Associated Papers
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Orozco Rodriguez JM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
Lee IH et al.
Human Mutation, 2020
Variant Ranker: a web-tool to rank genomic data according to functional significance.
Alexander J et al.
Bmc Bioinformatics, 2017
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
Fang J et al.
Bioscience Reports, 2013
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
Fang J et al.
Bioscience Reports, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Rainger J et al.
Human Molecular Genetics, 2012
wANNOVAR: annotating genetic variants for personal genomes via the web.
Chang X et al.
Journal of Medical Genetics, 2012
Exome sequencing identifies the cause of a mendelian disorder.
Ng SB et al.
Nature Genetics, 2010
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