Eric J N Vilain

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(949) 824-3353
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    Collapse Research 
    Collapse Research Activities and Funding
    Mobile Diagnosis of Congenital Genetic Conditions: A Model for Screening and Surveillance in Low-Resource Settings
    NIH R21HD102988Sep 1, 2021 - Aug 31, 2023
    Role: Principal Investigator
    Pediatric Mendelian Genomics Research Center
    NIH U01HG011745Jun 1, 2021 - Mar 31, 2026
    Role: Principal Investigator
    Optical Genome Mapping (OGM) for Concurrent Genetic and Epigenetic Diagnosis of Inborn Disorders
    NIH R21HG011424Sep 1, 2020 - Aug 31, 2022
    Role: Principal Investigator
    Disorders/Differences of Sex Development (DSD) - Translational Research Network
    NIH R01HD093450Jul 15, 2018 - Mar 31, 2023
    Role: Co-Principal Investigator
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH U01HG007703Jul 1, 2014 - Jun 30, 2022
    Role: Co-Principal Investigator
    Genetic Mechanisms in Klinefelter Syndrome-Related Behaviors
    NIH R01HD076125Jun 1, 2014 - May 31, 2020
    Role: Co-Principal Investigator
    Disorders of Sex Development: Platform for Basic and Translational Research
    NIH R01HD068138Sep 26, 2011 - Jun 30, 2017
    Role: Principal Investigator
    Role of the Male-Specific Factor Sry in Brain Function
    NIH R01MH075046Aug 31, 2007 - Jul 31, 2013
    Role: Principal Investigator
    Gene Dosage in Mammalian Sexual Development
    NIH R01HD044513Jul 15, 2003 - Mar 31, 2015
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH T32GM008243Jul 1, 1987 - Jun 30, 2026
    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development. Biol Sex Differ. 2024 Mar 22; 15(1):24. Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E. PMID: 38520033; PMCID: PMC10958866.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    2. Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement. Horm Res Paediatr. 2024 Feb 02. Cools M, Cheng EY, Hall J, Alderson J, Amies Oelschlager AM, Balen AH, Chan YM, Geffner ME, Gravholt CH, Güran T, Hoebeke P, Lee P, Magritte E, Matos D, McElreavey K, Meyer-Bahlburg HFL, Rink RC, Springer A, Szymanski KM, Vilain E, Williams J, Wolffenbuttel KP, Sandberg DE, Subramaniam R. PMID: 38310850.
      View in: PubMed   Mentions:    Fields:    
    3. Using a chat-based informed consent tool in large-scale genomic research. J Am Med Inform Assoc. 2024 Jan 18; 31(2):472-478. Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. PMID: 37665746; PMCID: PMC10797258.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Benchmarking long-read genome sequence alignment tools for human genomics applications. PeerJ. 2023; 11:e16515. LoTempio J, Delot E, Vilain E. PMID: 38130927; PMCID: PMC10734412.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic. BMC Med Genomics. 2023 10 30; 16(1):268. Kocher K, Bhattacharya S, Niforatos-Andescavage N, Almalvez M, Henderson D, Vilain E, Limperopoulos C, Délot EC. PMID: 37899449; PMCID: PMC10614377.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCellsPHPublic Health
    6. Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion. J Pathol. 2023 07; 260(3):329-338. Bornhorst M, Eze A, Bhattacharya S, Putnam E, Almira-Suarez MI, Rossi C, Kambhampati M, Almalvez M, Barseghyan M, Del Risco N, Dotson D, Turner J, Myseros JS, Vilain E, Packer RJ, Nazarian J, Rood B, Barseghyan H. PMID: 37203791; PMCID: PMC10330119.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis. Clin Genet. 2023 09; 104(3):377-383. Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. PMID: 37194472; PMCID: PMC10524710.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. "Development and Implementation of Novel Chatbot-based Genomic Research Consent". bioRxiv. 2023 Jan 24. Smith ED, Savage SK, Andrew EH, Martin GM, Kahn-Kirby AH, LoTempio J, Délot E, Cohen AJ, Pitsava G, Berger S, Fusaro VA, Vilain E. PMID: 36747692; PMCID: PMC9900780.
