Precilla D’Souza

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

Stephanie M. Salabarria, Manuela Corti, Kirsten E. Coleman et al. · Journal of Clinical Investigation · 2023 · 128 citations · Full text

Medicine, Hematology, Nephrology +17

Randomized, Controlled Trial of Intravenous Immunoglobulin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections

Kyle A. Williams, Susan E. Swedo, Cristan Farmer et al. · Journal of the American Academy of Child & Adolescent Psychiatry · 2016 · 124 citations

Medicine, Immunology, Pediatrics +10

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17