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Molecular Genetics and Metabolism|May 25, 2011
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysisGuo-li Wang, Jing Wang, Ganka Douglas, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2026
Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS programMegan Clarke, Katrina Paleologos, Nicole R Kelly, et al.
Kidney International Reports|June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial DiseaseDaniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Molecular Genetics and Metabolism|June 6, 2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff, Himabindu Gaddipati, Paige Kaplan, et al.
Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
Molecular Genetics and Metabolism|May 23, 2022
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patientsMark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
Molecular Genetics and Metabolism Reports|January 4, 2024
ScreenPlus: A comprehensive, multi-disorder newborn screening programNicole R Kelly, Joseph J Orsini, Aaron J Goldenberg, et al.
Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, 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.
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