 Oct; 28(5):150838. PMID: 31668291.
      View in: PubMed
    5. Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley VR. Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson's disease. Proc Natl Acad Sci U S A. 2019 Aug 13; 116(33):16577-16582. PMID: 31371505.
      View in: PubMed
    6. Byers ES, Mustanski B, Semenyna S, Suschinsky KD, Vilain E. The Role of Sex Research Organizations in Eliminating Sexual Harassment. Arch Sex Behav. 2019 Jul 01. PMID: 31263992.
      View in: PubMed
    7. Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics. Sociol Health Illn. 2019 11; 41(8):1520-1534. PMID: 31225650.
      View in: PubMed
    8. Bramble MS, Vashist N, Vilain E. Sex steroid hormone modulation of neural stem cells: a critical review. Biol Sex Differ. 2019 05 30; 10(1):28. PMID: 31146782.
      View in: PubMed
    9. 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.
      View in: PubMed
    10. Vilain E, Martinez-Patiño MJ. Science's place in shaping gender-based policies in athletics. Lancet. 2019 Apr 13; 393(10180):1504. PMID: 30952464.
      View in: PubMed
    11. Parivesh A, Barseghyan H, Délot E, Vilain E. Translating genomics to the clinical diagnosis of disorders/differences of sex development. Curr Top Dev Biol. 2019; 134:317-375. PMID: 30999980.
      View in: PubMed
    12. Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y. Long-read single-molecule maps of the functional methylome. Genome Res. 2019 04; 29(4):646-656. PMID: 30846530.
      View in: PubMed
    13. Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE. Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool. Horm Res Paediatr. 2018; 90(6):368-380. PMID: 30783028.
      View in: PubMed
    14. Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR. Genetic Link Between Gender Dysphoria and Sex Hormone Signaling. J Clin Endocrinol Metab. 2019 02 01; 104(2):390-396. PMID: 30247609.
      View in: PubMed
    15. Mullegama SV, Klein SD, Signer RH, Vilain E, Martinez-Agosto JA. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med. 2019 02; 7(2):e00501. PMID: 30447054.
      View in: PubMed
    16. Bramble MS, Hoff N, Gilchuk P, Mukadi P, Lu K, Doshi RH, Steffen I, Nicholson BP, Lipson A, Vashist N, Sinai C, Spencer D, Olinger G, Wemakoy EO, Illunga BK, Pettitt J, Logue J, Marchand J, Varughese J, Bennett RS, Jahrling P, Cavet G, Serafini T, Ollmann Saphire E, Vilain E, Muyembe-Tamfum JJ, Hensely LE, Simmons G, Crowe JE, Rimoin AW. Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors. J Infect Dis. 2018 11 05; 218(12):1929-1936. PMID: 30107445.
      View in: PubMed
    17. Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics. J Health Soc Behav. 2018 12; 59(4):520-535. PMID: 30303019.
      View in: PubMed
    18. Barseghyan H, Délot EC, Vilain E. New technologies to uncover the molecular basis of disorders of sex development. Mol Cell Endocrinol. 2018 06 15; 468:60-69. PMID: 29655603.
      View in: PubMed
    19. Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biol Sex Differ. 2018 01 30; 9(1):8. PMID: 29378665.
      View in: PubMed
    20. 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.
      View in: PubMed
    21. Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). PMID: 28933790.
      View in: PubMed
    22. Adam MP, Vilain E. Emerging issues in disorders/differences of sex development (DSD). Am J Med Genet C Semin Med Genet. 2017 06; 175(2):249-252. PMID: 28577349.
      View in: PubMed
    23. Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE. Disorders of sex development (DSD): Clinical service delivery in the United States. Am J Med Genet C Semin Med Genet. 2017 06; 175(2):268-278. PMID: 28557237.
      View in: PubMed
    24. Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. Am J Med Genet C Semin Med Genet. 2017 06; 175(2):253-259. PMID: 28504475.
