Vorasuk Shotelersuk

Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

Esteban C. Dell’Angelica, Vorasuk Shotelersuk, R. Claudio Aguilar et al. · Molecular Cell · 1999 · 670 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B*1502 allele in Thai population

Chaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai et al. · Epilepsia · 2008 · 477 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

Whole-genome sequencing reveals host factors underlying critical COVID-19

Athanasios Kousathanas, Erola Pairo‐Castineira, Konrad Rawlik et al. · Nature · 2022 · 347 citations · Full text

Life Sciences, Infectious Diseases, Molecular Genetics +17

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16