Eric Vilain

Eric Vilain

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Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signaling".

J Clin Endocrinol Metab 2019 Oct;104(10):4420

Hudson Institute of Medical Research, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1210/jc.2019-00701DOI Listing
October 2019

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.

Horm Res Paediatr 2018 15;90(6):368-380. Epub 2019 Feb 15.

Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1159/000496114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512800PMC
August 2019

Sex-specific neuroprotection by inhibition of the Y-chromosome gene, , in experimental Parkinson's disease.

Proc Natl Acad Sci U S A 2019 Aug 1;116(33):16577-16582. Epub 2019 Aug 1.

Brain and Gender Laboratory, Hudson Institute of Medical Research, Clayton, VIC 3168, Australia;

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http://dx.doi.org/10.1073/pnas.1900406116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697880PMC
August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

The Role of Sex Research Organizations in Eliminating Sexual Harassment.

Arch Sex Behav 2019 Jul 1. Epub 2019 Jul 1.

Center for Genetic Medicine Research, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10508-019-01505-zDOI Listing
July 2019

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

J Clin Endocrinol Metab 2019 Jul 9. Epub 2019 Jul 9.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1210/jc.2019-00984DOI Listing
July 2019

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.

Sociol Health Illn 2019 Jun 21. Epub 2019 Jun 21.

Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1111/1467-9566.12974DOI Listing
June 2019

Sex steroid hormone modulation of neural stem cells: a critical review.

Biol Sex Differ 2019 05 30;10(1):28. Epub 2019 May 30.

Center for Genetic Medicine Research, Children's Research Institute, Children's National Medical Center, Washington, D.C., USA.

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http://dx.doi.org/10.1186/s13293-019-0242-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543604PMC
May 2019

Long-read single-molecule maps of the functional methylome.

Genome Res 2019 04 7;29(4):646-656. Epub 2019 Mar 7.

School of Chemistry, Center for Nanoscience and Nanotechnology, Center for Light-Matter Interaction, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Ramat Aviv 6997801, Israel.

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http://dx.doi.org/10.1101/gr.240739.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442387PMC
April 2019

Science's place in shaping gender-based policies in athletics.

Lancet 2019 Apr 2;393(10180):1504. Epub 2019 Apr 2.

Faculty of Education and Sport Sciences, University of Vigo, Vigo, Spain.

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http://dx.doi.org/10.1016/S0140-6736(19)30473-8DOI Listing
April 2019

Translating genomics to the clinical diagnosis of disorders/differences of sex development.

Curr Top Dev Biol 2019 20;134:317-375. Epub 2019 Mar 20.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, United States; Department of Genomics and Precision Medicine, The George Washington University, Washington, DC, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00702153193000
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http://dx.doi.org/10.1016/bs.ctdb.2019.01.005DOI Listing
March 2019

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling.

J Clin Endocrinol Metab 2019 Feb;104(2):390-396

Hudson Institute of Research, Melbourne, Victoria, Australia.

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https://academic.oup.com/jcem/article/104/2/390/5104458
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http://dx.doi.org/10.1210/jc.2018-01105DOI Listing
February 2019

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 16;7(2):e00501. Epub 2018 Nov 16.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/mgg3.501
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http://dx.doi.org/10.1002/mgg3.501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393687PMC
February 2019

New technologies to uncover the molecular basis of disorders of sex development.

Mol Cell Endocrinol 2018 06 13;468:60-69. Epub 2018 Apr 13.

Center for Genetic Medicine Research, Children's National Health System, Children's Research Institute, Washington, DC, 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2018.04.003DOI Listing
June 2018

Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Endocrinol Metab Clin North Am 2017 06 28;46(2):519-537. Epub 2017 Mar 28.

Departments of Human Genetics, Urology, and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 4554B, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08898529173001
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http://dx.doi.org/10.1016/j.ecl.2017.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714504PMC
June 2017

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Am J Med Genet C Semin Med Genet 2017 06 15;175(2):253-259. Epub 2017 May 15.

Department of Pediatrics, Division of Genetics and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.c.31559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489227PMC
June 2017

Disorders of sex development (DSD): Clinical service delivery in the United States.

