Eric Vilain - Publications

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

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Year Citation  Score
2019 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. Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. Frontiers in Oncology. 9: 1507. PMID 32010615 DOI: 10.3389/Fonc.2019.01507  0.3
2019 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, ... ... Vilain E, et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics. PMID 31883643 DOI: 10.1016/J.Ajhg.2019.12.004  0.418
2019 Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley VR. Sex-specific neuroprotection by inhibition of the Y-chromosome gene, , in experimental Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 31371505 DOI: 10.1073/Pnas.1900406116  0.355
2019 Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, et al. Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. The Journal of Clinical Endocrinology and Metabolism. PMID 31287541 DOI: 10.1210/Jc.2019-00984  0.336
2019 Byers ES, Mustanski B, Semenyna S, Suschinsky KD, Vilain E. The Role of Sex Research Organizations in Eliminating Sexual Harassment. Archives of Sexual Behavior. PMID 31263992 DOI: 10.1007/S10508-019-01505-Z  0.325
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  0.346
2019 Bramble MS, Vashist N, Vilain E. Sex steroid hormone modulation of neural stem cells: a critical review. Biology of Sex Differences. 10: 28. PMID 31146782 DOI: 10.1186/S13293-019-0242-X  0.414
2019 Foreman M, Vilain E, Harley V. Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signalling". The Journal of Clinical Endocrinology and Metabolism. PMID 30942840 DOI: 10.1210/Jc.2019-00701  0.366
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  0.307
2019 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, ... ... Vilain E, et al. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation. PMID 30817854 DOI: 10.1002/Humu.23731  0.326
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  0.305
2019 Speiser P, Chawla R, Chen M, Delot E, Thomas A, Finlayson C, Hollander A, Lowell M, Rutter M, Sandberg D, Shimy K, Vilain E. SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN) Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Sat-Lb050  0.306
2018 Mullegama SV, Klein SD, Signer RH, Vilain E, Martinez-Agosto JA. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Molecular Genetics & Genomic Medicine. PMID 30447054 DOI: 10.1002/Mgg3.501  0.411
2018 Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR. A genetic link between gender dysphoria and sex hormone signalling. The Journal of Clinical Endocrinology and Metabolism. PMID 30247609 DOI: 10.1210/Jc.2018-01105  0.364
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  0.435
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  0.718
2017 Adam MP, Vilain E. Emerging issues in disorders/differences of sex development (DSD). American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28577349 DOI: 10.1002/Ajmg.C.31564  0.365
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  0.464
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  0.319
2017 Bramble MS, Lipson A, Vashist N, Vilain E. Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development. Journal of Neuroscience Research. 95: 65-74. PMID 27841933 DOI: 10.1002/Jnr.23832  0.471
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  0.807
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  0.438
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  0.327
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  0.757
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  0.768
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  0.319
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  0.306
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  0.303
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  0.411
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  0.352
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  0.655
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  0.674
2015 Bermon S, Vilain E, Fénichel P, Ritzén M. Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. The Journal of Clinical Endocrinology and Metabolism. 100: 828-30. PMID 25587809 DOI: 10.1210/Jc.2014-3603  0.301
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  0.733
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  0.787
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  0.319
