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American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.Brain : a Journal of Neurology|June 22, 2014
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophySophie Nicole, Amina Chaouch, Torberg Torbergsen, et al.Blood|June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphomaJarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.Cell|December 20, 2014
Dual proteolytic pathways govern glycolysis and immune competenceWei Lu, Yu Zhang, David O McDonald, et al.American Journal of Human Genetics|May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor NeuronopathyDavid T Burns, Sandra Donkervoort, Juliane S Müller, et al.Medrxiv : the Preprint Server for Health Sciences|July 30, 2026
Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell functionYun-Han Huang, Kathya Arana, Suzanna Rachimi, et al.Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.Science Immunology|May 24, 2024
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromeRui Chen, Elena Lukianova, Ina Schim van der Loeff, et al.The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.Pageof 6