      View in: PubMed   Mentions:
    9. DNA methylation patterns associated with konzo in Sub-Saharan Africa. Clin Epigenetics. 2022 12 19; 14(1):179. Kocher K, Bhattacharya S, Bramble MS, Okitundu-Luwa D, Ngoyi DM, Tshala-Katumbay D, Vilain E. PMID: 36536449; PMCID: PMC9764695.
      View in: PubMed   Mentions: 1     Fields:    Translation:Cells
    10. Identification of differential hypothalamic DNA methylation and gene expression associated with sexual partner preferences in rams. PLoS One. 2022; 17(5):e0263319. Bhattacharya S, Amodei R, Vilain E, Roselli CE. PMID: 35552544; PMCID: PMC9098078.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    11. Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care. Lancet Diabetes Endocrinol. 2022 06; 10(6):381-383. Sandberg DE, Vilain E. PMID: 35461574.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Effects of COVID-19 Home Confinement on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes. Int J Environ Res Public Health. 2021 12 03; 18(23). Martínez-Patiño MJ, Blas Lopez FJ, Dubois M, Vilain E, Fuentes-García JP. PMID: 34886503; PMCID: PMC8656930.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCellsPHPublic Health
    13. The gut microbiome in konzo. Nat Commun. 2021 09 10; 12(1):5371. Bramble MS, Vashist N, Ko A, Priya S, Musasa C, Mathieu A, Spencer A, Lupamba Kasendue M, Mamona Dilufwasayo P, Karume K, Nsibu J, Manya H, Uy MNA, Colwell B, Boivin M, Mayambu JPB, Okitundu D, Droit A, Mumba Ngoyi D, Blekhman R, Tshala-Katumbay D, Vilain E. PMID: 34508085; PMCID: PMC8433213.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    14. The End of Compulsory Gender Verification: Is It Progress for Inclusion of Women in Sports? Arch Sex Behav. 2021 10; 50(7):2799-2807. Ospina-Betancurt J, Vilain E, Martinez-Patiño MJ. PMID: 34494166; PMCID: PMC8563513.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    15. Long reads capture simultaneous enhancer-promoter methylation status for cell-type deconvolution. Bioinformatics. 2021 07 12; 37(Suppl_1):i327-i333. Margalit S, Abramson Y, Sharim H, Manber Z, Bhattacharya S, Chen YW, Vilain E, Barseghyan H, Elkon R, Sharan R, Ebenstein Y. PMID: 34252972; PMCID: PMC8275347.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    16. Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing. J Pediatr. 2021 Oct; 237:125-135.e18. DeBiasi RL, Harahsheh AS, Srinivasalu H, Krishnan A, Sharron MP, Parikh K, Smith K, Bell M, Michael D, Delaney M, Campos J, Vilain E, LoTempio J, Kline JN, Ronis T, Majumdar S, Sadler E, Conway SR, Berul CI, Sule S, Lahoz R, Ansusinha E, Pershad J, Bundy V, Wells E, Bost JE, Wessel D, Children's National Hospital MIS-C Taskforce. PMID: 34181987.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCellsPHPublic Health
    17. Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo. Eur J Med Genet. 2021 Sep; 64(9):104267. Porras AR, Bramble MS, Mosema Be Amoti K, Spencer D, Dakande C, Manya H, Vashist N, Likuba E, Ebwel JM, Musasa C, Malherbe H, Mohammed B, Tor-Diez C, Ngoyi DM, Katumbay DT, Linguraru MG, Vilain E. PMID: 34161860; PMCID: PMC8363515.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    18. Transgender Youth Executive Functioning: Relationships with Anxiety Symptoms, Autism Spectrum Disorder, and Gender-Affirming Medical Treatment Status. Child Psychiatry Hum Dev. 2022 12; 53(6):1252-1265. Strang JF, Chen D, Nelson E, Leibowitz SF, Nahata L, Anthony LG, Song A, Grannis C, Graham E, Henise S, Vilain E, Sadikova E, Freeman A, Pugliese C, Khawaja A, Maisashvili T, Mancilla M, Kenworthy L. PMID: 34146208.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    19. In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents. J Clin Child Adolesc Psychol. 