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  0.726
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  0.336
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  0.785
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  0.807
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  0.711
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  0.755
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  0.486
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  0.357
2014 Lee PA, Wisniewski AB, Baskin L, Vogiatzi MG, Vilain E, Rosenthal SM, Houk C. Advances in diagnosis and care of persons with DSD over the last decade International Journal of Pediatric Endocrinology. 2014: 19. DOI: 10.1186/1687-9856-2014-19  0.321
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  0.775
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  0.401
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  0.329
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  0.355
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  0.313
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  0.706
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  0.652
2012 Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. Increased Cortical Thickness in Male-to-Female Transsexualism. Journal of Behavioral and Brain Science. 2: 357-362. PMID 23724358 DOI: 10.4236/Jbbs.2012.23040  0.384
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  0.776
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  0.681
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  0.34
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  0.308
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  0.742
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  0.395
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  0.745
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  0.751
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  0.793
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  0.488
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  0.383
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  0.328
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  0.31
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  0.78
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  0.41
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  0.393
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  0.303
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  0.788
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  0.323
2008 Arboleda VA, Twiss CO, Vilain E, Rodriguez LV. In Vitro Effects Of A Single Nucleotide Polymorphism On Expression Of Extracellular Matrix Protein Laminin Gamma-1 (Lamc1) The Journal of Urology. 179: 445-445. DOI: 10.1016/S0022-5347(08)61305-1  0.628
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  0.451
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  0.338
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  0.353
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  0.498
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  0.791
2007 Nikolova G, Twiss CO, Lee H, Stanley N, Sinsheimer J, Vilain E, Rodriguez LV. 1280: Increased Susceptibility to Genitovaginal Prolapse Associated with a Polymorphism in the Promoter of the Extracellular Matrix Protein LAMC1 Journal of Urology. 177: 421-422. DOI: 10.1016/S0022-5347(18)31494-0  0.748
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  0.818
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  0.39
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  0.307
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  0.356
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  0.785
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  0.362
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  0.389
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  0.775
2006 Vilain E. Genetics of intersexuality Journal of Gay and Lesbian Psychotherapy. 10: 9-26. DOI: 10.1300/J236v10n02_02  0.314
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  0.465
2005 Jack GS, Bukkapatnam R, Nicolav G, Vilain E, Rodriguez LV. 859: Autosomal Dominant Tranmission of Genitovaginal Prolapse The Journal of Urology. 173: 233-234. DOI: 10.1016/S0022-5347(18)35028-6  0.309
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  0.412
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 DOI: 10.1590/S0100-879X2004000100020  0.448
