Associated Papers
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
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C et al.
Prenatal Diagnosis, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A et al.
Human Molecular Genetics, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M et al.
Metabolic Brain Disease, 2017
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.
Bhoj EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Baertling F et al.
Neurogenetics, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ et al.
Human Molecular Genetics, 2015
The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D et al.
Biochimie, 2014
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P et al.
European Journal of Human Genetics : Ejhg, 2011