Publications by authors named "Adelyn Beil"

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KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
Amber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir, Adelyn Beil

Hum Mol Genet· August 2025

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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
Ange-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, Gwenaël Le Guyader, Brigitte Gilbert-Dussardier, Adelyn Beil

Eur J Hum Genet· July 2025

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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp

Am J Med Genet A· May 2023

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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.
Jasmine Y Serpen, William Presley, Adelyn Beil, Stephen T Armenti, Kayla Johnson

Genes (Basel)· May 2023

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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
Bela Parekh, Adelyn Beil, Bridget Blevins, Adam Jacobson, Pamela Williams

Genes (Basel)· March 2023

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Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.
Adelyn Beil, Whitney Hornsby, Wendy R Uhlmann, Rajani Aatre, Patricia Arscott

BMC Med Genomics· March 2021

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When Genetics Meets Religion: What Scientists and Religious Leaders Can Learn from Each Other.
Stephen M Modell, Toby Citrin, Margit Burmeister, Sharon L R Kardia, Adelyn Beil

Public Health Genomics· May 2020

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