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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Elizabeth Wohler
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Elizabeth Wohler is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 21, co-authored 52 publications.
ORCID: 0000-0001-6189-9839Papers by this author
worksProgressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
2022 · The American Journal of Human Genetics · 51 citations
https://doi.org/10.1016/j.ajhg.2022.03.015
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
2021 · Orphanet Journal of Rare Diseases · 30 citations
https://doi.org/10.1186/s13023-021-01916-z
The impact of GeneMatcher on international data sharing and collaboration
2022 · Human Mutation · 27 citations
https://doi.org/10.1002/humu.24350
Ring Chromosome 17 Syndrome—A Case Report and Discussion of Diagnostic Methods
2024 · American Journal of Medical Genetics Part A · 1 citations
https://doi.org/10.1002/ajmg.a.63925
P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.101121
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