Am J Med Genet C Semin Med Genet 2017 06 30;175(2):268-278. Epub 2017 May 30.

Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.c.31558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479330PMC
June 2017

Emerging issues in disorders/differences of sex development (DSD).

Am J Med Genet C Semin Med Genet 2017 06 3;175(2):249-252. Epub 2017 Jun 3.

Departments of Human Genetics, Urology, and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.c.31564DOI Listing
June 2017

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;95(1-2):65-74

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/jnr.23832DOI Listing
January 2017

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. Epub 2016 Nov 15.

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, 90095, CA, USA.

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http://dx.doi.org/10.1038/srep36916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109279PMC
November 2016

Sexual Orientation, Controversy, and Science.

Psychol Sci Public Interest 2016 Sep;17(2):45-101

Department of History, Queen's University Department of Global Development Studies, Queen's University.

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http://dx.doi.org/10.1177/1529100616637616DOI Listing
September 2016

Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective?

Transgend Health 2016 1;1(1):165-171. Epub 2016 Aug 1.

Diabetes and Obesity Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.

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http://dx.doi.org/10.1089/trgh.2016.0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685281PMC
August 2016

The unfinished race: 30 years of gender verification in sport.

Lancet 2016 Aug;388(10044):541-3

Department of Psychology and Clinical Psychobiology, University of Barcelona, Barcelona, Cataluña 08025, Spain; Department of Developmental Psychology, Max Planck Institute of Evolutionary Anthropology, Leipzig, Saxony, Germany. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(16)30963-1DOI Listing
August 2016

WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells.

Endocr Relat Cancer 2016 07 20;23(7):571-85. Epub 2016 Jun 20.

Centre de Recherche en Cancérologie de LyonUMR INSERM 1052-CNRS 5286, Centre Léon Bérard, Université Claude Bernard Lyon I, Université de Lyon, Lyon, France

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http://dx.doi.org/10.1530/ERC-15-0528DOI Listing
July 2016

Acceleration of age-associated methylation patterns in HIV-1-infected adults.

PLoS One 2015 25;10(3):e0119201. Epub 2015 Mar 25.

Department of Medicine, Division of Hematology/Oncology, AIDS Institute, University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119201PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373843PMC
February 2016

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Genes Chromosomes Cancer 2016 Feb 6;55(2):131-42. Epub 2015 Nov 6.

Pathology and Laboratory Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA, 90095.

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http://dx.doi.org/10.1002/gcc.22319DOI Listing
February 2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

The importance of having two X chromosomes.

Philos Trans R Soc Lond B Biol Sci 2016 Feb 1;371(1688):20150113. Epub 2016 Feb 1.

Department of Integrative Biology and Physiology, University of California, Los Angeles, Los Angeles, CA, USA Interdepartmental Program for Neuroscience, University of California, Los Angeles, Los Angeles, CA, USA Laboratory of Neuroendocrinology, UCLA Brain Research Institute, Los Angeles, CA, USA.

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http://dx.doi.org/10.1098/rstb.2015.0113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785899PMC
February 2016

The genetics of disorders of sex development in humans.

Sex Dev 2014 31;8(5):262-72. Epub 2014 Jan 31.

Murdoch Children's Research Institute and Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1159/000357956DOI Listing
July 2015

The biological basis of human sexual orientation: is there a role for epigenetics?

Adv Genet 2014 ;86:167-84

Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles (UCLA), Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/B978-0-12-800222-3.00008-5DOI Listing
May 2015

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.

Cell Div 2015 28;10. Epub 2015 Mar 28.

Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, 695 Charles E. Young Drive, Los Angeles, CA 90095 USA ; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, USA ; Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, USA.

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http://dx.doi.org/10.1186/s13008-015-0008-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389716PMC
April 2015

Parental Reports of Stigma Associated with Child's Disorder of Sex Development.

Int J Endocrinol 2015 31;2015:980121. Epub 2015 Mar 31.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109-5456, USA.

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http://dx.doi.org/10.1155/2015/980121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396550PMC
April 2015

Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating.

J Clin Endocrinol Metab 2015 Mar 14;100(3):828-30. Epub 2015 Jan 14.

