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List of works by Eric Vilain

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

scientific article published on 01 February 2012

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

scientific article

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

scientific article published on 23 February 2016

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific journal article

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific article published on 27 December 2016

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

scientific article published on 21 April 2021

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

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

scientific article

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]

Advances in diagnosis and care of persons with DSD over the last decade

scientific article

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

scientific article published on 6 November 2015

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

scientific article

Anomalies of human sexual development: clinical aspects and genetic analysis.

scientific article

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

scientific article published on 9 January 2014

COVID-19 and the International Academy of Sex Research: We Will Be Back

scientific article published on 12 May 2020

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

scientific article published in November 2002

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

scientific article

Clinical exome sequencing for genetic identification of rare Mendelian disorders

scientific article

Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals

scientific article

Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth

scientific article published on 11 December 2020

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

scientific article

DSDs: genetics, underlying pathologies and psychosexual differentiation

scientific article published on 5 August 2014

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

scientific article

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

scientific article

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

scientific article

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

scientific article published on 23 January 2014

Dead chromosome walking

scientific article published on 03 March 2004

Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice

scholarly article

Development of a decision support tool in pediatric Differences/Disorders of Sex Development

scientific article published on 13 September 2019

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination

scientific article published on 01 July 2003

Direct regulation of adult brain function by the male-specific factor SRY

scientific article

Disorders of Sex Development

Disorders of Sex Development

article

Disorders of Sex Development

Disorders of gonadal development

scientific article

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

scientific article published on 30 May 2017

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

scientific article

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics

scientific article published on 10 October 2018

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

scientific article published on 22 December 2015

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development

scientific article published on January 2017

Elements of morphology: Standard terminology for the external genitalia ⬇️

scientific article published on May 6, 2013

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

scientific article published on 03 June 2017

Epigenetic predictor of age

scientific article

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

scientific article

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

scientific article

Extreme skewing of X chromosome inactivation in mothers of homosexual men.

scientific article

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father

scientific article published on July 2002

Familial transmission of genitovaginal prolapse

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

scientific article

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

scientific article

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

scientific article published on 21 June 2019

Genes and brain sex differences.

scientific article

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

scientific article published on 01 December 2019

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling

scientific article published on 01 February 2019

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

scientific article

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

scientific article published on 22 June 2008

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

scientific article

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Human SRY inhibits beta-catenin-mediated transcription

scientific article published on 28 June 2008

Hurdling over sex? Sport, science, and equity.

scientific article published on August 2014

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

scientific article

IRF2BPL Is Associated with Neurological Phenotypes

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

scientific article

Identification of differential hypothalamic DNA methylation and gene expression associated with sexual partner preferences in rams

scientific article published on 12 May 2022

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

scientific article published on 30 January 2018

Increased Cortical Thickness in Male-to-Female Transsexualism

scientific article published on August 2012

Interpreting whole-genome sequencing

scientific article published on 01 July 2014

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

scientific article published on 21 September 2017

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

scientific article

Long-read single-molecule maps of the functional methylome

scientific article published on 07 March 2019

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

scientific article published on 26 December 2019

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

scientific article

Masculine Gender Role Conflict and Negative Feelings about Being Gay.

scientific article

Masculine consciousness and anti-effeminacy among latino and white gay men

article published in 2016

Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development

scientific article published on April 2006

Membrane β‐catenin and adherens junctions in early gonadal patterning ⬇️

scientific article published on October 5, 2012

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

scientific article published on 01 March 2004

Motor Control And Cognition Deficits Associated With Protein Carbamoylation In Food (Cassava) Cyanogenic Poisoning: Neurodegeneration And Genomic Perspectives

scientific article published on 06 December 2020

Mutant Cohesin in Premature Ovarian Failure

scientific article (publication date: 6 March 2014)

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

scientific article published on 28 January 2021

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

scientific article published on 16 November 2018

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

scientific article

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

scientific article

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

scientific article published on 12 April 2018

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

scientific article published on 08 May 2020

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

scientific article published on 25 October 2017

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

scientific article published on 6 September 2014

Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors

scientific article published on 13 August 2018

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

scientific article

Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline

scientific article published in 2024

Prolactin expression in the sheep brain

scientific article published on 28 January 2008

Psychological Effects of Sex Differentiation

scientific article published in 2018

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

scientific article published on 01 January 2018

Regional gray matter variation in male-to-female transsexualism

scientific article

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

scientific article

Reported Effects of Masculine Ideals on Gay Men.

scientific article

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

scientific article published on 29 November 2011

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

scientific article published on 01 October 2019

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).

scientific article published on 30 April 2019

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

scientific article published on 24 April 2019

SRY and the Genetics of Sex Determination

article

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

scientific article published on 02 April 2019

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse

scientific article published on 05 October 2006

Sex differences in brain and behavior: hormones versus genes

scientific article published on January 2007

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

scientific article published on 15 November 2016

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

scientific article published on 01 August 2019

Sexual Orientation, Controversy, and Science.

scientific article

Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation ⬇️

scientific article published on October 21, 2003

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings

scientific article published on 01 January 2019

Sry and the genetics of sex determination

scientific article

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

scientific article published in September 2009

Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ

scientific article

The Genetics of Ovotesticular Disorders of Sex Development ⬇️

scientific article published on 01 January 2011

The Role of Sex Research Organizations in Eliminating Sexual Harassment

scientific article published on 01 July 2019

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

scientific article

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

scientific article (publication date: 2014)

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

scientific article published on 5 May 2008

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

scientific article

The evolution of the search for novel genes in mammalian sex determination: from mice to men

scientific article

The genetics of disorders of sex development in humans.

scientific article published on 31 January 2014

The genetics of sex differences in brain and behavior.

scientific article

The gut microbiome in konzo

scientific article published on 10 September 2021

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

scientific article

The importance of having two X chromosomes

scientific article published on February 2016

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

scientific article published on 15 January 2013

The regulations about eligibility for women with hyperandrogenism to compete in women′s category are well founded. A rebuttal to the conclusions by Healyet al

scientific article published on 25 July 2014

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

scientific article

The subjective experience of social class and upward mobility among African American men in graduate school ⬇️

scientific article published on October 1, 2011

The unfinished race: 30 years of gender verification in sport

scientific article

Towards improved genetic diagnosis of human differences of sex development

scientific article published on 03 June 2021

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

scientific article published on 20 March 2019

Translational Genetics for Diagnosis of Human Disorders of Sex Development ⬇️

scientific article published on July 15, 2013

Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective?

scientific article published in August 2016

Un neuropeptide à l’origine du vieillissement testiculaire ?

scientific article published on 01 October 2006

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

scientific article published on 20 June 2016

We used to call them hermaphrodites

scientific article

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

scientific article published on March 2008

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy

scientific article

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

scientific article published on 14 January 2015

nanotatoR: a tool for enhanced annotation of genomic structural variants

scientific article published on 06 January 2021

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