Jason Carmichael

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock, Sara Caylor, Bryce Waldman et al. · The American Journal of Human Genetics · 2021 · 248 citations · Full text

Medicine, Child Health, Pediatrics +10

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Wan Hee Yoon, Héctor Sandoval, Sonal Nagarkar-Jaiswal et al. · Neuron · 2016 · 111 citations

Life Sciences, Molecular Biology, Neuroscience +12

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Linshan Shang, Lindsay B. Henderson, Megan T. Cho et al. · Neurogenetics · 2015 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1

Calixto‐Hope G. Lucas, Emily A. Sloan, Rohit Gupta et al. · Acta Neuropathologica · 2022 · 51 citations · Full text

Medicine, Genetics, Oncology +17

<i>De novo</i> missense variants in <i>MEIS2</i> recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

Ganka Douglas, Megan T. Cho, Aida Telegrafi et al. · American Journal of Medical Genetics Part A · 2018 · 43 citations

Life Sciences, Genetics, Molecular Genetics +17