Laboratoire Motricité Humaine, Education, Sport, Santé (S.B.), Nice Sophia Antipolis University, 06107 Nice, France; Monaco Institute of Sports Medicine and Surgery (S.B.), 98000 Monaco; Department of Human Genetics and Unité Centre National de la Recherche Scientifique Unité Mixte Internationale 3663 "Epigenetics, Data, Politics" (E.V.), David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095-7088; Department of Reproductive Endocrinology (P.F.), and INSERM Unité 1065, Hôpital l'Archet, University Hospital of Nice, 06200 Nice, France; and Department of Women's and Children's Health (M.R.), Karolinska Institutet and University Hospital, SE-141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1210/jc.2014-3603DOI Listing
March 2015

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 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

Departments of Human Genetics (R.M.B., V.A.A., H.B., A.E., S.F.N., E.D., E.V.) and Pathology and Laboratory Medicine (V.A.A., H.L., S.F.N.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095; Department of Pediatrics (M.P.A.), University of Washington, Seattle, Washington 98195; Department of Endocrinology (P.Y.F.), Seattle Children's Hospital, Seattle, Washington 98105; Nassau University Medical Center (R.B.), East Meadow, New York 11554; Departments of Pediatrics and Human Genetics (C.K.), Ann Arbor, Michigan 48109; The Children's Hospital Colorado (S.T.), Aurora, Colorado 80045; Division of Medical Genetics (S.S., L.H.), Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305; TriStar Children's Specialists (R.P.M.), Nashville, Tennessee 37203; Division of Pediatric Genetics and Metabolism (H.J.S., R.Z.), University of Florida, Gainesville, Florida 32610; Cedars-Sinai Medical Center (O.K.G.), Los Angeles, California 90048; Children's Hospital of Los Angeles (L.R.-P.), Los Angeles, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 2015

[STAG3 in premature ovarian failure].

Med Sci (Paris) 2015 Feb 4;31(2):129-31. Epub 2015 Mar 4.

Center for gender-based biology, Department of Human Genetics, David Geffen school of medicine, UCLA Gonda center, room 5506, 695 Charles Young drive south, CA 90095 Los Angeles, États-Unis.

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http://dx.doi.org/10.1051/medsci/20153102005DOI Listing
February 2015

On the validity of popular masculinity rating scales with gay men.

Arch Sex Behav 2014 Nov 6;43(8):1547-57. Epub 2014 Sep 6.

Department of Psychological and Quantitative Foundations, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1007/s10508-014-0363-6DOI Listing
November 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

DSDs: genetics, underlying pathologies and psychosexual differentiation.

Nat Rev Endocrinol 2014 Oct 5;10(10):603-15. Epub 2014 Aug 5.

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA.

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http://www.nature.com/articles/nrendo.2014.130
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http://dx.doi.org/10.1038/nrendo.2014.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441533PMC
October 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome.

Arch Sex Behav 2014 Aug 13;43(6):1043-57. Epub 2014 Jun 13.

Department of Human Genetics, David Geffen School of Medicine at University of California, 695 Charles E. Young Dr. S, Gonda 5506, MC 708822, Los Angeles, CA, 90095-7088, USA.

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http://dx.doi.org/10.1007/s10508-014-0316-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371776PMC
August 2014

Hurdling over sex? Sport, science, and equity.

Arch Sex Behav 2014 Aug;43(6):1035-42

Institute for Society and Genetics, University of California Los Angeles, Los Angeles, CA, USA.

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http://link.springer.com/content/pdf/10.1007%2Fs10508-014-03
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http://link.springer.com/10.1007/s10508-014-0332-0
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http://dx.doi.org/10.1007/s10508-014-0332-0DOI Listing
August 2014

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Genet Med 2014 Jul 9;16(7):510-5. Epub 2014 Jan 9.

Department of Pathology and Laboratory Medicine¸ David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/gim.2013.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4079763PMC
July 2014

Regulation of sex determination in mice by a non-coding genomic region.

Genetics 2014 Jul 2;197(3):885-97. Epub 2014 May 2.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088 Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, California 90095-7088

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http://dx.doi.org/10.1534/genetics.113.160259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096368PMC
July 2014

Interpreting whole-genome sequencing.

