Willem De Ridder

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz et al. · Annals of Neurology · 2020 · 77 citations · Full text

Life Sciences, Genetics, Neurology +16

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Katherine Johnson, Marta Bértoli, Lauren Phillips et al. · Skeletal Muscle · 2018 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl Elias Kutzner, Ying Hu et al. · The American Journal of Human Genetics · 2020 · 46 citations · Full text

Medicine, Molecular Genetics, Pathobiology +9