Associated Papers
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Aubert Mucca M et al.
Clinical Genetics, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Clinical and genomic features of non-small cell lung cancer occurring in families.
Miyabe S et al.
Thoracic Cancer, 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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Elevated DHODH expression promotes cell proliferation via stabilizing β-catenin in esophageal squamous cell carcinoma.
Qian Y et al.
Cell Death & Disease, 2020
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Mitochondrial nucleic acid binding proteins associated with diseases.
Uchiumi T et al.
Frontiers in Bioscience (landmark Edition), 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
Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A et al.
Clinical Dysmorphology, 2011
Exome sequencing identifies the cause of a mendelian disorder.
Ng SB et al.
Nature Genetics, 2010
Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
van Roey VL et al.
The Journal of Craniofacial Surgery, 0