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Proceedings of the National Academy of Sciences of the United States of America|February 18, 2021
The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythmCharlotte D Koopman, Jessica De Angelis, Swati P Iyer, et al.American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.American Journal of Human Genetics|October 8, 2019
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during InfancyHuifang Yan, Guy Helman, Swetha E Murthy, et al.Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.Neurology|February 10, 2019
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.Nature Cell Biology|November 9, 2021
The RNA helicase Ddx21 controls Vegfc-driven developmental lymphangiogenesis by balancing endothelial cell ribosome biogenesis and p53 functionKatarzyna Koltowska, Kazuhide S Okuda, Marleen Gloger, et al.Nature Genetics|April 21, 2009
Tiny RNAs associated with transcription start sites in animalsRyan J Taft, Evgeny A Glazov, Nicole Cloonan, et al.Annals of Neurology|August 10, 2022
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and MicroangiopathyGuy Helman, Parand Zarekiani, Samantha A M Tromp, et al.Pageof 12