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  0.785
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  0.393
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  0.769
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 DOI: 10.1007/978-1-4615-0621-8_1  0.434
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  0.791
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  0.442
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  0.332
2002 Vilain E. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Foundation Symposium. 244: 43-53; discussion 53. PMID 11990797 DOI: 10.1002/0470868732.Ch5  0.488
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  0.8
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  0.378
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  0.774
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 DOI: 10.1210/Jcem.84.12.6186  0.334
1999 Vilain E, Quigley EC, Aisenberg J, Zhang Y, Freidenberg G, Huang B, McCabe ERB. New syndromic association of male pseudohermaphroditism with female external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s) Genetics in Medicine. 1: 64-64. DOI: 10.1097/00125817-199901000-00092  0.417
1998 Vilain E. CYPs, SNPs, and molecular diagnosis in the postgenomic era Clinical Chemistry. 44: 2403-2404. PMID 9836703 DOI: 10.1093/Clinchem/44.12.2403  0.31
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  0.52
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  0.304
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  0.323
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 DOI: 10.1073/Pnas.93.16.8590  0.596
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  0.582
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  0.564
1995 Barbaux S, Vilain E, McElreavey K, Fellous M. A view on sex determination in mammals Medecine/Sciences. 11: 529-536.  0.365
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 DOI: 10.1111/J.1365-2265.1994.Tb02506.X  0.439
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  0.559
1994 Pierga JY, Giacchetti S, Vilain E, Extra JM, Brice P, Espie M, Maragi JA, Fellous M, Marty M. Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature. Gynecologic Oncology. 55: 459-64. PMID 7835789 DOI: 10.1006/Gyno.1994.1323  0.514
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 DOI: 10.1073/Pnas.90.8.3368  0.621
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  0.586
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'Acadã©Mie Des Sciences. Sã©Rie Iii, Sciences De La Vie. 316: 375-83. PMID 8402263  0.538
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  0.585
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  0.456
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  0.374
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  0.588
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  0.57
1992 Vilain E, McElreavey K, Richaud F, Fellous M. [Isolation of the sex-determining gene in men]. Pathologie-Biologie. 40: 15-7. PMID 1570176  0.499
1992 Vilain E, Elreavey KM, Richaud F, Fellous M. [Sex genetics]. Presse Mã©Dicale (Paris, France : 1983). 21: 852-6. PMID 1535151  0.6
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 DOI: 10.1073/Pnas.89.22.11016  0.446
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  0.576
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  0.573
1992 Amit T, Ish-Shalom S, Glaser B, Youdim MBH, Hochberg Z, Giustina A, Bussi AR, Licini M, Pizzocolo G, Schettino M, Wehrenberg WB, Menis ED, Rin GD, Roiter I, Legovini P, ... ... Vilain E, et al. Subject Index, Vol. 37, 1992 Hormone Research in Paediatrics. 37: 247-248. DOI: 10.1159/000182322  0.42
1992 Amit T, Ish-Shalom S, Glaser B, Youdim MBH, Hochberg Z, Giustina A, Bussi AR, Licini M, Pizzocolo G, Schettino M, Wehrenberg WB, Menis ED, Rin GD, Roiter I, Legovini P, ... ... Vilain E, et al. Contents, Vol. 37, 1992 Hormone Research in Paediatrics. 37. DOI: 10.1159/000182312  0.418
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  0.446
Low-probability matches (unlikely to be authored by this person)
1995 Barbaux S, Vilain E, Mcelreavey K, Fellous M. Le point sur le déterminisme du sexe chez les mammifères M S-Medecine Sciences. 11: 529-536. DOI: 10.4267/10608/2242  0.3
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  0.299
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  0.298