      View in: PubMed
    25. Délot EC, Papp JC, Sandberg DE, Vilain E. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinol Metab Clin North Am. 2017 06; 46(2):519-537. PMID: 28476235.
      View in: PubMed
    26. Bramble MS, Lipson A, Vashist N, Vilain E. Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development. J Neurosci Res. 2017 01 02; 95(1-2):65-74. PMID: 27841933.
      View in: PubMed
    27. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 12 01; 25(23):5286. PMID: 28031288.
      View in: PubMed
    28. Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells. Sci Rep. 2016 11 15; 6:36916. PMID: 27845378.
      View in: PubMed
    29. Bailey JM, Vasey PL, Diamond LM, Breedlove SM, Vilain E, Epprecht M. Sexual Orientation, Controversy, and Science. Psychol Sci Public Interest. 2016 Sep; 17(2):45-101. PMID: 27113562.
      View in: PubMed
    30. Martínez-Patiño MJ, Vilain E, Bueno-Guerra N. The unfinished race: 30 years of gender verification in sport. Lancet. 2016 Aug 06; 388(10044):541-3. PMID: 27511770.
      View in: PubMed
    31. Nelson MD, Szczepaniak LS, Wei J, Szczepaniak E, Sánchez FJ, Vilain E, Stern JH, Bergman RN, Bairey Merz CN, Clegg DJ. Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective? Transgend Health. 2016; 1(1):165-171. PMID: 29159307.
      View in: PubMed
    32. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 08 15; 25(16):3446-3453. PMID: 27378692.
      View in: PubMed
    33. Vouyovitch CM, Perry JK, Liu DX, Bezin L, Vilain E, Diaz JJ, Lobie PE, Mertani HC. WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells. Endocr Relat Cancer. 2016 07; 23(7):571-85. PMID: 27323961.
      View in: PubMed
    34. Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. PMID: 26931382.
      View in: PubMed
    35. Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Hum Reprod. 2016 Apr; 31(4):905-14. PMID: 26911863.
      View in: PubMed
    36. Arnold AP, Reue K, Eghbali M, Vilain E, Chen X, Ghahramani N, Itoh Y, Li J, Link JC, Ngun T, Williams-Burris SM. The importance of having two X chromosomes. Philos Trans R Soc Lond B Biol Sci. 2016 Feb 19; 371(1688):20150113. PMID: 26833834.
      View in: PubMed
    37. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016; 85(3):158-80. PMID: 26820577.
      View in: PubMed
    38. Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Eur J Med Genet. 2016 Feb; 59(2):70-4. PMID: 26721324.
      View in: PubMed
    39. Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes Cancer. 2016 Feb; 55(2):131-42. PMID: 26542077.
      View in: PubMed
    40. 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.
      View in: PubMed
    41. Rolston AM, Gardner M, Vilain E, Sandberg DE. Parental Reports of Stigma Associated with Child's Disorder of Sex Development. Int J Endocrinol. 2015; 2015:980121. PMID: 25918529.
      View in: PubMed
    42. Borges KS, Arboleda VA, Vilain E. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015; 10:2. PMID: 25861374.
      View in: PubMed
    43. Rickabaugh TM, Baxter RM, Sehl M, Sinsheimer JS, Hultin PM, Hultin LE, Quach A, Martínez-Maza O, Horvath S, Vilain E, Jamieson BD. Acceleration of age-associated methylation patterns in HIV-1-infected adults. PLoS One. 2015; 10(3):e0119201. PMID: 25807146.
      View in: PubMed
    44. 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.
      View in: PubMed
    45. Bermon S, Vilain E, Fénichel P, Ritzén M. Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. J Clin Endocrinol Metab. 2015 Mar; 100(3):828-30. PMID: 25587809.
      View in: PubMed
    46. 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.
      View in: PubMed
    47. 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.
      View in: PubMed
    48. 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.
      View in: PubMed
    49. Alt M, Lewis AM, Liu WM, Vilain E, Sánchez FJ. On the validity of popular masculinity rating scales with gay men. Arch Sex Behav. 2014 Nov; 43(8):1547-57. PMID: 25193131.
