Thomas Cassini

Comparison of phenomic profiles in the <i>All of Us</i> Research Program against the US general population and the UK Biobank

Chenjie Zeng, David J. Schlueter, Tam C. Tran et al. · Journal of the American Medical Informatics Association · 2024 · 39 citations · Full text

Public Health, Health Sciences, Electronic Health Records +14

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Burak Tepe, Erica L. Macke, Marcello Niceta et al. · The American Journal of Human Genetics · 2023 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

Victoria E. Rael, Julian A. Yano, John Huizar et al. · The Journal of Experimental Medicine · 2024 · 37 citations · Full text

Life Sciences, Genetics, Immunology +17

Whole genome sequencing reveals novel <i>IGHMBP2</i> variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Thomas Cassini, Laura Duncan, Lynette Rives et al. · Molecular Genetics & Genomic Medicine · 2019 · 28 citations · Full text

Life Sciences, Genetics, Neurology +17

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto, Vikas Bhambhani, Nour Gazzaz et al. · npj Genomic Medicine · 2023 · 18 citations · Full text

Life Sciences, Genetics, Neuroscience +17