Eric Vilain - Publications

Affiliations: 
University of California, Los Angeles, Los Angeles, CA 
Area:
Genetics, Neuroscience Biology, Animal Physiology Biology

150 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Schnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics. Sociology of Health & Illness. PMID 31225650 DOI: 10.1111/1467-9566.12974  0.52
2019 Parivesh A, Barseghyan H, Délot E, Vilain E. Translating genomics to the clinical diagnosis of disorders/differences of sex development. Current Topics in Developmental Biology. 134: 317-375. PMID 30999980 DOI: 10.1016/bs.ctdb.2019.01.005  0.36
2019 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, ... ... Vilain E, et al. Long-read single-molecule maps of the functional methylome. Genome Research. PMID 30846530 DOI: 10.1101/gr.240739.118  0.36
2019 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. Hormone Research in Paediatrics. 1-13. PMID 30783028 DOI: 10.1159/000496114  0.52
2018 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. Journal of Health and Social Behavior. 22146518802460. PMID 30303019 DOI: 10.1177/0022146518802460  0.52
2018 Barseghyan H, Délot EC, Vilain E. New technologies to uncover the molecular basis of disorders of sex development. Molecular and Cellular Endocrinology. PMID 29655603 DOI: 10.1016/j.mce.2018.04.003  0.36
2018 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. Biology of Sex Differences. 9: 8. PMID 29378665 DOI: 10.1186/s13293-018-0167-9  0.76
2017 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 Medicine. 9: 90. PMID 29070057 DOI: 10.1186/s13073-017-0479-0  0.36
2017 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. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28557237 DOI: 10.1002/ajmg.c.31558  0.52
2017 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. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28504475 DOI: 10.1002/ajmg.c.31559  0.36
2017 Délot EC, Papp JC, Sandberg DE, Vilain E. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinology and Metabolism Clinics of North America. 46: 519-537. PMID 28476235 DOI: 10.1016/j.ecl.2017.01.015  0.52
2016 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, et al. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics. PMID 28031288 DOI: 10.1093/hmg/ddw390  0.64
2016 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. Scientific Reports. 6: 36916. PMID 27845378 DOI: 10.1038/srep36916  0.76
2016 Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukulta SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, et al. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics. PMID 27378692 DOI: 10.1093/hmg/ddw186  0.64
2016 Vouyovitch C, 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. Endocrine-Related Cancer. PMID 27323961 DOI: 10.1530/ERC-15-0528  1
2016 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, ... ... Vilain E, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/humu.22983  1
2016 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. Human Reproduction (Oxford, England). PMID 26911863 DOI: 10.1093/humrep/dew025  1
2016 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. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 371. PMID 26833834 DOI: 10.1098/rstb.2015.0113  1
2016 Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga 3rd LH, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, ... Vilain E, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Hormone Research in Paediatrics. PMID 26820577 DOI: 10.1159/000442975  0.52
2016 Sánchez FJ, Blas-Lopez FJ, Martínez-Patiño MJ, Vilain E. Masculine consciousness and anti-effeminacy among Latino and White gay men Psychology of Men and Masculinity. 17: 54-63. DOI: 10.1037/a0039465  1
2016 Lipson A, Vilain E. Genetic defects affecting adrenal development Jcrpe Journal of Clinical Research in Pediatric Endocrinology. 8: 11.  1
2015 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. European Journal of Medical Genetics. PMID 26721324 DOI: 10.1016/j.ejmg.2015.12.006  1
