Juan Carlos Aldave Becerra

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Julie Toubiana, Satoshi Okada, Julia Hiller et al. · Blood · 2016 · 567 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

Ewelina Mamcarz, Sheng Zhou, Timothy Lockey et al. · New England Journal of Medicine · 2019 · 265 citations · Full text

Medicine, Immunology, Pharmacology +16

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Iván K. Chinn, Olive S. Eckstein, Erin C. Peckham‐Gregory et al. · Blood · 2018 · 199 citations · Full text

Medicine, Genetics, Pediatrics +14

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

Jennifer W. Leiding, Satoshi Okada, David Hagin et al. · Journal of Allergy and Clinical Immunology · 2017 · 164 citations · Full text

Medicine, Genetics, Hematology +12