Associated Papers
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
The global prevalence and genetic spectrum of primary carnitine deficiency.
Sun L et al.
Bmc Genomic Data, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.
Jolfayi AG et al.
Bmc Cardiovascular Disorders, 2024
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant NM et al.
Molecular Genetics and Metabolism, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC et al.
Human Mutation, 2012
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
Filippo CA et al.
Biochimica Et Biophysica Acta, 2011
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY et al.
Human Mutation, 2010
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010