2015 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, et al. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes, Chromosomes & Cancer. PMID 26542077 DOI: 10.1002/gcc.22319  1
2015 Barseghyan H, Délot E, Vilain E. New genomic technologies: An aid for diagnosis of disorders of sex development Hormone and Metabolic Research. 47: 312-320. PMID 25970709 DOI: 10.1055/s-0035-1548831  1
2015 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, ... ... Vilain E, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg. PMID 25944381 DOI: 10.1038/ejhg.2015.71  1
2015 Rolston AM, Gardner M, Vilain E, Sandberg DE. Parental Reports of Stigma Associated with Child's Disorder of Sex Development. International Journal of Endocrinology. 2015: 980121. PMID 25918529 DOI: 10.1155/2015/980121  1
2015 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 Division. 10: 2. PMID 25861374 DOI: 10.1186/s13008-015-0008-8  1
2015 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. 10: e0119201. PMID 25807146 DOI: 10.1371/journal.pone.0119201  1
2015 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, ... ... Vilain E, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. American Journal of Human Genetics. 96: 498-506. PMID 25728775 DOI: 10.1016/j.ajhg.2015.01.017  1
2015 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, ... ... Vilain E, et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. The Journal of Clinical Endocrinology and Metabolism. 100: E333-44. PMID 25383892 DOI: 10.1210/jc.2014-2605  1
2015 Brownstein CA, Holm IA, Ramoni R, Goldstein DB, Bacino C, Lee B, Eng C, Veeraghavan N, Bernick D, Brownstein C, Holm I, Kohane I, McCray A, Splinter K, Shashi V, ... ... Vilain E, et al. Data Sharing in the Undiagnosed Diseases Network Human Mutation. 36: 985-988. DOI: 10.1002/humu.22840  1
2014 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, ... ... Vilain E, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama. 312: 1880-7. PMID 25326637 DOI: 10.1001/jama.2014.14604  1
2014 Alt M, Lewis AM, Liu WM, Vilain E, Sánchez FJ. On the validity of popular masculinity rating scales with gay men. Archives of Sexual Behavior. 43: 1547-57. PMID 25193131 DOI: 10.1007/s10508-014-0363-6  1
2014 Ngun TC, Vilain E. The biological basis of human sexual orientation: is there a role for epigenetics? Advances in Genetics. 86: 167-84. PMID 25172350 DOI: 10.1016/B978-0-12-800222-3.00008-5  1
2014 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 Neurology. 71: 1237-46. PMID 25133958 DOI: 10.1001/jamaneurol.2014.1944  1
2014 Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nature Reviews. Endocrinology. 10: 603-15. PMID 25091731 DOI: 10.1038/nrendo.2014.130  1
2014 Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E. Hurdling over sex? Sport, science, and equity. Archives of Sexual Behavior. 43: 1035-42. PMID 25085349 DOI: 10.1007/s10508-014-0332-0  1
2014 Grody WW, Vilain E, Nelson SF. Interpreting whole-genome sequencing. Jama. 312: 296. PMID 25027151 DOI: 10.1001/jama.2014.6602  1
2014 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. Biology of Sex Differences. 5: 8. PMID 24976947 DOI: 10.1186/2042-6410-5-8  1
2014 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. Archives of Sexual Behavior. 43: 1043-57. PMID 24923877 DOI: 10.1007/s10508-014-0316-0  1
2014 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 Medical Genetics. 15: 49. PMID 24886118 DOI: 10.1186/1471-2350-15-49  1
2014 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. 197: 885-97. PMID 24793290 DOI: 10.1534/genetics.113.160259  1
2014 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. The New England Journal of Medicine. 370: 943-9. PMID 24597867 DOI: 10.1056/NEJMoa1309635  1
2014 Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 8: 262-72. PMID 24504012 DOI: 10.1159/000357956  1
