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Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
HGG Advances|May 16, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, 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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