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JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, et al.
Biorxiv : the Preprint Server for Biology|May 4, 2026
MitoSAM-dependent lipoylation controls postnatal heart development via metabolic remodelingAnastasia Rumyantseva, Alissa Wilhalm, William Carter, et al.
JCI Insight|September 8, 2023
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutationsJingdian Zhang, Camilla Koolmeister, Jinming Han, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
American Journal of Human Genetics|November 3, 2015
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Yoshihito Kishita, Aleksandra Pajak, Nikhita Ajit Bolar, et al.
Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
American Journal of Human Genetics|August 23, 2016
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze PalsyTobias B Haack, Erika Ignatius, Javier Calvo-Garrido, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
Human Molecular Genetics|November 22, 2002
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applicationsPatrick G Buckley, Kiran K Mantripragada, Magdalena Benetkiewicz, et al.
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