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Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.Plos One|January 4, 2023
A large-scale genetic screen identifies genes essential for motility in Agrobacterium fabrumDiana G Calvopina-Chavez, Robyn E Howarth, Audrey K Memmott, 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|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.Nature Communications|January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAndrea Accogli, Saurabh Shakya, Taewoo Yang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.Pageof 2