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American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.
Genetics in Medicine Open|July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndromeBryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
The Journal of Clinical Investigation|November 13, 2019
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseJuan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Anti-CD320 Autoantibodies and Central Nervous System Vitamin B12 Deficiency in Idiopathic MyelopathyJohn V Pluvinage, David Acero-Garces, Giacomo Greco, et al.
American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
The New England Journal of Medicine|February 21, 2014
Early-onset stroke and vasculopathy associated with mutations in ADA2Qing Zhou, Dan Yang, Amanda K Ombrello, et al.
Annals of the Rheumatic Diseases|July 22, 2022
Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndromeChristina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, et al.
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