Notable Publications

  • Bramble, M. S., Lipson, A., Vashist, N. and Vilain, E. (2017), Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development. Journal of Neuroscience Research, 95: 65–74. doi:10.1002/jnr.23832
  • A Novel Follicle Stimulating Hormone Receptor Mutation Causing Primary Ovarian Failure: A Fertility Application of Whole Exome Sequencing. Matthew S. Bramble, Ellen H. Goldstein, Allen Lipson,,Tuck Ngun, Ascia Eskin, Jason E. Gosschalk, Lara Roach, Neerja Vashist, Hayk Barseghyan, Eric Lee, Valerie A. Arboleda, Daniel Vaiman, Zafer Yuksel, Marc Fellous,and Eric Vilain.  Human Reproduction. 2016 Jan 28.
  • The biological basis of human sexual orientation: is there a role for epigenetics? Ngun TC, Vilain E. Adv Genet. 2014;86:167-84. doi: 10.1016/B978-0-12-800222-3.00008-5. PMID: 25172350
  • The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging. 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. *Equal contribution. Biology of Sex Differences. 2014 Jun 13. 5:8. doi:10.1186/2042-6410-5-8.
  • Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome. Ngun TC*, Ghahramani NM*, Creek MM, Williams-Burris SM, Barseghyan H, Itoh Y, Sánchez FJ, McClusky R, Sinsheimer JS, Arnold AP, Vilain E. *Equal contribution. Arch Sex Behav. 2014 Jun 13. [Epub ahead of print] PMID: 2492387
  • Regulation of Sex Determination in Mice by a Non-Coding Genomic Region. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Genetics. 2014 May 2. pii: genetics.113.160259. [Epub ahead of print] PMID: 24793290
  • Mutant cohesin in premature ovarian failure. 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. N Engl J Med. 2014 Mar 6;370(10):943-9. doi: 10.1056/NEJMoa1309635. PMID: 24597867
  • The Genetics of Disorders of Sex Development in Humans. Ohnesorg T, Vilain E, Sinclair AH. Sex Dev. 2014 Jan 31. [Epub ahead of print] PMID: 24504012
  • 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. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23. PMID: 24459036
  • Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Genet Med. 2014 Jan 9. doi: 10.1038/gim.2013.183. [Epub ahead of print] PMID: 24406459 
  • The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance. Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP. Biol Sex Differ. 2013 Aug 8;4(1):15. doi: 10.1186/2042-6410-4-15. PMID: 23926958
  • Translational genetics for diagnosis of human disorders of sex development. Baxter RM, Vilain E. Annu Rev Genomics Hum Genet. 2013;14:371-92. doi: 10.1146/annurev-genom-091212-153417. Epub 2013 Jul 15. Review. PMID: 23875799
  • Increased Cortical Thickness in Male-to-Female Transsexualism. Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. J Behav Brain Sci. 2012 Aug;2(3):357-362. PMID: 23724358
  • Elements of morphology: standard terminology for the external genitalia. Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Am J Med Genet A. 2013 Jun;161A(6):1238-63. doi: 10.1002/ajmg.a.35934. Epub 2013 May 6. PMID: 23650202
  • The new policy on hyperandrogenism in elite female athletes is not about "sex testing". Sánchez FJ, Martínez-Patiño MJ, Vilain E. J Sex Res. 2013;50(2):112-5. doi: 10.1080/00224499.2012.752429. Epub 2013 Jan 15. PMID: 23320653
  • The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Sánchez FJ, Bocklandt S, Vilain E. Health Psychol. 2013 Jan;32(1):52-6. doi: 10.1037/a0029529. Epub 2012 Oct 1. PMID: 23025300
  • Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. 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. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. PMID: 22634751
  • The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism. Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR. J Neurochem. 2012 Jul;122(2):260-71. doi: 10.1111/j.1471-4159.2012.07782.x. Epub 2012 Jun 8. PMID: 22568433
  • Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. Clin Genet. 2013 Jan;83(1):35-43. doi: 10.1111/j.1399-0004.2012.01879.x. Epub 2012 May 1. PMID: 22435390
  • "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Sánchez FJ, Vilain E. Arch Sex Behav. 2012 Feb;41(1):111-9. doi: 10.1007/s10508-012-9912-z. PMID: 22323055
  • Membrane beta-catenin and adherens junctions in early gonadal patterning. Fleming A, Ghahramani N, Zhu MX, Delot EC, Vilain E. Developmental Dynamics. 2012 Nov.
  • Reproductive Endocrinology: Athletes' Bodies - Intersexuality in Athletics. Sanchez FJ, Vilain E. Nature Reviews. Endocrinology. 2011 Nov 29 8(4):198-9.
  • The Evolution of the Search for Novel Genes in Mammalian Sex Determination: From Mice to Men. Arboleda V, Vilain E. Molecular Genetics & Metabolism. 104 (1-2):67-71. 2011.
  • The genetics of sex differences in brain and behavior. Ngun TC, Ghahramani N, Sánchez FJ, Bocklandt S, Vilain E. Front Neuroendocrinol. 2011 Apr;32(2):227-46. doi: 10.1016/j.yfrne.2010.10.001. Epub 2010 Oct 15. Review. PMID: 20951723
  • Regional gray matter variation in male-to-female transsexualism. Luder E, Sanchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. Neuroimage 2009 46:904-907.
  • Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Hare L, Bernard P, Sanchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR. Biological Psychiatry 2009 65(1):93-96.
  • Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E. Biology of the Cell Mar 2008 100(3):167-77. Luders E, Sanchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. Neuroimage 2009 46(1):904-907.
  • Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E. Journal of Endocrinology Jul 2007 194(1):153-60.
  • Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau Y. Urologic Oncology Mar 2007 25(2):141-6.
  • We used to call them hermaphrodites. Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. Genetics in MEdicine Feb 2007 9(2):65-6.
  • Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodriguez LV. Human Genetics Feb 2007 20(6):847-56.
  • Sex differences in brain and behavior: hormones versus genes. Bocklandt S, Vilain E. Advances in Genetics Feb 2007 Vol 59:245-66.
  • A neuropeptide at the origin of testicular aging? Lacombe A, Lelievre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. Oct 2006 Nouvelle Magazine/Medical Science [French] 22(10):809-11.
  • Familial transmission of genitovaginal prolapse. Jack GS, Nikolova G, Vilain E, Raz S, Rodriguez LV. International Urogynecology Journal Sep 2006 17(5):498-501.
  • Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Jul 2006 American Journal of Human Genetics 79(1):113-9.
  • A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. Feb 2007 Molecular Genetics and Metabolism 88(3):272-9.
  • IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. Molecular Genetics and Metabolism May 2006 88(1):66-70.
  • Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice. Lacombe A, Lelievre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. Proceedings of National Academy of Sciences (U.S.A.) Mar 2006 103(10):3793-8.
  • Direct regulation of adult brain function by the male-specific factor SRY. Dewing P, Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E. Current Biology Feb 2006 16(4)L415-20.
  • Extreme skewing of X chromosome inactivation in mothers of homosexual men. Bocklandt S, Horvath S, Vilain E, Hamer DH. Human Genetics Feb 2006 118(6):691-4.
  • The endless quest for sex determination genes. Fleming A, Vilain E. Clinical Genetics Jan 2005 7(1):15-25.