Anne H. O'Donnell-Luria
Genetics · 2015–2023
A researcher in the Science corpus: 23 papers; trusts 2 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 437 citations into it
- Computational Biology & Bioinformatics — 75 citations into it
- Cognitive Neuroscience — 29 citations into it
Whom Anne H. O'Donnell-Luria trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Papers from Anne H. O'Donnell-Luria's perspective
Ordered by how strongly the researchers Anne H. O'Donnell-Luria trusts endorse each paper. Same corpus, a different order for every researcher.
- dbSNP: the NCBI database of genetic variation
- Distribution and intensity of constraint in mammalian genomic sequence. (Genome Research)
- Robust relationship inference in genome-wide association studies
- Amino acid substitution matrices from protein blocks.
- KEGG: Kyoto Encyclopedia of Genes and Genomes (Nucleic Acids Res.)
- The human genome browser at UCSC.
- Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
- Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. (American Journal of Human Genetics)
- Alternative Isoform Regulation in Human Tissue Transcriptomes (Nature)
- State of play in amyotrophic lateral sclerosis genetics (Nature Neuroscience)
Their papers
- The mutational constraint spectrum quantified from variation in 141,456 humans (2020) — 8,441 citations
- Regional missense constraint improves variant deleteriousness prediction (2017) — 358 citations
- Using high-resolution variant frequencies to empower clinical genome interpretation (2016) — 413 citations
- Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (2019) — 1,088 citations
- Quantifying penetrance in a dominant disease gene using large population control cohorts (2016) — 400 citations
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) — 162 citations
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016) — 689 citations
- A genomic mutational constraint map using variation in 76,156 human genomes (2023) — 1,228 citations
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022) — 419 citations
- A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022) — 258 citations
- Variant interpretation using population databases: lessons from gnomAD (2021) — 533 citations
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) — 126 citations
- A structural variation reference for medical and population genetics (2020) — 876 citations
- Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) — 179 citations
- Transcript expression-aware annotation improves rare variant discovery and interpretation (2019) — 26 citations
- Evaluating drug targets through human loss-of-function genetic variation (2019) — 168 citations
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework (2019) — 519 citations
- An open resource of structural variation for medical and population genetics (2019) — 76 citations
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2019) — 3 citations
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017) — 301 citations