Associated Papers
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.
Kruijt N et al.
Genes, 2025
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Kucera KS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.
Olkinuora A et al.
Frontiers in Oncology, 2024
Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report.
Katz M et al.
Frontiers in Neurology, 2022
Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.
De Paepe B et al.
Acta Neurologica Belgica, 2021
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European Journal of Neurology, 2021
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Panadés-de Oliveira L et al.
Journal of Neurology, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ et al.
Annals of Clinical and Translational Neurology, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM 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
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT et al.
Neurology. Genetics, 2018