      View in: PubMed
    50. Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. PMID: 25091731.
      View in: PubMed
    51. Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E. Hurdling over sex? Sport, science, and equity. Arch Sex Behav. 2014 Aug; 43(6):1035-42. PMID: 25085349.
      View in: PubMed
    52. Ritzén M, Ljungqvist A, Budgett R, Garnier PY, Bermon S, Lindén-Hirschberg A, Vilain E, Martínez-Patiño MJ. The regulations about eligibility for women with hyperandrogenism to compete in women's category are well founded. A rebuttal to the conclusions by Healy et al. Clin Endocrinol (Oxf). 2015 Feb; 82(2):307-8. PMID: 24954211.
      View in: PubMed
    53. Grody WW, Vilain E, Nelson SF. Interpreting whole-genome sequencing. JAMA. 2014 Jul 16; 312(3):296. PMID: 25027151.
      View in: PubMed
    54. Ngun TC, Ghahramani NM, Creek MM, Williams-Burris SM, Barseghyan H, Itoh Y, Sánchez FJ, McClusky R, Sinsheimer JS, Arnold AP, Vilain E. Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome. Arch Sex Behav. 2014 Aug; 43(6):1043-57. PMID: 24923877.
      View in: PubMed
    55. Ghahramani NM, Ngun TC, Chen PY, Tian Y, Krishnan S, Muir S, Rubbi L, Arnold AP, de Vries GJ, Forger NG, Pellegrini M, Vilain E. The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging. Biol Sex Differ. 2014; 5:8. PMID: 24976947.
      View in: PubMed
    56. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 2014 Jul; 197(3):885-97. PMID: 24793290.
      View in: PubMed
    57. 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.
      View in: PubMed
    58. Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 06; 370(10):943-949. PMID: 24597867.
      View in: PubMed
    59. Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sex Dev. 2014; 8(5):262-72. PMID: 24504012.
      View in: PubMed
    60. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet A. 2014 Apr; 164A(4):958-65. PMID: 24459036.
      View in: PubMed
    61. 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.
      View in: PubMed
    62. Ngun TC, Vilain E. The biological basis of human sexual orientation: is there a role for epigenetics? Adv Genet. 2014; 86:167-84. PMID: 25172350.
      View in: PubMed
    63. Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP. The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance. Biol Sex Differ. 2013 Aug 08; 4(1):15. PMID: 23926958.
      View in: PubMed
    64. Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013; 14:371-92. PMID: 23875799.
      View in: PubMed
    65. Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Elements of morphology: standard terminology for the external genitalia. Am J Med Genet A. 2013 Jun; 161A(6):1238-63. PMID: 23650202.
      View in: PubMed
    66. Sánchez FJ, Martínez-Patiño MJ, Vilain E. The new policy on hyperandrogenism in elite female athletes is not about "sex testing". J Sex Res. 2013; 50(2):112-5. PMID: 23320653.
      View in: PubMed
    67. Fleming A, Ghahramani N, Zhu MX, Délot EC, Vilain E. Membrane ß-catenin and adherens junctions in early gonadal patterning. Dev Dyn. 2012 Nov; 241(11):1782-98. PMID: 22972715.
      View in: PubMed
    68. Sánchez FJ, Bocklandt S, Vilain E. The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Health Psychol. 2013 Jan; 32(1):52-6. PMID: 23025300.
      View in: PubMed
    69. Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. Increased Cortical Thickness in Male-to-Female Transsexualism. J Behav Brain Sci. 2012 Aug; 2(3):357-362. PMID: 23724358.
      View in: PubMed
    70. Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR. The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism. J Neurochem. 2012 Jul; 122(2):260-71. PMID: 22568433.
      View in: PubMed
    71. 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.
      View in: PubMed
    72. Sánchez FJ, Vilain E. "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Arch Sex Behav. 2012 Feb; 41(1):111-9. PMID: 22323055.
