Eric Vilain – Molecular Biology Institute

Publications:

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 12 01; 104(12):5923-5934. view on PubMed

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 10 01; 104(10):4420. view on PubMed

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 08 13; 116(33):16577-16582. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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). view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. view on PubMed

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. view on PubMed

Grody WW, Vilain E, Nelson SF. Interpreting whole-genome sequencing. JAMA. 2014 Jul 16; 312(3):296. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sex Dev. 2014; 8(5):262-72. view on PubMed

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. view on PubMed

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. view on PubMed

Ngun TC, Vilain E. The biological basis of human sexual orientation: is there a role for epigenetics? Adv Genet. 2014; 86:167-84. view on PubMed

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. view on PubMed

Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013; 14:371-92. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. Epigenetic predictor of age. PLoS One. 2011; 6(6):e14821. view on PubMed

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. view on PubMed

Vilain E. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011; 707:105-6. view on PubMed

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. view on PubMed

Sánchez FJ, Vilain E. Genes and brain sex differences. Prog Brain Res. 2010; 186:65-76. view on PubMed

Ching S, Vilain E. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis. 2009 Sep; 47(9):628-37. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

Bocklandt S, Vilain E. Sex differences in brain and behavior: hormones versus genes. Adv Genet. 2007; 59:245-66. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

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. view on PubMed

Dewing P, Bernard P, Vilain E. Disorders of gonadal development. Semin Reprod Med. 2002 Aug; 20(3):189-98. view on PubMed

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. view on PubMed

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. view on PubMed

Jordan BK, Vilain E. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002; 511:1-13; discussion 13-4. view on PubMed

Vilain E. Genetics of sexual development. Annu Rev Sex Res. 2000; 11:1-25. view on PubMed

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. view on PubMed

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