JAMA 2014 Jul;312(3):296

Clinical Genomics Center, UCLA School of Medicine, Los Angeles, California.

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http://dx.doi.org/10.1001/jama.2014.6602DOI Listing
July 2014

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

Am J Med Genet A 2014 Jun 8;164A(6):1512-9. Epub 2014 Apr 8.

Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36446DOI Listing
June 2014

The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging.

Biol Sex Differ 2014 13;5. Epub 2014 Jun 13.

Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles (UCLA), Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1186/2042-6410-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074311PMC
June 2014

The new policy on hyperandrogenism in elite female athletes is not about "sex testing".

J Sex Res 2013 15;50(2):112-5. Epub 2013 Jan 15.

Department of Counseling Psychology, The University of Wisconsin-Madison.

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http://dx.doi.org/10.1080/00224499.2012.752429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554857PMC
April 2014

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 23;164A(4):958-65. Epub 2014 Jan 23.

Departments of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.36393
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http://dx.doi.org/10.1002/ajmg.a.36393DOI Listing
April 2014

Mutant cohesin in premature ovarian failure.

N Engl J Med 2014 Mar;370(10):943-949

Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) - both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) - both in Salaman ca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de In vestigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.).

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http://dx.doi.org/10.1056/NEJMoa1309635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068824PMC
March 2014

Translational genetics for diagnosis of human disorders of sex development.

Annu Rev Genomics Hum Genet 2013 15;14:371-92. Epub 2013 Jul 15.

Department of Human Genetics and.

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http://dx.doi.org/10.1146/annurev-genom-091212-153417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447314PMC
December 2013

The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance.

Biol Sex Differ 2013 Aug 8;4(1):15. Epub 2013 Aug 8.

Department of Integrative Biology & Physiology, University of California, Los Angeles, 405 Hilgard Avenue, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1186/2042-6410-4-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751353PMC
August 2013

Elements of morphology: standard terminology for the external genitalia.

Am J Med Genet A 2013 Jun 6;161A(6):1238-63. Epub 2013 May 6.

Department of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440541PMC
June 2013

The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation.

Health Psychol 2013 Jan 1;32(1):52-6. Epub 2012 Oct 1.

Center for Gender-Based Biology, and Department of Human Genetics, UCLA School of Medicine, USA.

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http://dx.doi.org/10.1037/a0029529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031032PMC
January 2013

Membrane β-catenin and adherens junctions in early gonadal patterning.

Dev Dyn 2012 Nov 5;241(11):1782-98. Epub 2012 Oct 5.

Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, CA 90095, USA.

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http://doi.wiley.com/10.1002/dvdy.23870
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677039PMC
November 2012

Increased Cortical Thickness in Male-to-Female Transsexualism.

J Behav Brain Sci 2012 Aug;2(3):357-362

Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA.

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http://dx.doi.org/10.4236/jbbs.2012.23040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665407PMC
August 2012

The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism.

J Neurochem 2012 Jul 8;122(2):260-71. Epub 2012 Jun 8.

Molecular Genetics & Development Division, Prince Henry's Institute of Medical Research, Monash Medical Centre, Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1471-4159.2012.07782.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529967PMC
July 2012

"Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity.

Arch Sex Behav 2012 Feb;41(1):111-9

Department of Human Genetics, Center for Society & Genetics, UCLA School of Medicine, 695 Charles Young Drive S, #5524, Los Angeles, CA 90097-7088, USA.

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February 2012

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. Epub 2011 Jul 6.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90025, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171521PMC
January 2012

Epigenetic predictor of age.

PLoS One 2011 22;6(6):e14821. Epub 2011 Jun 22.

Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3120753PMC
November 2011

Reproductive endocrinology: athletes' bodies, sexed bodies--intersexuality in athletics.

Nat Rev Endocrinol 2011 Nov 29;8(4):198-9. Epub 2011 Nov 29.

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http://dx.doi.org/10.1038/nrendo.2011.213DOI Listing
November 2011

The genetics of ovotesticular disorders of sex development.

Authors:
Eric Vilain

Adv Exp Med Biol 2011 ;707:105-6

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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September 2011

The genetics of sex differences in brain and behavior.