      View in: PubMed
    73. Vilain E, Sánchez FJ. Reproductive endocrinology: athletes' bodies, sexed bodies--intersexuality in athletics. Nat Rev Endocrinol. 2011 Nov 29; 8(4):198-9. PMID: 22124443.
      View in: PubMed
    74. Sánchez FJ, Liu WM, Leathers L, Goins J, Vilain E. The Subjective Experience of Social Class and Upward Mobility Among African American Men in Graduate School. Psychol Men Masc. 2011 Oct 01; 12(4):368-382. PMID: 22058659.
      View in: PubMed
    75. Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Mol Genet Metab. 2011 Sep-Oct; 104(1-2):67-71. PMID: 21795084.
      View in: PubMed
    76. Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. Epigenetic predictor of age. PLoS One. 2011; 6(6):e14821. PMID: 21731603.
      View in: PubMed
    77. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793. PMID: 21408189.
      View in: PubMed
    78. Vilain E. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011; 707:105-6. PMID: 21691964.
      View in: PubMed
    79. Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan; 121(1):328-41. PMID: 21183788.
      View in: PubMed
    80. Ngun TC, Ghahramani N, Sánchez FJ, Bocklandt S, Vilain E. The genetics of sex differences in brain and behavior. Front Neuroendocrinol. 2011 Apr; 32(2):227-46. PMID: 20951723.
      View in: PubMed
    81. Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May; 37(2):195-205. PMID: 20569798.
      View in: PubMed
    82. Sánchez FJ, Westefeld JS, Liu WM, Vilain E. Masculine Gender Role Conflict and Negative Feelings about Being Gay. Prof Psychol Res Pr. 2010 Apr 01; 41(2):104-111. PMID: 20428323.
      View in: PubMed
    83. Sánchez FJ, Vilain E. Genes and brain sex differences. Prog Brain Res. 2010; 186:65-76. PMID: 21094886.
      View in: PubMed
    84. Ching S, Vilain E. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis. 2009 Sep; 47(9):628-37. PMID: 19536807.
      View in: PubMed
    85. Sanchez FJ, Bocklandt S, Vilain E. Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychol Men Masc. 2009 Jul 01; 10(3):237-243. PMID: 20721305.
      View in: PubMed
    86. Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. Regional gray matter variation in male-to-female transsexualism. Neuroimage. 2009 Jul 15; 46(4):904-7. PMID: 19341803.
      View in: PubMed
    87. Sánchez FJ, Greenberg ST, Liu WM, Vilain E. Reported Effects of Masculine Ideals on Gay Men. Psychol Men Masc. 2009 Jan; 10(1):73-87. PMID: 20628534.
      View in: PubMed
    88. Sánchez FJ, Vilain E. Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals. J Couns Psychol. 2009 Jan 01; 56(1):202-209. PMID: 20046949.
      View in: PubMed
    89. Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr; 154(4):551-6. PMID: 19058814.
      View in: PubMed
    90. Hare L, Bernard P, Sánchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry. 2009 Jan 01; 65(1):93-6. PMID: 18962445.
      View in: PubMed
    91. Bernard P, Sim H, Knower K, Vilain E, Harley V. Human SRY inhibits beta-catenin-mediated transcription. Int J Biochem Cell Biol. 2008; 40(12):2889-900. PMID: 18598779.
      View in: PubMed
    92. Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Schupf N, Vilain E, Morris M, Haghighi F, Tycko B. Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation. Nat Genet. 2008 Jul; 40(7):904-8. PMID: 18568024.
      View in: PubMed
    93. Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 2008 May; 179(1):419-27. PMID: 18458101.
      View in: PubMed
    94. Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E. Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biol Cell. 2008 Mar; 100(3):167-77. PMID: 17976036.
      View in: PubMed
    95. Roselli CE, Bocklandt S, Stadelman HL, Wadsworth T, Vilain E, Stormshak F. Prolactin expression in the sheep brain. Neuroendocrinology. 2008; 87(4):206-15. PMID: 18223310.
      View in: PubMed
    96. Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E. Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. J Endocrinol. 2007 Jul; 194(1):153-60. PMID: 17592029.