2014 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. American Journal of Medical Genetics. Part A. 164: 958-65. PMID 24459036 DOI: 10.1002/ajmg.a.36393  1
2014 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 510-5. PMID 24406459 DOI: 10.1038/gim.2013.183  1
2013 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. Biology of Sex Differences. 4: 15. PMID 23926958 DOI: 10.1186/2042-6410-4-15  1
2013 Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annual Review of Genomics and Human Genetics. 14: 371-92. PMID 23875799 DOI: 10.1146/annurev-genom-091212-153417  1
2013 Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Elements of morphology: standard terminology for the external genitalia. American Journal of Medical Genetics. Part A. 161: 1238-63. PMID 23650202 DOI: 10.1002/ajmg.a.35934  1
2013 Sánchez FJ, Martínez-Patiño MJ, Vilain E. The new policy on hyperandrogenism in elite female athletes is not about "sex testing". Journal of Sex Research. 50: 112-5. PMID 23320653 DOI: 10.1080/00224499.2012.752429  1
2013 Sánchez FJ, Bocklandt S, Vilain E. The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Health Psychology : Official Journal of the Division of Health Psychology, American Psychological Association. 32: 52-6. PMID 23025300 DOI: 10.1037/a0029529  1
2013 Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clinical Genetics. 83: 35-43. PMID 22435390 DOI: 10.1111/j.1399-0004.2012.01879.x  1
2013 Sánchez FJ, Vilain E. Transgender Identities: Research and Controversies Handbook of Psychology and Sexual Orientation. DOI: 10.1093/acprof:oso/9780199765218.003.0004  1
2013 Arboleda VA, Vilain E. Disorders of Sex Development Yen and Jaffe's Reproductive Endocrinology: Seventh Edition. 351-376. DOI: 10.1016/B978-1-4557-2758-2.00017-2  1
2012 Fleming A, Ghahramani N, Zhu MX, Délot EC, Vilain E. Membrane β-catenin and adherens junctions in early gonadal patterning. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 241: 1782-98. PMID 22972715 DOI: 10.1002/dvdy.23870  1
2012 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. Nature Genetics. 44: 788-92. PMID 22634751 DOI: 10.1038/ng.2275  1
2012 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. Journal of Neurochemistry. 122: 260-71. PMID 22568433 DOI: 10.1111/j.1471-4159.2012.07782.x  1
2012 Sánchez FJ, Vilain E. "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Archives of Sexual Behavior. 41: 111-9. PMID 22323055 DOI: 10.1007/s10508-012-9912-z  1
2012 Vilain E, Sánchez FJ. Reproductive endocrinology: athletes' bodies, sexed bodies--intersexuality in athletics. Nature Reviews. Endocrinology. 8: 198-9. PMID 22124443 DOI: 10.1038/nrendo.2011.213  1
2012 Vilain EJN. Genetics of Sexual Development and Differentiation Handbook of Sexual and Gender Identity Disorders. 325-353. DOI: 10.1002/9781118269978.ch11  1
2011 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. Psychology of Men & Masculinity. 12: 368-382. PMID 22058659 DOI: 10.1037/a0024057  1
2011 Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Molecular Genetics and Metabolism. 104: 67-71. PMID 21795084 DOI: 10.1016/j.ymgme.2011.06.024  1
2011 Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. Epigenetic predictor of age. Plos One. 6: e14821. PMID 21731603 DOI: 10.1371/journal.pone.0014821  1
2011 Vilain E. The genetics of ovotesticular disorders of sex development. Advances in Experimental Medicine and Biology. 707: 105-6. PMID 21691964 DOI: 10.1007/978-1-4419-8002-1_22  1
2011 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, ... ... Vilain E, et al. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. Plos One. 6: e17793. PMID 21408189 DOI: 10.1371/journal.pone.0017793  1
2011 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, ... ... Vilain E, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. The Journal of Clinical Investigation. 121: 328-41. PMID 21183788 DOI: 10.1172/JCI42580  1