Front Neuroendocrinol 2011 Apr 15;32(2):227-46. Epub 2010 Oct 15.

David Geffen School of Medicine at UCLA, Gonda Center, Room 5506, 695 Charles Young Drive South, Los Angeles, CA 90095-7088, United States.

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http://dx.doi.org/10.1016/j.yfrne.2010.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030621PMC
April 2011

Genes and brain sex differences.

Prog Brain Res 2010 ;186:65-76

Center for Society & Genetics, Center for Gender-Based Biology, & Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/B978-0-444-53630-3.00005-1DOI Listing
April 2011

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

J Clin Invest 2011 Jan 22;121(1):328-41. Epub 2010 Dec 22.

School of Molecular and Biomedical Science and Australian Research Council Special Research Centre for the Molecular Genetics of Development, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1172/JCI42580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007141PMC
January 2011

A practical approach to ambiguous genitalia in the newborn period.

Urol Clin North Am 2010 May;37(2):195-205

Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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May 2010

Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia.

Genesis 2009 Sep;47(9):628-37

Department of Human Genetics, University of California, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/dvg.20532
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September 2009

Regional gray matter variation in male-to-female transsexualism.

Neuroimage 2009 Jul 31;46(4):904-7. Epub 2009 Mar 31.

Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095-7334, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2754583PMC
July 2009

Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men.

Psychol Men Masc 2009 Jul;10(3):237-243

Center for Gender-Based Biology and the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles.

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http://dx.doi.org/10.1037/a0016325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922761PMC
July 2009

Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.

Biol Psychiatry 2009 Jan 28;65(1):93-6. Epub 2008 Oct 28.

Human Molecular Genetics Laboratory, Prince Henry's Institute of Medical Research, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.biopsych.2008.08.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402034PMC
January 2009

Reported Effects of Masculine Ideals on Gay Men.

Psychol Men Masc 2009 Jan;10(1):73-87

Center for Gender-Based Biology and the Department of Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles.

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http://dx.doi.org/10.1037/a0013513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902177PMC
January 2009

Human SRY inhibits beta-catenin-mediated transcription.

Int J Biochem Cell Biol 2008 28;40(12):2889-900. Epub 2008 Jun 28.

Prince Henry's Institute of Medical Research, Human Molecular Genetics Laboratory, Monash Medical Centre, Clayton, Australia.

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http://dx.doi.org/10.1016/j.biocel.2008.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2586953PMC
December 2008

Prolactin expression in the sheep brain.

Neuroendocrinology 2008 28;87(4):206-15. Epub 2008 Jan 28.

Department of Physiology and Pharmacology, Oregon Health and Science University, Portland, Oreg. 97201-3098, USA.

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July 2008

Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation.

Nat Genet 2008 Jul 22;40(7):904-8. Epub 2008 Jun 22.

Institute for Cancer Genetics, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1038/ng.174DOI Listing
July 2008

The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice.

Genetics 2008 May 5;179(1):419-27. Epub 2008 May 5.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1534/genetics.108.088088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2390620PMC
May 2008

Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane.

Biol Cell 2008 Mar;100(3):167-77

Human Molecular Genetics laboratory, Prince Henry's Institute of Medical Research, Monash Medical Centre, PO Box 5152, Clayton 3168, VIC, Australia.

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http://dx.doi.org/10.1042/BC20070072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670395PMC
March 2008

Sex differences in brain and behavior: hormones versus genes.

Adv Genet 2007 ;59:245-66

Laboratory of Sexual Medicine, Department of Urology, David Geffen School of Medicine at UCLA, Gonda Center, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1016/S0065-2660(07)59009-7DOI Listing
October 2007

Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis.

J Endocrinol 2007 Jul;194(1):153-60

Department of Human Genetics, David Geffen School of Medicine at UCLA, Gonda Center, University of California, Room 6357, 695 Charles Young Drive South, Los Angeles, California 90095-7088, USA.

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http://dx.doi.org/10.1677/JOE-07-0102DOI Listing
July 2007

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

Department of Medicine, VA Medical Center, University of California, San Francisco, CA 94121, USA.

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http://dx.doi.org/10.1016/j.urolonc.2006.08.002DOI Listing
May 2007