Gautam Ambegaonkar

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra et al. · Neurology · 2017 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran et al. · The Lancet Diabetes & Endocrinology · 2019 · 126 citations · Full text

Medicine, Endocrinology, Pharmacology +4

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 113 citations · Full text

Life Sciences, Endocrinology, Immunology +3

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

Jean K. Mah, Paula R. Clemens, Michela Guglieri et al. · JAMA Network Open · 2022 · 88 citations · Full text

Pharmacy, Pharmacotherapy, Clinical Pharmacology +12