2020 Mustanski B, Vilain E, Dworkin SL, Suschinsky KD, Zucker KJ. COVID-19 and the International Academy of Sex Research: We Will Be Back. Archives of Sexual Behavior. PMID 32399914 DOI: 10.1007/S10508-020-01735-6  0.297
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  0.297
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  0.295
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  0.293
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  0.293
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  0.289
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  0.288
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  0.286
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  0.285
2022 Bhattacharya S, Amodei R, Vilain E, Roselli CE. Identification of differential hypothalamic DNA methylation and gene expression associated with sexual partner preferences in rams. Plos One. 17: e0263319. PMID 35552544 DOI: 10.1371/journal.pone.0263319  0.282
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  0.282
2024 Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E. Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development. Biology of Sex Differences. 15: 24. PMID 38520033 DOI: 10.1186/s13293-024-00599-y  0.279
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  0.279
2014 Grody WW, Vilain E, Nelson SF. Interpreting whole-genome sequencing. Jama. 312: 296. PMID 25027151 DOI: 10.1001/Jama.2014.6602  0.279
2016 Mulatinho M, Tenney J, Vilain E, Quintero-Rivera F. Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome Cancer Genetics and Cytogenetics. 209: 244-245. DOI: 10.1016/J.Cancergen.2016.05.050  0.278
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  0.278
2009 Vilain E. Disorders of Sex Development: Of Mice and Men.Eric Vilain, M.D., Ph.D. Biology of Reproduction. 81: 121-121. DOI: 10.1093/Biolreprod/81.S1.121  0.274
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.  0.274
2004 Vilain E. Dead chromosome walking. Pediatric Research. 55: 539-40. PMID 14999104 DOI: 10.1203/01.Pdr.0000123762.03212.B1  0.272
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  0.272
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  0.272
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  0.268
1992 Vilain E, McElreavey K, Herskowitz I, Fellous M. La détermination du sexe : faits et nouveaux concepts MéDecine/Sciences. 8: I. DOI: 10.4267/10608/3280  0.261
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  0.259
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.  0.259
2016 Bailey JM, Vasey PL, Diamond LM, Breedlove SM, Vilain E, Epprecht M. Sexual Orientation, Controversy, and Science. Psychological Science in the Public Interest : a Journal of the American Psychological Society. 17: 45-101. PMID 27113562 DOI: 10.1177/1529100616637616  0.259
2003 Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201] Molecular Genetics and Metabolism. 78: 82. DOI: 10.1016/S1096-7192(02)00202-0  0.257
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  0.252
2017 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, et al. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28933790 DOI: 10.1038/Gim.2017.146  0.252
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  0.251
2016 Martínez-Patiño MJ, Vilain E, Bueno-Guerra N. The unfinished race: 30 years of gender verification in sport. Lancet (London, England). 388: 541-3. PMID 27511770 DOI: 10.1016/S0140-6736(16)30963-1  0.246
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  0.242
2021 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, ... ... Vilain E, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics. PMID 33513338 DOI: 10.1016/j.ajhg.2021.01.007  0.237
2004 Vilain E, Shen J, Olaso R, Ingraham HA, Jordan BK. 128 UPREGULATION OF WNT4 DISRUPTS TESTICULAR VASCULOGENESIS AND INHIBITS TESTOSTERONE SYNTHESIS. Journal of Investigative Medicine. 52: S101.3-S101. DOI: 10.1136/Jim-52-Suppl1-128  0.237
2019 Sandberg DE, Gardner M, Kopec K, Urbanski M, Callens N, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Timmermans S, Siminoff LA. Development of a decision support tool in pediatric Differences/Disorders of Sex Development. Seminars in Pediatric Surgery. 28: 150838. PMID 31668291 DOI: 10.1016/J.Sempedsurg.2019.150838  0.237
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  0.237
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?]. Mã©Decine Sciences : M/S. 22: 809-11. PMID 17026927 DOI: 10.1051/Medsci/20062210809  0.23
