Associated Papers
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
A glycogene mutation map for discovery of diseases of glycosylation.
Hansen L et al.
Glycobiology, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Childhood onset of limb-girdle muscular dystrophy.
Rosales XQ et al.
Pediatric Neurology, 2012
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
Vuillaumier-Barrot S et al.
Neuromuscular Disorders : Nmd, 2011
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J et al.
The Biochemical Journal, 2011
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Jimenez-Mallebrera C et al.
Brain Pathology (zurich, Switzerland), 2009
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2009
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Clement EM et al.
Archives of Neurology, 2008