Majed Dasouki

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 613 citations

Medicine, Molecular Genetics, Oncology +17

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P. Germain, Derralynn Hughes, Daniel G. Bichet et al. · New England Journal of Medicine · 2016 · 556 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

Xiao-Ping Zhou, Kristin Waite, Robert Pilarski et al. · The American Journal of Human Genetics · 2003 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy

Vinod Malik, Louise R. Rodino‐Klapac, Laurence Viollet et al. · Annals of Neurology · 2010 · 272 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +13

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Haifa H. Jabara, Douglas R. McDonald, Erin Janssen et al. · Nature Immunology · 2012 · 221 citations · Full text

Life Sciences, Immunology, Molecular Biology +14