Precilla D’Souza

机构：National Institutes of Health, Baylor College of Medicine, National Human Genome Research Institute, Office of the Director, Université Bourgogne Franche-Comté, National Institutes of Health Clinical Center, National Institute of Mental Health · ORCID：0000-0002-8468-5822

发表论文 83 篇 · 总被引 1430 次 · h-index 20

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• GM1 gangliosidosis type II: Results of a 10-year prospective study (2024 · Genetics in Medicine · 被引 19)
• Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia (2024 · Journal of Clinical Immunology · 被引 16)
• Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts (2025 · Orphanet Journal of Rare Diseases · 被引 11)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)
• Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients (2025 · Molecular Genetics and Metabolism · 被引 7)