Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V et al.
Human Genomics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.
Mohamadian M et al.
Journal of Molecular Neuroscience : Mn, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Mohammadi P et al.
Acta Neurologica Belgica, 2021
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Borisovna KO et al.
Bmc Pediatrics, 2019
Parent-Child Interaction Therapy in a Case of Global Developmental Delay and Leukoencephalopathy.
Shafi RMA et al.
Frontiers in Psychiatry, 2018
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA et al.
Plos One, 2013
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
Teber S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Oliveira J et al.
Journal of Human Genetics, 2008
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Vajsar J et al.
Neuromuscular Disorders : Nmd, 2006
Glycosylation in congenital muscular dystrophies.
Endo T et al.
Biological & Pharmaceutical Bulletin, 2003
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Yoshida A et al.
Developmental Cell, 2001
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA et al.
The Journal of Molecular Diagnostics : Jmd, 0