2011 Ngun TC, Ghahramani N, Sánchez FJ, Bocklandt S, Vilain E. The genetics of sex differences in brain and behavior. Frontiers in Neuroendocrinology. 32: 227-46. PMID 20951723 DOI: 10.1016/j.yfrne.2010.10.001  1
2010 Sánchez FJ, Vilain E. Genes and brain sex differences. Progress in Brain Research. 186: 65-76. PMID 21094886 DOI: 10.1016/B978-0-444-53630-3.00005-1  1
2010 Lambert SM, Vilain EJ, Kolon TF. A practical approach to ambiguous genitalia in the newborn period. The Urologic Clinics of North America. 37: 195-205. PMID 20569798 DOI: 10.1016/j.ucl.2010.03.014  1
2010 Sánchez FJ, Westefeld JS, Liu WM, Vilain E. Masculine Gender Role Conflict and Negative Feelings about Being Gay. Professional Psychology, Research and Practice. 41: 104-111. PMID 20428323 DOI: 10.1037/a0015805  1
2010 Sánchez FJ, Bocklandt S, Vilain E. The biology of sexual orientation and gender identity Hormones, Brain and Behavior Online. 1911-1931. DOI: 10.1016/B978-008088783-8.00060-7  1
2009 Sanchez FJ, Bocklandt S, Vilain E. Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychology of Men & Masculinity. 10: 237-243. PMID 20721305 DOI: 10.1037/a0016325  1
2009 Sánchez FJ, Greenberg ST, Liu WM, Vilain E. Reported Effects of Masculine Ideals on Gay Men. Psychology of Men & Masculinity. 10: 73-87. PMID 20628534 DOI: 10.1037/a0013513  1
2009 Sánchez FJ, Vilain E. Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals. Journal of Counseling Psychology. 56: 202-209. PMID 20046949 DOI: 10.1037/a0014573  1
2009 Ching S, Vilain E. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis (New York, N.Y. : 2000). 47: 628-37. PMID 19536807 DOI: 10.1002/dvg.20532  1
2009 Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. Regional gray matter variation in male-to-female transsexualism. Neuroimage. 46: 904-7. PMID 19341803 DOI: 10.1016/j.neuroimage.2009.03.048  1
2009 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. The Journal of Pediatrics. 154: 551-6. PMID 19058814 DOI: 10.1016/j.jpeds.2008.10.043  1
2009 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. Biological Psychiatry. 65: 93-6. PMID 18962445 DOI: 10.1016/j.biopsych.2008.08.033  1
2008 Bernard P, Sim H, Knower K, Vilain E, Harley V. Human SRY inhibits beta-catenin-mediated transcription. The International Journal of Biochemistry & Cell Biology. 40: 2889-900. PMID 18598779 DOI: 10.1016/j.biocel.2008.06.006  1
2008 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. Nature Genetics. 40: 904-8. PMID 18568024 DOI: 10.1038/ng.174  1
2008 Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 179: 419-27. PMID 18458101 DOI: 10.1534/genetics.108.088088  1
2008 Roselli CE, Bocklandt S, Stadelman HL, Wadsworth T, Vilain E, Stormshak F. Prolactin expression in the sheep brain. Neuroendocrinology. 87: 206-15. PMID 18223310 DOI: 10.1159/000114643  1
2008 Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E. Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biology of the Cell / Under the Auspices of the European Cell Biology Organization. 100: 167-77. PMID 17976036 DOI: 10.1042/BC20070072  1
2007 Bocklandt S, Vilain E. Sex differences in brain and behavior: hormones versus genes. Advances in Genetics. 59: 245-66. PMID 17888801 DOI: 10.1016/S0065-2660(07)59009-7  1
2007 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. The Journal of Endocrinology. 194: 153-60. PMID 17592029 DOI: 10.1677/JOE-07-0102  1
2007 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. Urologic Oncology. 25: 141-6. PMID 17349529 DOI: 10.1016/j.urolonc.2006.08.002  1
2007 Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. We used to call them hermaphrodites. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 65-6. PMID 17304046 DOI: 10.1097/GIM.0b013e31802cffcf  1
2007 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. Human Genetics. 120: 847-56. PMID 17021862 DOI: 10.1007/s00439-006-0267-1  1
2007 Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E. Role of vasoactive intestinal peptide (VIP) in steroidogenesis and aging in mouse testis | Rôle du peptide vasoactif intestinal (VIP) dans la stéroïdogenèse et le vieillissement testiculaire Andrologie. 17: 123-128.  1