2023 Mar-Apr; 52(2):212-229. Strang JF, Anthony LG, Song A, Lai MC, Knauss M, Sadikova E, Graham E, Zaks Z, Wimms H, Willing L, Call D, Mancilla M, Shakin S, Vilain E, Kim DY, Maisashvili T, Khawaja A, Kenworthy L. PMID: 34121545.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    20. Towards improved genetic diagnosis of human differences of sex development. Nat Rev Genet. 2021 09; 22(9):588-602. Délot EC, Vilain E. PMID: 34083777; PMCID: PMC10598994.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    21. The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group. J Sex Med. 2021 06; 18(6):1122-1129. Mueller SC, Guillamon A, Zubiaurre-Elorza L, Junque C, Gomez-Gil E, Uribe C, Khorashad BS, Khazai B, Talaei A, Habel U, Votinov M, Derntl B, Lanzenberger R, Seiger R, Kranz GS, Kreukels BPC, Kettenis PTC, Burke SM, Lambalk NB, Veltman DJ, Kennis M, Sánchez FJ, Vilain E, Fisher AD, Mascalchi M, Gavazzi G, Orsolini S, Ristori J, Dannlowski U, Grotegerd D, Konrad C, Schneider MA, T'Sjoen G, Luders E. PMID: 34030966.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    22. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 07; 9(7):e1665. Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Undiagnosed Diseases Network, Vilain E, Shashi V. PMID: 33955715; PMCID: PMC8372083.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    23. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 02 04; 108(2):346-356. den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistiene L, Coon H, DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kucinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitiene E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. PMID: 33513338; PMCID: PMC7895900.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    24. nanotatoR: a tool for enhanced annotation of genomic structural variants. BMC Genomics. 2021 Jan 06; 22(1):10. Bhattacharya S, Barseghyan H, Délot EC, Vilain E. PMID: 33407088; PMCID: PMC7789800.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    25. Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth. Transgend Health. 2020; 5(4):246-257. Chen D, Strang JF, Kolbuck VD, Rosenthal SM, Wallen K, Waber DP, Steinberg L, Sisk CL, Ross J, Paus T, Mueller SC, McCarthy MM, Micevych PE, Martin CL, Kreukels BPC, Kenworthy L, Herting MM, Herlitz A, Haraldsen IRJH, Dahl R, Crone EA, Chelune GJ, Burke SM, Berenbaum SA, Beltz AM, Bakker J, Eliot L, Vilain E, Wallace GL, Nelson EE, Garofalo R. PMID: 33376803; PMCID: PMC7759272.
      View in: PubMed   Mentions: 13  
    26. Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectives. Food Chem Toxicol. 2021 Feb; 148:111917. Rwatambuga FA, Ali ER, Bramble MS, Gosschalk JE, Kim M, Yandju DL, Okitundu LA, Boivin MJ, Banea JP, Westaway SK, Larry D, Vilain E, Mumba Ngoyi D, Tshala-Katumbay DD. PMID: 33296712; PMCID: PMC7855927.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    27. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49). Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, CAUSES Study, Martin MG, Martinez-Agosto JA, Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. PMID: 33268356; PMCID: PMC7821880.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimals
    28. COVID-19 and the International Academy of Sex Research: We Will Be Back. Arch Sex Behav. 2020 07; 49(5):1401. Mustanski B, Vilain E, Dworkin SL, Suschinsky KD, Zucker KJ. PMID: 32399914; PMCID: PMC7217342.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCellsPHPublic Health
    29. Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States. Int J Neonatal Screen. 2020 Jun; 6(2). Speiser PW, Chawla R, Chen M, Diaz-Thomas A, Finlayson C, Rutter MM, Sandberg DE, Shimy K, Talib R, Cerise J, Vilain E, Délot EC. PMID: 32832708; PMCID: PMC7422998.
