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Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.Science Advances|January 19, 2022
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregationSara Carvalhal, Ingrid Bader, Martin A Rooimans, et al.Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.The Journal of Clinical Investigation|November 9, 2023
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature deathDenisa Weis, Liangguang L Lin, Huilun H Wang, et al.Nature Genetics|January 17, 2017
Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancerAlvin P Makohon-Moore, Ming Zhang, Johannes G Reiter, et al.American Journal of Clinical Oncology|July 20, 2012
ACR Appropriateness Criteria® definitive therapy for early-stage cervical cancerWilliam Small, Jonathan B Strauss, Anuja Jhingran, et al.Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, et al.American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.Pageof 69