2006 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?]. MéDecine Sciences : M/S. 22: 809-11. PMID 17026927 DOI: 10.1051/medsci/20062210809  1
2006 Nikolova G, Vilain E. Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development. Nature Clinical Practice. Endocrinology & Metabolism. 2: 231-8. PMID 16932288 DOI: 10.1038/ncpendmet0143  1
2006 Houk CP, Hughes IA, Ahmed SF, Lee PA, Hiort O, Vilain E, Hines M, Berenbaum S, Copeland K, Donohoue P, Baskin L, Mouriquand P, Meyer-Bahlburg H, Carmichael P, Drop S, et al. Summary of consensus statement on intersex disorders and their management Pediatrics. 118: 753-757. PMID 16882833 DOI: 10.1542/peds.2006-0737  1
2006 Lee PA, Houk CP, Ahmed SF, Hughes IA, Achermann J, Ahmed F, Baskin L, Berenbaum S, Bertelloni S, Brock J, Carmichael P, Chase C, Cohen-Kettenis P, Conte F, Copeland K, ... ... Vilain E, et al. Consensus statement on management of intersex disorders Pediatrics. 118: e488-e500. PMID 16882788 DOI: 10.1542/peds.2006-0738  1
2006 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 American Journal of Human Genetics. 79: 113-119. PMID 16773570 DOI: 10.1086/505406  1
2006 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. Proceedings of the National Academy of Sciences of the United States of America. 103: 3793-8. PMID 16505386 DOI: 10.1073/pnas.0505827103  1
2006 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. Molecular Genetics and Metabolism. 88: 66-70. PMID 16504561 DOI: 10.1016/j.ymgme.2006.01.006  1
2006 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. Current Biology : Cb. 16: 415-20. PMID 16488877 DOI: 10.1016/j.cub.2006.01.017  1
2006 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. Molecular Genetics and Metabolism. 88: 272-9. PMID 16459121 DOI: 10.1016/j.ymgme.2005.12.004  1
2006 Bocklandt S, Horvath S, Vilain E, Hamer DH. Extreme skewing of X chromosome inactivation in mothers of homosexual men. Human Genetics. 118: 691-4. PMID 16369763 DOI: 10.1007/s00439-005-0119-4  1
2006 Jack GS, Nikolova G, Vilain E, Raz S, Rodríguez LV. Familial transmission of genitovaginal prolapse. International Urogynecology Journal and Pelvic Floor Dysfunction. 17: 498-501. PMID 16365693 DOI: 10.1007/s00192-005-0054-x  1
2006 Vilain E. Genetics of intersexuality Journal of Gay and Lesbian Psychotherapy. 10: 9-26. DOI: 10.1300/J236v10n02_02  1
2005 Fleming A, Vilain E. The endless quest for sex determination genes Clinical Genetics. 67: 15-25. PMID 15617542 DOI: 10.1111/j.1399-0004.2004.00376.x  1
2004 Vilain E. Dead chromosome walking. Pediatric Research. 55: 539-40. PMID 14999104 DOI: 10.1203/01.PDR.0000123762.03212.B1  1
2004 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. American Journal of Medical Genetics. Part A. 125: 293-8. PMID 14994240 DOI: 10.1002/ajmg.a.20455  1
2004 Domenice S, Correa RV, Costa EMF, Nishi MY, Vilain E, Arnhold IJP, Mendonca BB. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients Brazilian Journal of Medical and Biological Research. 37: 145-150. PMID 14689056  1
2003 Dewing P, Shi T, Horvath S, Vilain E. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Research. Molecular Brain Research. 118: 82-90. PMID 14559357 DOI: 10.1016/S0169-328X(03)00339-5  1
2003 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. Proceedings of the National Academy of Sciences of the United States of America. 100: 10866-71. PMID 12949260 DOI: 10.1073/pnas.1834480100  1
2003 Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Human Molecular Genetics. 12: 1755-65. PMID 12837698 DOI: 10.1093/hmg/ddg182  1
2002 Jordan BK, Vilain E. Sry and the genetics of sex determination. Advances in Experimental Medicine and Biology. 511: 1-13; discussion 13-. PMID 12575752  1
2002 Dewing P, Bernard P, Vilain E. Disorders of gonadal development. Seminars in Reproductive Medicine. 20: 189-98. PMID 12428199 DOI: 10.1055/s-2002-35383  1
