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 · 629 citations

Adult-Onset Immunodeficiency in Thailand and Taiwan

Sarah Browne, Peter D. Burbelo, Ploenchan Chetchotisakd et al. · New England Journal of Medicine · 2012 · 526 citations · Full text

Revisiting Human IL-12Rβ1 Deficiency

Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante et al. · Medicine · 2010 · 379 citations · Full text

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 · 378 citations · Full text

Sequencing, Psychiatry, Clinical Genome +8

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Donald C. Vinh, Smita Y. Patel, Gülbû Uzel et al. · Blood · 2009 · 325 citations