2021 Délot EC, Vilain E. Towards improved genetic diagnosis of human differences of sex development. Nature Reviews. Genetics. PMID 34083777 DOI: 10.1038/s41576-021-00365-5  0.23
2015 Ritzén M, Ljungqvist A, Budgett R, Garnier PY, Bermon S, Lindén-Hirschberg A, Vilain E, Martínez-Patiño MJ. The regulations about eligibility for women with hyperandrogenism to compete in women's category are well founded. A rebuttal to the conclusions by Healy et al. Clinical Endocrinology. 82: 307-8. PMID 24954211 DOI: 10.1111/Cen.12531  0.218
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  0.216
2019 Vilain E, Martinez-Patiño MJ. Science's place in shaping gender-based policies in athletics. Lancet (London, England). PMID 30952464 DOI: 10.1016/S0140-6736(19)30473-8  0.215
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  0.215
2024 Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, ... ... Vilain E, et al. variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders. Medrxiv : the Preprint Server For Health Sciences. PMID 38645094 DOI: 10.1101/2024.04.07.24305438  0.215
2007 Lacombe A, Lelievre V, Roselli CE, Müller J, Waschek JA, Vilain E. Rôle du peptide vasoactif intestinal (VIP) dans la stéroïdogenèse et le vieillissement testiculaire Andrologie. 17: 123-128. DOI: 10.1007/Bf03041165  0.214
2020 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. Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States. International Journal of Neonatal Screening. 6. PMID 32832708 DOI: 10.3390/Ijns6020037  0.213
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  0.21
2015 Caburet S, Vilain É. [STAG3 in premature ovarian failure]. MéDecine Sciences : M/S. 31: 129-31. PMID 25744256 DOI: 10.1051/Medsci/20153102005  0.206
2016 Vilain E. Disorders/differences of sex development: A world of uncertainty Jcrpe Journal of Clinical Research in Pediatric Endocrinology. 8: 3.  0.202
2000 Cederbaum S, Vilain E. Defects in energy metabolism: Coming of age, slowly Journal of Pediatrics. 136: 147-148. PMID 10657817 DOI: 10.1016/S0022-3476(00)70093-X  0.2
2018 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, ... ... Vilain E, et al. Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors. The Journal of Infectious Diseases. PMID 30107445 DOI: 10.1093/Infdis/Jiy453  0.197
2016 Nelson MD, Szczepaniak LS, Wei J, Szczepaniak E, Sánchez FJ, Vilain E, Stern JH, Bergman RN, Bairey Merz CN, Clegg DJ. Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective? Transgender Health. 1: 165-171. PMID 29159307 DOI: 10.1089/trgh.2016.0016  0.196
2012 Vilain EJN. Genetics of Sexual Development and Differentiation Handbook of Sexual and Gender Identity Disorders. 325-353. DOI: 10.1002/9781118269978.ch11  0.193
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  0.187
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 DOI: 10.1016/S0022-3476(99)70278-7  0.184
2020 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, ... ... Vilain E, et al. Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances. 6. PMID 33268356 DOI: 10.1126/sciadv.abc9207  0.181
2016 Vilain E. Use of next generation sequencing in clinical practice: The example of disorders/differences of sex development Jcrpe Journal of Clinical Research in Pediatric Endocrinology. 8: 5.  0.179
2013 Sánchez FJ, Vilain E. Transgender Identities: Research and Controversies Handbook of Psychology and Sexual Orientation. DOI: 10.1093/acprof:oso/9780199765218.003.0004  0.176
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.  0.173
2008 Tilbrook AJ, Rivalland EAT, Turner AI, Lambert GW, Clarke IJ, Wood CE, Binderup T, Knigge U, Mogensen AM, Hansen CP, Kjaer A, Stelter L, Amthauer H, Rexin A, Pinkernelle J, ... ... Vilain E, et al. Subject Index Vol. 87, 2008 Neuroendocrinology. 87: 248-248. DOI: 10.1159/000136217  0.172
2021 Ospina-Betancurt J, Vilain E, Martinez-Patiño MJ. The End of Compulsory Gender Verification: Is It Progress for Inclusion of Women in Sports? Archives of Sexual Behavior. 50: 2799-2807. PMID 34494166 DOI: 10.1007/s10508-021-02073-x  0.172
2008 Tilbrook AJ, Rivalland EAT, Turner AI, Lambert GW, Clarke IJ, Wood CE, Binderup T, Knigge U, Mogensen AM, Hansen CP, Kjaer A, Stelter L, Amthauer H, Rexin A, Pinkernelle J, ... ... Vilain E, et al. Contents Vol. 87, 2008 Neuroendocrinology. 87. DOI: 10.1159/000136218  0.171
