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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysisSarah L Malecki, David DArienzo, Erica Wennberg, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.JBI Evidence Synthesis|October 21, 2024
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocolCatherine Stratton, Andrew Taylor, Menelaos Konstantinidis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.Pageof 3