GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
2015 · Human Mutation · 1,538 citations
https://doi.org/10.1002/humu.22844
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Nara Sobreira
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Nara Sobreira is an academic researcher from Instituto Biológico. The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Cancer Genomics and Diagnostics. The author has an h-index of 31, co-authored 90 publications.
ORCID: 0000-0002-5228-5613Papers by this author
worksLoss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
2019 · Journal of Clinical Investigation · 101 citations
https://doi.org/10.1172/jci123959
Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome
2014 · American Journal of Medical Genetics Part A · 81 citations
https://doi.org/10.1002/ajmg.a.36863
Progressive 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
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