      View in: PubMed   Mentions: 11  
    30. Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. Front Oncol. 2019; 9:1507. Lee S, Kambhampati M, Almira-Suarez MI, Ho CY, Panditharatna E, Berger SI, Turner J, Van Mater D, Kilburn L, Packer RJ, Myseros JS, Vilain E, Nazarian J, Bornhorst M. PMID: 32010615; PMCID: PMC6971203.
      View in: PubMed   Mentions: 1  
    31. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 01 02; 106(1):121-128. 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. PMID: 31883643; PMCID: PMC7042489.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    32. 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. 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. PMID: 31287541.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    33. 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. Foreman M, Vilain E, Harley V. PMID: 30942840.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    34. Development of a decision support tool in pediatric Differences/Disorders of Sex Development. Semin Pediatr Surg. 2019 Oct; 28(5):150838. Sandberg DE, Gardner M, Kopec K, Urbanski M, Callens N, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Timmermans S, Siminoff LA. PMID: 31668291; PMCID: PMC6911706.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    35. 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. Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley VR. PMID: 31371505; PMCID: PMC6697880.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    36. The Role of Sex Research Organizations in Eliminating Sexual Harassment. Arch Sex Behav. 2020 05; 49(4):1095. Byers ES, Mustanski B, Semenyna S, Suschinsky KD, Vilain E. PMID: 31263992.
      View in: PubMed   Mentions:    Fields:    
    37. Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics. Sociol Health Illn. 2019 11; 41(8):1520-1534. Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. PMID: 31225650.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    38. Sex steroid hormone modulation of neural stem cells: a critical review. Biol Sex Differ. 2019 05 30; 10(1):28. Bramble MS, Vashist N, Vilain E. PMID: 31146782; PMCID: PMC6543604.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    39. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. 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. PMID: 30817854; PMCID: PMC6661012.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    40. Science's place in shaping gender-based policies in athletics. Lancet. 2019 Apr 13; 393(10180):1504. Vilain E, Martinez-Patiño MJ. PMID: 30952464.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    41. Translating genomics to the clinical diagnosis of disorders/differences of sex development. Curr Top Dev Biol. 2019; 134:317-375. Parivesh A, Barseghyan H, Délot E, Vilain E. PMID: 30999980; PMCID: PMC7382024.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    42. Long-read single-molecule maps of the functional methylome. Genome Res. 2019 04; 29(4):646-656. 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. PMID: 30846530; PMCID: PMC6442387.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    43. Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool. Horm Res Paediatr. 2018; 90(6):368-380. Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE, The DSD-Translational Research Network Leadership Group and Psychosocial Workgroup. PMID: 30783028; PMCID: PMC6512800.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    44. Genetic Link Between Gender Dysphoria and Sex Hormone Signaling. J Clin Endocrinol Metab. 2019 02 01; 104(2):390-396. Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR. PMID: 30247609.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    45. 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. Mullegama SV, Klein SD, Signer RH, UCLA Clinical Genomics Center, Vilain E, Martinez-Agosto JA. PMID: 30447054; PMCID: PMC6393687.
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    46. Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors. J Infect Dis. 2018 11 05; 218(12):1929-1936. 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. PMID: 30107445; PMCID: PMC6217721.
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    47. 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. Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. PMID: 30303019.
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    48. New technologies to uncover the molecular basis of disorders of sex development. Mol Cell Endocrinol. 2018 06 15; 468:60-69. Barseghyan H, Délot EC, Vilain E. PMID: 29655603; PMCID: PMC7249677.
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    49. 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. 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. PMID: 29378665; PMCID: PMC5789682.
