Markus Storbeck

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Physiology, Orthopaedic Surgery, Perinatal Respiratory Distress +1

Identification of Evolutionarily Conserved Exons as Regulated Targets for the Splicing Activator Tra2β in Development

Sushma Nagaraja Grellscheid, Caroline Dalgliesh, Markus Storbeck et al. · PLoS Genetics · 2011 · 74 citations · Full text

Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove et al. · Annals of Neurology · 2017 · 60 citations · Full text

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger et al. · European Journal of Human Genetics · 2017 · 53 citations · Full text

Autoimmune Disease, Phenotypic Extremes, Pathology +4

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Mert Karakaya, Markus Storbeck, Eike A. Strathmann et al. · Human Mutation · 2018 · 53 citations

Spinal Muscular Atrophies, Genetics, Genetic Epidemiology +18