2002 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. Molecular Genetics and Metabolism. 77: 195-201. PMID 12409266 DOI: 10.1016/S1096-7192(02)00169-5  1
2002 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. The Journal of Clinical Endocrinology and Metabolism. 87: 3428-32. PMID 12107262 DOI: 10.1210/jcem.87.7.8646  1
2002 Shalitin S, Josefsberg Z, Vilain E, Shomrat R, Weintrob N. Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene Molecular Genetics and Metabolism. 76: 157-161. PMID 12083815 DOI: 10.1016/S1096-7192(02)00029-X  1
2002 Vilain E. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Foundation Symposium. 244: 43-53; discussion 53. PMID 11990797  1
2001 Jordan BK, Mohammed M, Ching ST, Délot E, Chen XN, Dewing P, Swain A, Rao PN, Elejalde BR, Vilain E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. American Journal of Human Genetics. 68: 1102-9. PMID 11283799 DOI: 10.1086/320125  1
2001 Patel M, Dorman KS, Zhang YH, Huang BL, Arnold AP, Sinsheimer JS, Vilain E, McCabe ER. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. American Journal of Human Genetics. 68: 275-80. PMID 11112659 DOI: 10.1086/316932  1
2000 Dewing P, Ching ST, Zhang YH, Huang BL, Peirce RM, McCabe ER, Vilain E. Midkine is expressed early in rat fetal adrenal development. Molecular Genetics and Metabolism. 71: 616-22. PMID 11136554 DOI: 10.1006/mgme.2000.3111  1
2000 Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Human Mutation. 15: 316-23. PMID 10737976 DOI: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9  1
2000 Cederbaum S, Vilain E. Defects in energy metabolism: Coming of age, slowly Journal of Pediatrics. 136: 147-148. PMID 10657817  1
1999 Vilain E, Merrer MLE, Lecointre C, Desangles F, Kay MA, Maroteaux P, Mccabe ERB. IMAGe, a new clinical association of Intrauterine growth retardation, Metaphyseal dysplasia, adrenal hypoplasia congenita, and Genital anomalies Journal of Clinical Endocrinology and Metabolism. 84: 4335-4340. PMID 10599684  1
1999 Cederbaum S, Vilain E. Newborn screening for inborn errors of metabolism is going to expand: Are we ready? Journal of Pediatrics. 134: 666-667. PMID 10356131  1
1998 Vilain E. CYPs, SNPs, and molecular diagnosis in the postgenomic era Clinical Chemistry. 44: 2403-2404. PMID 9836703  1
1998 Vilain E, McCabe ERB. Mammalian sex determination: From gonads to brain Molecular Genetics and Metabolism. 65: 74-84. PMID 9787099 DOI: 10.1006/mgme.1998.2749  1
1998 Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, et al. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. American Journal of Human Genetics. 62: 855-64. PMID 9529340 DOI: 10.1086/301782  1
1997 Vilain E, Guo W, Zhang YH, McCabe ERB. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical Carcinoma cell line Biochemical and Molecular Medicine. 61: 1-8. PMID 9232190 DOI: 10.1006/bmme.1997.2601  1
1996 McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proceedings of the National Academy of Sciences of the United States of America. 93: 8590-4. PMID 8710915  1
1996 Patel M, Vilain E, Dorman K, Zhang YH, Huang BL, Arnold A, Sinsheimer J, McCabe ERB. DAX1: Rapid evolution in primates suggests a role early in the sex determination pathway Investigative Ophthalmology and Visual Science. 37: 24A.  1
1995 Desangles F, Vilain E, Arborio M, De Revel T, Flandrin G. T(15;17) hypergranular acute promyelocytic leukemia (m3) developing into a t(3;6) m3 without t(15;17) at relapse Leukemia and Lymphoma. 19: 185-188. PMID 8574167 DOI: 10.3109/10428199509059675  1
1995 Barbaux S, Vilain E, Raoul O, Gilgenkrantz S, Jeandidier E, Chadenas D, Souleyreau N, Fellous M, McElreavey K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Human Molecular Genetics. 4: 1565-8. PMID 8541840 DOI: 10.1093/hmg/4.9.1565  1
1995 Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Human Genetics. 96: 464-8. PMID 7557971 DOI: 10.1007/BF00191807  1