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    50. 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. Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. PMID: 29070057; PMCID: PMC5655859.
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    51. 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). 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. PMID: 28933790.
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    52. Emerging issues in disorders/differences of sex development (DSD). Am J Med Genet C Semin Med Genet. 2017 06; 175(2):249-252. Adam MP, Vilain E. PMID: 28577349.
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    53. 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. Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE, members of the DSD-TRN Advocacy, Advisory Network Accord Alliance. PMID: 28557237; PMCID: PMC5479330.
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    54. 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. Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. PMID: 28504475; PMCID: PMC5489227.
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    55. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinol Metab Clin North Am. 2017 06; 46(2):519-537. Délot EC, Papp JC, DSD-TRN Genetics Workgroup, Sandberg DE, Vilain E. PMID: 28476235; PMCID: PMC5714504.
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    56. 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. Bramble MS, Lipson A, Vashist N, Vilain E. PMID: 27841933; PMCID: PMC7301881.
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    57. 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. 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, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. PMID: 28031288; PMCID: PMC5886042.
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    58. 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. Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. PMID: 27845378; PMCID: PMC5109279.
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    59. Sexual Orientation, Controversy, and Science. Psychol Sci Public Interest. 2016 Sep; 17(2):45-101. Bailey JM, Vasey PL, Diamond LM, Breedlove SM, Vilain E, Epprecht M. PMID: 27113562.
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    60. The unfinished race: 30 years of gender verification in sport. Lancet. 2016 Aug 06; 388(10044):541-3. Martínez-Patiño MJ, Vilain E, Bueno-Guerra N. PMID: 27511770.
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    61. Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective? Transgend Health. 2016; 1(1):165-171. Nelson MD, Szczepaniak LS, Wei J, Szczepaniak E, Sánchez FJ, Vilain E, Stern JH, Bergman RN, Bairey Merz CN, Clegg DJ. PMID: 29159307; PMCID: PMC5685281.
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    62. 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. 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, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. PMID: 27378692; PMCID: PMC5179941.
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    63. WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells. Endocr Relat Cancer. 2016 07; 23(7):571-85. Vouyovitch CM, Perry JK, Liu DX, Bezin L, Vilain E, Diaz JJ, Lobie PE, Mertani HC. PMID: 27323961.
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    64. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. 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, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
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    65. 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. 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. PMID: 26911863; PMCID: PMC5007606.
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    66. The importance of having two X chromosomes. Philos Trans R Soc Lond B Biol Sci. 2016 Feb 19; 371(1688):20150113. Arnold AP, Reue K, Eghbali M, Vilain E, Chen X, Ghahramani N, Itoh Y, Li J, Link JC, Ngun T, Williams-Burris SM. PMID: 26833834; PMCID: PMC4785899.
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    67. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016; 85(3):158-80. 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 DSD Update Consortium. PMID: 26820577.
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    68. 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. Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. PMID: 26721324.
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    69. 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. 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. PMID: 26542077.
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    70. 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. 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. PMID: 25944381; PMCID: PMC4613469.
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    71. Parental Reports of Stigma Associated with Child's Disorder of Sex Development. Int J Endocrinol. 2015; 2015:980121. Rolston AM, Gardner M, Vilain E, Sandberg DE. PMID: 25918529; PMCID: PMC4396550.
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    72. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015; 10:2. Borges KS, Arboleda VA, Vilain E. PMID: 25861374; PMCID: PMC4389716.
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    73. Acceleration of age-associated methylation patterns in HIV-1-infected adults. PLoS One. 2015; 10(3):e0119201. Rickabaugh TM, Baxter RM, Sehl M, Sinsheimer JS, Hultin PM, Hultin LE, Quach A, Martínez-Maza O, Horvath S, Vilain E, Jamieson BD. PMID: 25807146; PMCID: PMC4373843.
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    74. 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. 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, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. PMID: 25728775; PMCID: PMC4375619.