      View in: PubMed
    97. Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF. Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Urol Oncol. 2007 Mar-Apr; 25(2):141-6. PMID: 17349529.
      View in: PubMed
    98. Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. We used to call them hermaphrodites. Genet Med. 2007 Feb; 9(2):65-6. PMID: 17304046.
      View in: PubMed
    99. Bocklandt S, Vilain E. Sex differences in brain and behavior: hormones versus genes. Adv Genet. 2007; 59:245-66. PMID: 17888801.
      View in: PubMed
    100. Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Hum Genet. 2007 Feb; 120(6):847-56. PMID: 17021862.
      View in: PubMed
    101. Lacombe A, Lelièvre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. [A neuropeptide at the origin of testicular aging?]. Med Sci (Paris). 2006 Oct; 22(10):809-11. PMID: 17026927.
      View in: PubMed
    102. 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.
      View in: PubMed
    103. Nikolova G, Vilain E. Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development. Nat Clin Pract Endocrinol Metab. 2006 Apr; 2(4):231-8. PMID: 16932288.
      View in: PubMed
    104. Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Mol Genet Metab. 2006 May; 88(1):66-70. PMID: 16504561.
      View in: PubMed
    105. Lacombe A, Lelievre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice. Proc Natl Acad Sci U S A. 2006 Mar 07; 103(10):3793-8. PMID: 16505386.
      View in: PubMed
    106. Dewing P, Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E. Direct regulation of adult brain function by the male-specific factor SRY. Curr Biol. 2006 Feb 21; 16(4):415-20. PMID: 16488877.
      View in: PubMed
    107. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Genet Metab. 2006 Jul; 88(3):272-9. PMID: 16459121.
      View in: PubMed
    108. Bocklandt S, Horvath S, Vilain E, Hamer DH. Extreme skewing of X chromosome inactivation in mothers of homosexual men. Hum Genet. 2006 Feb; 118(6):691-4. PMID: 16369763.
      View in: PubMed
    109. Jack GS, Nikolova G, Vilain E, Raz S, Rodríguez LV. Familial transmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2006 Sep; 17(5):498-501. PMID: 16365693.
      View in: PubMed
    110. Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8. PMID: 14994240.
      View in: PubMed
    111. Vilain E. Dead chromosome walking. Pediatr Res. 2004 Apr; 55(4):539-40. PMID: 14999104.
      View in: PubMed
    112. Dewing P, Shi T, Horvath S, Vilain E. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Res Mol Brain Res. 2003 Oct 21; 118(1-2):82-90. PMID: 14559357.
      View in: PubMed
    113. Jordan BK, Shen JH, Olaso R, Ingraham HA, Vilain E. Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy. Proc Natl Acad Sci U S A. 2003 Sep 16; 100(19):10866-71. PMID: 12949260.
      View in: PubMed
    114. Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Hum Mol Genet. 2003 Jul 15; 12(14):1755-65. PMID: 12837698.
      View in: PubMed
    115. Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab. 2002 Nov; 77(3):195-201. PMID: 12409266.
      View in: PubMed
    116. Dewing P, Bernard P, Vilain E. Disorders of gonadal development. Semin Reprod Med. 2002 Aug; 20(3):189-98. PMID: 12428199.
      View in: PubMed
    117. Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. J Clin Endocrinol Metab. 2002 Jul; 87(7):3428-32. PMID: 12107262.
      View in: PubMed
    118. Vilain E. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Found Symp. 2002; 244:43-53; discussion 53-6, 79-85, 253-7. PMID: 11990797.
      View in: PubMed
    119. Jordan BK, Vilain E. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002; 511:1-13; discussion 13-4. PMID: 12575752.
      View in: PubMed
    120. Vilain E. Genetics of sexual development. Annu Rev Sex Res. 2000; 11:1-25. PMID: 11351829.
      View in: PubMed
    121. Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab. 1999 Dec; 84(12):4335-40. PMID: 10599684.
      View in: PubMed