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American Journal of Medical Genetics. Part A|December 3, 2025
Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3Tonya Moss, Natasha L Rudy, Kaelyn Sparks, et al.
American Journal of Medical Genetics. Part A|September 15, 2018
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13CJariya Upadia, Patrick R Gonzales, T Prescott Atkinson, et al.
RNA (New York, N.Y.)|June 6, 2025
Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editingQiupei Du, Anna Cherian, Raymond J Louie, et al.
Molecular Genetics and Metabolism|September 5, 2025
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataractMaxwell B Colonna, Andrzej B Poplawski, Marie N Brzoska, et al.
Cancer Prevention Research (Philadelphia, Pa.)|November 1, 2023
Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative StudyErica M Bednar, J Alejandro Rauh-Hain, Jose J Garcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patrick R Gonzales, Erica F Andersen, Teneille R Brown, et al.
American Journal of Medical Genetics. Part A|July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2GeneNatasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
Brain : a Journal of Neurology|February 9, 2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphologySiddharth Banka, Abigail Bennington, Martin J Baker, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
The Journal of Experimental Medicine|May 5, 2021
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patientsCarole Le Coz, David N Nguyen, Chun Su, et al.
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