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    75. Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. J Clin Endocrinol Metab. 2015 Mar; 100(3):828-30. Bermon S, Vilain E, Fénichel P, Ritzén M. PMID: 25587809.
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    76. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. 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. PMID: 25326637; PMCID: PMC4278636.
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    77. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. 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. PMID: 25383892; PMCID: PMC4318895.
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    78. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. 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. PMID: 25133958; PMCID: PMC4324730.
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    79. On the validity of popular masculinity rating scales with gay men. Arch Sex Behav. 2014 Nov; 43(8):1547-57. Alt M, Lewis AM, Liu WM, Vilain E, Sánchez FJ. PMID: 25193131.
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    80. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. Arboleda VA, Sandberg DE, Vilain E. PMID: 25091731; PMCID: PMC4441533.
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    81. Hurdling over sex? Sport, science, and equity. Arch Sex Behav. 2014 Aug; 43(6):1035-42. Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E. PMID: 25085349.
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    82. 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. Ritzén M, Ljungqvist A, Budgett R, Garnier PY, Bermon S, Lindén-Hirschberg A, Vilain E, Martínez-Patiño MJ. PMID: 24954211.
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    83. Interpreting whole-genome sequencing. JAMA. 2014 Jul 16; 312(3):296. Grody WW, Vilain E, Nelson SF. PMID: 25027151.
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    84. Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome. Arch Sex Behav. 2014 Aug; 43(6):1043-57. Ngun TC, Ghahramani NM, Creek MM, Williams-Burris SM, Barseghyan H, Itoh Y, Sánchez FJ, McClusky R, Sinsheimer JS, Arnold AP, Vilain E. PMID: 24923877; PMCID: PMC4371776.
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    85. The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging. Biol Sex Differ. 2014; 5:8. 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. PMID: 24976947; PMCID: PMC4074311.
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    86. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 2014 Jul; 197(3):885-97. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. PMID: 24793290; PMCID: PMC4096368.
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    87. 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. 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. PMID: 24886118; PMCID: PMC4072606.
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    88. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 06; 370(10):943-949. 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. PMID: 24597867; PMCID: PMC4068824.
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    89. The genetics of disorders of sex development in humans. Sex Dev. 2014; 8(5):262-72. Ohnesorg T, Vilain E, Sinclair AH. PMID: 24504012.
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    90. 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. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. PMID: 24459036.
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    91. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jul; 16(7):510-5. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. PMID: 24406459; PMCID: PMC4079763.
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    92. The biological basis of human sexual orientation: is there a role for epigenetics? Adv Genet. 2014; 86:167-84. Ngun TC, Vilain E. PMID: 25172350.
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    93. The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance. Biol Sex Differ. 2013 Aug 08; 4(1):15. Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP. PMID: 23926958; PMCID: PMC3751353.
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    94. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013; 14:371-92. Baxter RM, Vilain E. PMID: 23875799; PMCID: PMC4447314.
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    95. Elements of morphology: standard terminology for the external genitalia. Am J Med Genet A. 2013 Jun; 161A(6):1238-63. Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. PMID: 23650202; PMCID: PMC4440541.
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    96. The new policy on hyperandrogenism in elite female athletes is not about "sex testing". J Sex Res. 2013; 50(2):112-5. Sánchez FJ, Martínez-Patiño MJ, Vilain E. PMID: 23320653; PMCID: PMC3554857.
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    97. Membrane β-catenin and adherens junctions in early gonadal patterning. Dev Dyn. 2012 Nov; 241(11):1782-98. Fleming A, Ghahramani N, Zhu MX, Délot EC, Vilain E. PMID: 22972715; PMCID: PMC3677039.
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    98. 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. Sánchez FJ, Bocklandt S, Vilain E. PMID: 23025300; PMCID: PMC4031032.
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    99. Increased Cortical Thickness in Male-to-Female Transsexualism. J Behav Brain Sci. 2012 Aug; 2(3):357-362. Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. PMID: 23724358; PMCID: PMC3665407.