2022 Kocher K, Bhattacharya S, Bramble MS, Okitundu-Luwa D, Ngoyi DM, Tshala-Katumbay D, Vilain E. DNA methylation patterns associated with konzo in Sub-Saharan Africa. Clinical Epigenetics. 14: 179. PMID 36536449 DOI: 10.1186/s13148-022-01372-x  0.161
2023 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, ... ... Vilain E, et al. Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis. Clinical Genetics. PMID 37194472 DOI: 10.1111/cge.14360  0.156
2024 Cui Y, Ye W, Li JS, Li JJ, Vilain E, Sallam T, Li W. A genome-wide spectrum of tandem repeat expansions in 338,963 humans. Cell. PMID 38582080 DOI: 10.1016/j.cell.2024.03.004  0.153
2016 Lipson A, Vilain E. Genetic defects affecting adrenal development Jcrpe Journal of Clinical Research in Pediatric Endocrinology. 8: 11.  0.146
2020 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, ... ... Vilain E, et al. Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth. Transgender Health. 5: 246-257. PMID 33376803 DOI: 10.1089/trgh.2020.0006  0.142
2021 Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Vilain E, Shashi V. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Molecular Genetics & Genomic Medicine. e1665. PMID 33955715 DOI: 10.1002/mgg3.1665  0.135
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  0.129
2021 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, ... ... Vilain E, et al. The gut microbiome in konzo. Nature Communications. 12: 5371. PMID 34508085 DOI: 10.1038/s41467-021-25694-1  0.126
2021 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, ... ... Vilain E, et al. Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo. European Journal of Medical Genetics. 64: 104267. PMID 34161860 DOI: 10.1016/j.ejmg.2021.104267  0.122
2021 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, et al. Transgender Youth Executive Functioning: Relationships with Anxiety Symptoms, Autism Spectrum Disorder, and Gender-Affirming Medical Treatment Status. Child Psychiatry and Human Development. PMID 34146208 DOI: 10.1007/s10578-021-01195-6  0.12
2024 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, ... ... Vilain E, et al. Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement. Hormone Research in Paediatrics. PMID 38310850 DOI: 10.1159/000536296  0.118
2021 Bhattacharya S, Barseghyan H, Délot EC, Vilain E. nanotatoR: a tool for enhanced annotation of genomic structural variants. Bmc Genomics. 22: 10. PMID 33407088 DOI: 10.1186/s12864-020-07182-w  0.112
2009 Estrella C, Rocks N, Paulissen G, Quesada-Calvo F, Noël A, Vilain E, Lassalle P, Tillie-Leblond I, Cataldo D, Gosset P. Role of A disintegrin and metalloprotease-12 in neutrophil recruitment induced by airway epithelium. American Journal of Respiratory Cell and Molecular Biology. 41: 449-58. PMID 19213876 DOI: 10.1165/rcmb.2008-0124OC  0.108
2022 Sandberg DE, Vilain E. Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care. The Lancet. Diabetes & Endocrinology. PMID 35461574 DOI: 10.1016/S2213-8587(22)00115-2  0.104
2021 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, et al. In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents. Journal of Clinical Child and Adolescent Psychology : the Official Journal For the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 1-18. PMID 34121545 DOI: 10.1080/15374416.2021.1916940  0.103
2021 Margalit S, Abramson Y, Sharim H, Manber Z, Bhattacharya S, Chen YW, Vilain E, Barseghyan H, Elkon R, Sharan R, Ebenstein Y. Long reads capture simultaneous enhancer-promoter methylation status for cell-type deconvolution. Bioinformatics (Oxford, England). 37: i327-i333. PMID 34252972 DOI: 10.1093/bioinformatics/btab306  0.1
2023 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. "Development and Implementation of Novel Chatbot-based Genomic Research Consent". Biorxiv : the Preprint Server For Biology. PMID 36747692 DOI: 10.1101/2023.01.23.525221  0.1
2020 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. Motor Control And Cognition Deficits Associated With Protein Carbamoylation In Food (Cassava) Cyanogenic Poisoning: Neurodegeneration And Genomic Perspectives. Food and Chemical Toxicology : An International Journal Published For the British Industrial Biological Research Association. 111917. PMID 33296712 DOI: 10.1016/j.fct.2020.111917  0.1
2023 LoTempio J, Delot E, Vilain E. Benchmarking long-read genome sequence alignment tools for human genomics applications. Peerj. 11: e16515. PMID 38130927 DOI: 10.7717/peerj.16515  0.095
