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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.Journal of Medical Genetics|June 11, 2020
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.Pediatric Neurology|June 1, 2019
Severity Assessment in CDKL5 Deficiency DisorderScott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.Nature Genetics|June 29, 2023
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cellsCaleb A Lareau, Sonia M Dubois, Frank A Buquicchio, et al.Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Pageof 10