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    100. 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. Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR. PMID: 22568433; PMCID: PMC3529967.
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    101. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. 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. PMID: 22634751; PMCID: PMC3386373.
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    102. "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Arch Sex Behav. 2012 Feb; 41(1):111-9. Sánchez FJ, Vilain E. PMID: 22323055.
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    103. Reproductive endocrinology: athletes' bodies, sexed bodies--intersexuality in athletics. Nat Rev Endocrinol. 2011 Nov 29; 8(4):198-9. Vilain E, Sánchez FJ. PMID: 22124443.
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    104. 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. Sánchez FJ, Liu WM, Leathers L, Goins J, Vilain E. PMID: 22058659; PMCID: PMC3207495.
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    105. 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. Arboleda VA, Vilain E. PMID: 21795084; PMCID: PMC3171521.
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    106. Epigenetic predictor of age. PLoS One. 2011; 6(6):e14821. Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. PMID: 21731603; PMCID: PMC3120753.
      View in: PubMed   Mentions: 381     Fields:    Translation:HumansCells
    107. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793. 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. PMID: 21408189; PMCID: PMC3049794.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    108. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011; 707:105-6. Vilain E. PMID: 21691964.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    109. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan; 121(1):328-41. 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. PMID: 21183788; PMCID: PMC3007141.
      View in: PubMed   Mentions: 93     Fields:    Translation:HumansAnimalsCells
    110. The genetics of sex differences in brain and behavior. Front Neuroendocrinol. 2011 Apr; 32(2):227-46. Ngun TC, Ghahramani N, Sánchez FJ, Bocklandt S, Vilain E. PMID: 20951723; PMCID: PMC3030621.
      View in: PubMed   Mentions: 110     Fields:    Translation:HumansAnimalsCells
    111. A practical approach to ambiguous genitalia in the newborn period. Urol Clin North Am. 2010 May; 37(2):195-205. Lambert SM, Vilain EJ, Kolon TF. PMID: 20569798.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    112. Masculine Gender Role Conflict and Negative Feelings about Being Gay. Prof Psychol Res Pr. 2010 Apr 01; 41(2):104-111. Sánchez FJ, Westefeld JS, Liu WM, Vilain E. PMID: 20428323; PMCID: PMC2860327.
      View in: PubMed   Mentions: 10  
    113. Genes and brain sex differences. Prog Brain Res. 2010; 186:65-76. Sánchez FJ, Vilain E. PMID: 21094886.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    114. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis. 2009 Sep; 47(9):628-37. Ching S, Vilain E. PMID: 19536807.
      View in: PubMed   Mentions: 40     Fields:    Translation:AnimalsCells
    115. Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychol Men Masc. 2009 Jul 01; 10(3):237-243. Sanchez FJ, Bocklandt S, Vilain E. PMID: 20721305; PMCID: PMC2922761.
      View in: PubMed   Mentions: 2  
    116. Regional gray matter variation in male-to-female transsexualism. Neuroimage. 2009 Jul 15; 46(4):904-7. Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. PMID: 19341803; PMCID: PMC2754583.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    117. Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals. J Couns Psychol. 2009 Jan 01; 56(1):202-209. Sánchez FJ, Vilain E. PMID: 20046949; PMCID: PMC2743026.
      View in: PubMed   Mentions: 32     Fields:    
    118. Reported Effects of Masculine Ideals on Gay Men. Psychol Men Masc. 2009 Jan; 10(1):73-87. Sánchez FJ, Greenberg ST, Liu WM, Vilain E. PMID: 20628534; PMCID: PMC2902177.
      View in: PubMed   Mentions: 27  
    119. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr; 154(4):551-6. 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. PMID: 19058814.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    120. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry. 2009 Jan 01; 65(1):93-6. Hare L, Bernard P, Sánchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR. PMID: 18962445; PMCID: PMC3402034.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    121. Human SRY inhibits beta-catenin-mediated transcription. Int J Biochem Cell Biol. 2008; 40(12):2889-900. Bernard P, Sim H, Knower K, Vilain E, Harley V. PMID: 18598779; PMCID: PMC2586953.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    122. Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation. Nat Genet. 2008 Jul; 40(7):904-8. 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. PMID: 18568024.
