Paul R. Mark

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas et al. · New England Journal of Medicine · 2017 · 235 citations · Full text

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman et al. · Clinical Epigenetics · 2019 · 123 citations · Full text

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 98 citations · Full text

Developmental Anomaly, Pathogenic Sptbn1 Variants, Brain Development +7

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8