Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019 · Journal of Clinical Investigation · 101 citations
https://doi.org/10.1172/jci123959
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Brendan C. Lanpher
WinnMed(US)
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Brendan C. Lanpher is an academic researcher from WinnMed. The author has contributed to research in topics: Genomics and Rare Diseases & Metabolism and Genetic Disorders & Genetics and Neurodevelopmental Disorders. The author has an h-index of 37, co-authored 121 publications.
ORCID: 0000-0002-8899-3582Papers by this author
worksCommonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
2021 · Genetics in Medicine · 32 citations
https://doi.org/10.1038/s41436-020-01084-8
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
2024 · The Journal of Experimental Medicine · 32 citations
https://doi.org/10.1084/jem.20232005
<scp><i>TSPEAR</i></scp> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
2021 · American Journal of Medical Genetics Part A · 20 citations
https://doi.org/10.1002/ajmg.a.62347
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
2021 · The Journal of Pediatrics · 16 citations
https://doi.org/10.1016/j.jpeds.2021.08.070
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
2023 · npj Genomic Medicine · 16 citations
https://doi.org/10.1038/s41525-022-00343-8
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