Smita Y. Patel

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

Amy P. Hsu, Elizabeth P. Sampaio, Javed Khan et al. · Blood · 2011 · 636 citations

Life Sciences, Genetics, Molecular Genetics +12

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Adult-Onset Immunodeficiency in Thailand and Taiwan

Sarah Browne, Peter D. Burbelo, Ploenchan Chetchotisakd et al. · New England Journal of Medicine · 2012 · 551 citations · Full text

Life Sciences, Immunology, Infectious Diseases +14

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Revisiting Human IL-12Rβ1 Deficiency

Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante et al. · Medicine · 2010 · 386 citations · Full text

Veterinary Medicine, Immunology, Infectious Diseases +14