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American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
American Journal of Human Genetics|February 24, 2026
Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalitiesDavut Pehlivan, Abigail Sandoval, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndromeEissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
Nature|April 28, 2022
TLR7 gain-of-function genetic variation causes human lupusGrant J Brown, Pablo F Cañete, Hao Wang, et al.
Annals of Neurology|January 14, 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Pirjo Isohanni, Yunru Shao, et al.
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