Michel Tchan

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan et al. · Nature Genetics · 2008 · 195 citations

Somatic Variant, Cancer Pathology, Mendelian Disorder +9

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi et al. · Science Advances · 2022 · 173 citations · Full text

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 124 citations

Clinical Trials, Cipaglucosidase Alfa, Pharmacotherapy +2

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Melissa Wasserstein, Robin Lachmann, Carla E. M. Hollak et al. · Genetics in Medicine · 2022 · 91 citations · Full text