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American Journal of Medical Genetics. Part A|November 30, 2021
22q11.2 duplications: Expanding the clinical presentationLauren E Bartik, Susan S Hughes, Meghan Tracy, et al.
American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohortTricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.
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