Publications by authors named "Eric Vilain"

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Regional gray matter variation in male-to-female transsexualism.
Eileen Luders, Francisco J Sánchez, Christian Gaser, Arthur W Toga, Katherine L Narr, Liberty S Hamilton, Eric Vilain

Neuroimage· July 2009

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Integrity is needed in the regulation of transgender athletes and athletes with sex variations.
Madeleine Pape, Anna Posbergh, Sheree Bekker, Michele Donnelly, Ke Hu, Eric Vilain

Br J Sports Med· December 2025

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Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko, Eric Vilain

Genet Med· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Eric Vilain

Nature· November 2025

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Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline.
Gina A Montealegre Sanchez, Lauren E Arrigoni, Alexandra B Yonts, Kevin B Rubenstein, James E Bost, Eric Vilain

Pediatr Res· August 2025

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Building a growing genomic repository for maternal and fetal health through the PING Consortium.
Clara M Abdelmalek, Shriya Singh, Blain Fasil, Allison R Horvath, Sarah B Mulkey, Eric Vilain

Pediatr Res· August 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Eric Vilain

HGG Adv· July 2025

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Urban environmental and population factors as determinants of COVID-19 severity: A spatially-resolved probabilistic modeling approach.
Jacob Roxon, Marie-Sophie Dumont, Eric Vilain, Mircea T Sofonea, Roland J-M Pellenq

PLOS Digit Health· July 2025

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Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Georgia Pitsava, Megan Hawley, Light Auriga, Ivan de Dios, Arthur Ko, Eric Vilain

medRxiv· June 2025

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Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement.
Martine Cools, Earl Y Cheng, Joanne Hall, Julie Alderson, Anne-Marie Amies Oelschlager, Eric Vilain

Horm Res Paediatr· April 2025

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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Eric Vilain

Am J Hum Genet· March 2025

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M Devaney, Jessica Noya, Eric Vilain

Nat Commun· March 2025

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Paolo Canigiula, Brandy McNulty, Eric Vilain

Am J Hum Genet· February 2025

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Long-read sequencing resolves the clinically relevant locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.
Jean Monlong, Xiao Chen, Hayk Barseghyan, William J Rowell, Shloka Negi, Eric Vilain

medRxiv· February 2025

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Identification of variants from parent-proband duos via long-read sequencing.
Leandros Boukas, Emmanuèle C Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Eric Vilain

medRxiv· February 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Eric Vilain

medRxiv· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Eric Vilain

ArXiv· December 2024

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Fair and Safe Eligibility Criteria for Women's Sport: The Proposed Testing Regime Is Not Justified, Ethical, or Viable.
Alun G Williams, Shane M Heffernan, Adam J Herbert, Blair R Hamilton, Francisco J Sánchez, Eric Vilain

Scand J Med Sci Sports· November 2024

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A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Ya Cui, Wenbin Ye, Jason Sheng Li, Jingyi Jessica Li, Eric Vilain

Cell· October 2024

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Glutathione peroxidase 3 is a potential biomarker for konzo.
Matthew S Bramble, Victor Fourcassié, Neerja Vashist, Florence Roux-Dalvai, Yun Zhou, Eric Vilain

Nat Commun· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Eric Vilain

Nature· August 2024

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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Shloka Negi, Sarah L Stenton, Seth I Berger, Brandy McNulty, Ivo Violich, Eric Vilain

medRxiv· August 2024

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Building a growing genomic data repository for maternal and fetal health through the PING Consortium.
Clara M Abdelmalek, Shriya Singh, Blain Fasil, Allison R Horvath, Sarah B Mulkey, Eric Vilain

medRxiv· May 2024

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A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Ya Cui, Wenbin Ye, Jason Sheng Li, Jingyi Jessica Li, Eric Vilain

Cell· April 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Eric Vilain

medRxiv· April 2024

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Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.
Abhinav Parivesh, Emmanuèle Délot, Alejandra Reyes, Janelle Ryan, Surajit Bhattacharya, Eric Vilain

Biol Sex Differ· March 2024

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