Maria Rita Passos‐Bueno

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard, Lindsey B. Rosen, Qian Zhang et al. · Science · 2020 · 2.8K citations · Full text

Life Sciences, Immunology, Infectious Diseases +14

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.5K citations · Full text

Medicine, Genetics, Neurobiology +17

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang, Paul Bastard, Zhiyong Liu et al. · Science · 2020 · 2.4K citations · Full text

Life Sciences, Immunology, Infectious Diseases +16

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 683 citations

Medicine, Genetics, Molecular Genetics +11

Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

Vincenzo Nigro, Eloisa De Sá Moreira, Giulio Piluso et al. · Nature Genetics · 1996 · 424 citations

Medicine, Genetics, Molecular Genetics +12