      View in: PubMed   Mentions: 244     Fields:    Translation:HumansCells
    123. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 2008 May; 179(1):419-27. Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. PMID: 18458101; PMCID: PMC2390620.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    124. Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biol Cell. 2008 Mar; 100(3):167-77. Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E. PMID: 17976036; PMCID: PMC2670395.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansAnimalsCells
    125. Prolactin expression in the sheep brain. Neuroendocrinology. 2008; 87(4):206-15. Roselli CE, Bocklandt S, Stadelman HL, Wadsworth T, Vilain E, Stormshak F. PMID: 18223310.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    126. Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. J Endocrinol. 2007 Jul; 194(1):153-60. Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E. PMID: 17592029.
      View in: PubMed   Mentions: 15     Fields:    Translation:AnimalsCells
    127. 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. Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF. PMID: 17349529.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    128. We used to call them hermaphrodites. Genet Med. 2007 Feb; 9(2):65-6. Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. PMID: 17304046.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    129. Sex differences in brain and behavior: hormones versus genes. Adv Genet. 2007; 59:245-66. Bocklandt S, Vilain E. PMID: 17888801.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimals
    130. Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Hum Genet. 2007 Feb; 120(6):847-56. Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. PMID: 17021862.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    131. [A neuropeptide at the origin of testicular aging?]. Med Sci (Paris). 2006 Oct; 22(10):809-11. Lacombe A, Lelièvre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. PMID: 17026927.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals
    132. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul; 79(1):113-9. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. PMID: 16773570; PMCID: PMC1474115.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    133. 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. Nikolova G, Vilain E. PMID: 16932288.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    134. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Mol Genet Metab. 2006 May; 88(1):66-70. Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. PMID: 16504561.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    135. 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. Lacombe A, Lelievre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. PMID: 16505386; PMCID: PMC1450155.
      View in: PubMed   Mentions: 20     Fields:    Translation:AnimalsCells
    136. Direct regulation of adult brain function by the male-specific factor SRY. Curr Biol. 2006 Feb 21; 16(4):415-20. Dewing P, Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E. PMID: 16488877.
      View in: PubMed   Mentions: 143     Fields:    Translation:AnimalsCells
    137. 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. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. PMID: 16459121.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    138. Extreme skewing of X chromosome inactivation in mothers of homosexual men. Hum Genet. 2006 Feb; 118(6):691-4. Bocklandt S, Horvath S, Vilain E, Hamer DH. PMID: 16369763.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    139. Familial transmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2006 Sep; 17(5):498-501. Jack GS, Nikolova G, Vilain E, Raz S, Rodríguez LV. PMID: 16365693.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansPHPublic Health
    140. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8. Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. PMID: 14994240.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    141. Dead chromosome walking. Pediatr Res. 2004 Apr; 55(4):539-40. Vilain E. PMID: 14999104.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    142. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Res Mol Brain Res. 2003 Oct 21; 118(1-2):82-90. Dewing P, Shi T, Horvath S, Vilain E. PMID: 14559357.
      View in: PubMed   Mentions: 105     Fields:    Translation:Animals
    143. 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. Jordan BK, Shen JH, Olaso R, Ingraham HA, Vilain E. PMID: 12949260; PMCID: PMC196894.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansCells
    144. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Hum Mol Genet. 2003 Jul 15; 12(14):1755-65. Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E. PMID: 12837698.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansCells
    145. 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. Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E. PMID: 12107262.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    146. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002; 511:1-13; discussion 13-4. Jordan BK, Vilain E. PMID: 12575752.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    147. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Found Symp. 2002; 244:43-53; discussion 53-6, 79-85, 253-7. Vilain E. PMID: 11990797.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
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