1995 Barbaux S, Vilain E, McElreavey K, Fellous M. A view on sex determination in mammals Medecine/Sciences. 11: 529-536.  1
1994 Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, Fellous M. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences Clinical Endocrinology. 40: 733-742. PMID 8033363  1
1994 Vilain E, Fiblec BL, Morichon-Delvallez N, Brauner R, Dommergues M, Dumez Y, Jaubert F, Boucekkine C, McElreavey K, Vekemans M, Fellous M. SRY-negative XX fetus with complete male phenotype The Lancet. 343: 240-241. PMID 7904700 DOI: 10.1016/S0140-6736(94)91029-4  1
1994 Vilain E, Bompard Y, Clement K, Laplanche S, De Kermadec S, Aufrant C. Thyroid effect of iodinated antiseptic application in neonates Archives De Pediatrie. 1: 795-800. PMID 7842121  1
1993 McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proceedings of the National Academy of Sciences of the United States of America. 90: 3368-72. PMID 8475082  1
1993 Vilain E, Jaubert F, Fellous M, McElreavey K. Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor. Differentiation; Research in Biological Diversity. 52: 151-9. PMID 8472885 DOI: 10.1111/j.1432-0436.1993.tb00625.x  1
1993 Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. Comptes Rendus De L'AcadéMie Des Sciences. SéRie Iii, Sciences De La Vie. 316: 375-83. PMID 8402263  1
1993 Toublanc JE, Boucekkine C, Abbas N, Barama D, Vilain E, McElreavey K, Toublanc M, Fellous M. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. European Journal of Pediatrics. 152: S70-5. PMID 8339747 DOI: 10.1007/BF02125443  1
1993 McElreavey K, Vilain E, Cotinot C, Payen E, Fellous M. Control of sex determination in animals. European Journal of Biochemistry / Febs. 218: 769-83. PMID 8281929 DOI: 10.1111/j.1432-1033.1993.tb18432.x  1
1993 Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc JE, Kucheria K, Chaabouni S, Robel P, Gompel A, Joseph MG, Lambert JC, Lortat-Jacob S, et al. XY gonadal dysgenesis and SRY Annales D'Endocrinologie. 54: 315-321. PMID 8085778  1
1992 McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. XY sex reversal associated with a nonsense mutation in SRY. Genomics. 13: 838-40. PMID 1639410 DOI: 10.1016/0888-7543(92)90164-N  1
1992 Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. American Journal of Human Genetics. 50: 1008-11. PMID 1570829  1
1992 Vilain E, McElreavey K, Richaud F, Fellous M. [Isolation of the sex-determining gene in men]. Pathologie-Biologie. 40: 15-7. PMID 1570176  1
1992 Vilain E, Elreavey KM, Richaud F, Fellous M. [Sex genetics]. Presse MéDicale (Paris, France : 1983). 21: 852-6. PMID 1535151  1
1992 Mcelreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region Proceedings of the National Academy of Sciences of the United States of America. 89: 11016-11020. PMID 1438307  1
1992 McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, LeConiat M, Boucekkine C, Kucheria K, Temtamy S, Nihoul-Fekete C, Brauner R, Fellous M. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY Human Genetics. 90: 121-125. PMID 1427767 DOI: 10.1007/BF00210754  1
1992 Boucekkine C, Toublanc JE, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M. The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability. Hormone Research. 37: 236-40. PMID 1292977 DOI: 10.1159/000182319  1
1992 Vilain E, Fellous M, McElreavey K. Characterization and sequence of the 5' flanking region of the human testis-determining factor SRY Methods in Molecular and Cellular Biology. 3: 128-134.  1
1992 Vilain E, McElreavey K, Herskowitz I, Fellous M. Sex determination: Facts and new concepts | LA DETERMINATION DU SEXE: FAITS ET NOUVEAUX CONCEPTS Medecine/Sciences. 8: I-VII.  1
1991 Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M. [The analysis of SRY doesn't explain all the pathology of sex determination]. Annales D'Endocrinologie. 52: 435-6. PMID 1824496  1
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