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Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksNina B Gold, Hana Zouk, Julie Yeo, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
European Journal of Human Genetics : EJHG|September 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrumVéronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participantsAmir Hossein Saeidian, Michael E March, Leila Youssefian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesDong Li, Alanna Strong, Kaitlyn M Shen, et al.
Frontiers in Genetics|July 11, 2026
A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case reportDmitrijs Rots, Beatriz Cristina de Oliveira, Laura Machado Lara Carvalho, et al.
The Journal of Clinical Investigation|July 4, 2012
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolismAlanna Strong, Qiurong Ding, Andrew C Edmondson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndromeAlanna Strong, Michael E March, Christopher J Cardinale, et al.
JAMA Network Open|May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome SequencingNina B Gold, Sophia M Adelson, Nidhi Shah, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
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