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The Journal of Clinical Investigation|January 30, 2026
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunctionMaria C Foss-Freitas, Donatella Gilio, Lynn Pais, et al.Iscience|June 13, 2024
<i>De novo</i> <i>TLK1</i> and <i>MDM1</i> mutations in a patient with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.Medrxiv : the Preprint Server for Health Sciences|September 4, 2023
Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.European Journal of Human Genetics : EJHG|August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityNatja Haag, Ene-Choo Tan, Matthias Begemann, et al.Development (Cambridge, England)|May 23, 2020
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorderLynelle K Jones, Rachel Lam, Karen K McKee, et al.Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein AggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Ultra-rare biallelic <i>THAP12</i> variants cause loss of function and underlie severe epileptic encephalopathyKatarzyna Ochenkowska, Bryce Rampal, Antoine Légaré, et al.Pageof 7