Associated Papers
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.
Shah A et al.
Journal of Human Genetics, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA et al.
Journal of Inherited Metabolic Disease, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Inherited disorders of lysosomal membrane transporters.
Huizing M et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
Constantinou P et al.
Molecular Syndromology, 2016
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
Farwell Gonzalez KD et al.
Jimd Reports, 2015
Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.
Joslin AC et al.
Genes & Nutrition, 2014
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Miousse IR et al.
Molecular Genetics and Metabolism, 2011
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Gailus S et al.
Journal of Molecular Medicine (berlin, Germany), 2010
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Gailus S et al.
Journal of Inherited Metabolic Disease, 2010
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Rutsch F et al.
Nature Genetics, 2009