Robert J. Pomponio

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans et al. · Neurology · 2007 · 175 citations

Life Sciences, Genetics, Molecular Genetics +16

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Marian A. Kroos, Robert J. Pomponio, Laura Van de Vliet et al. · Human Mutation · 2008 · 145 citations · Full text

Life Sciences, Genetics, Pathology +15

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Paul Labrousse, Yin‐Hsiu Chien, Robert J. Pomponio et al. · Molecular Genetics and Metabolism · 2009 · 103 citations

Life Sciences, Genetics, Pediatrics +12

Safety, pharmacokinetics and target engagement of novel <scp>RIPK1</scp> inhibitor <scp>SAR443060</scp> (<scp>DNL747</scp>) for neurodegenerative disorders: Randomized, <scp>placebo‐controlled</scp>, <scp>double‐blind</scp> phase I/Ib studies in healthy subjects and patients

Maurits F. J. M. Vissers, Jules A. A. C. Heuberger, Geert Jan Groeneveld et al. · Clinical and Translational Science · 2022 · 102 citations · Full text

Medicine, Neurology, Pharmacology +17

Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast.

George L. Mutter, Claudia Stewart, M L Chaponot et al. · PubMed · 1993 · 85 citations

Life Sciences, Genetics, Molecular Genetics +14