2021 DeBiasi RL, Harahsheh AS, Srinivasalu H, Krishnan A, Sharron MP, Parikh K, Smith K, Bell M, Michael D, Delaney M, Campos J, Vilain E, LoTiempo J, Kline JN, Ronis T, et al. Multisystem Inflammatory Syndrome of Children: Sub-phenotypes, Risk Factors, Biomarkers, Cytokine Profiles and Viral Sequencing. The Journal of Pediatrics. PMID 34181987 DOI: 10.1016/j.jpeds.2021.06.002  0.094
2023 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, et al. Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion. The Journal of Pathology. PMID 37203791 DOI: 10.1002/path.6085  0.091
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  0.091
2023 Kocher K, Bhattacharya S, Niforatos-Andescavage N, Almalvez M, Henderson D, Vilain E, Limperopoulos C, Délot EC. Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic. Bmc Medical Genomics. 16: 268. PMID 37899449 DOI: 10.1186/s12920-023-01707-4  0.088
2023 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, ... ... Vilain E, et al. The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group. The Journal of Sexual Medicine. 18: 1122-1129. PMID 37057468 DOI: 10.1016/j.jsxm.2021.03.079  0.077
2021 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, ... ... Vilain E, et al. The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group. The Journal of Sexual Medicine. PMID 34030966 DOI: 10.1016/j.jsxm.2021.03.079  0.077
2014 Pichavant M, Remy G, Bekaert S, Le Rouzic O, Kervoaze G, Vilain E, Just N, Tillie-Leblond I, Trottein F, Cataldo D, Gosset P. Oxidative stress-mediated iNKT-cell activation is involved in COPD pathogenesis Mucosal Immunology. 7: 568-578. PMID 24172846 DOI: 10.1038/mi.2013.75  0.076
2023 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. Using a chat-based informed consent tool in large-scale genomic research. Journal of the American Medical Informatics Association : Jamia. PMID 37665746 DOI: 10.1093/jamia/ocad181  0.068
2016 Le Rouzic O, Koné B, Kluza J, Marchetti P, Hennegrave F, Olivier C, Kervoaze G, Vilain E, Mordacq C, Just N, Perez T, Bautin N, Pichavant M, Gosset P. Cigarette smoke alters the ability of human dendritic cells to promote anti-Streptococcus pneumoniae Th17 response. Respiratory Research. 17: 94. PMID 27460220 DOI: 10.1186/S12931-016-0408-6  0.063
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  0.057
2010 Torres D, Dieudonné A, Ryffel B, Vilain E, Si-Tahar M, Pichavant M, Lassalle P, Trottein F, Gosset P. Double-stranded RNA exacerbates pulmonary allergic reaction through TLR3: implication of airway epithelium and dendritic cells. Journal of Immunology (Baltimore, Md. : 1950). 185: 451-9. PMID 20505141 DOI: 10.4049/Jimmunol.0902833  0.05
2021 Martínez-Patiño MJ, Blas Lopez FJ, Dubois M, Vilain E, Fuentes-García JP. Effects of COVID-19 Home Confinement on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes. International Journal of Environmental Research and Public Health. 18. PMID 34886503 DOI: 10.3390/ijerph182312780  0.043
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.  0.041
1981 Vilain E, Brison J, Loffet A, Zanen J. Solid-phase peptide synthesis of human β-endorphin Archives Internationales De Physiologie Et De Biochimie. 89.  0.035
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  0.021
2014 Luce FP, Reboh S, Vilain E, Madeira F, Barnes JP, Rochat N, Salvetat T, Tauzin A, Milesi F, Mazen F, Deguet C. Influence of implantation temperature on the formation of hydrogen-related defects in InP Proceedings of the International Conference On Ion Implantation Technology. DOI: 10.1109/IIT.2014.6939972  0.02
1984 Maquestiau A, Flammang‐Barbieux M, Vilain E. Synthèse et Réactions de Déplacement Nucléophile de Dérivés Nitres et Halogènes du [3, 2‐b] Pyridino [4, 5] Benzo‐1, 3a, 6, 6a‐Tetraazapentalene Bulletin Des SociéTéS Chimiques Belges. 93: 973-982. DOI: 10.1002/bscb.19840931107  0.015
1986 Maquestiau A, Flammang‐Barbieux M, Vilain E. Nitration de Pyridinobenzotetraazapentalenes Bulletin Des SociéTéS Chimiques Belges. 95: 1117-1122. DOI: 10.1002/bscb.19860951211  0.011
1986 Maquestiau A, Biemans R, Flammang‐Barbieux M, Vilain E. Synthèse de Pyridinobenzotetraazapentalenes Bulletin Des SociéTéS Chimiques Belges. 95: 1107-1116. DOI: 10.1002/bscb.19860951210  0.01
1983 Maquestiau A, Flammang‐Barbieux M, Vilain E, Pfister‐Guillouzo G. Synthese et Reactivite du [3, 2‐b] Pyridino [4, 5] Benzo‐1, 3a, 6, 6a‐Tetraazapentalene Bulletin Des SociéTéS Chimiques Belges. 92: 67-75. DOI: 10.1002/bscb.19830920110  0.01
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