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Open Biology|July 11, 2023
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme QChiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, et al.
Arxiv|May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical TextsDa Wu, Jingye Yang, Cong Liu, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Brain : a Journal of Neurology|December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegenerationEliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum DiseaseIsabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
European Journal of Human Genetics : EJHG|January 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderFatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Cells|June 2, 2021
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental DelayAnke Vermehren-Schmaedick, Jeffrey Y Huang, Madison Levinson, et al.
American Journal of Human Genetics|May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorderEva Morava, Ulrich A Schatz, Pernille M Torring, et al.
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