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Annals of Neurology|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismAnne Schänzer, Melanie T Achleitner, Dietrich Trümbach, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Human Molecular Genetics|October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyLaura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
American Journal of Human Genetics|August 16, 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Hannah Kennedy, Tobias B Haack, Verity Hartill, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
International Journal of Radiation Oncology, Biology, Physics|April 17, 2020
Understanding High-Dose, Ultra-High Dose Rate, and Spatially Fractionated Radiation TherapyRobert J Griffin, Mansoor M Ahmed, Beatriz Amendola, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
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