Matti M. Holi
Nature · 2003–2022
A researcher in the Science corpus: 6 papers; trusts 0 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Papers from Matti M. Holi's perspective
Ordered by how strongly the researchers Matti M. Holi trusts endorse each paper. Same corpus, a different order for every researcher.
- An APOBEC Cytidine Deaminase Mutagenesis Pattern is Widespread in Human Cancers (Nature Genetics)
- Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans (Proceedings of the National Academy of Sciences of the United States of America)
- The support of human genetic evidence for approved drug indications (Nature Genetics)
- ClinGen--the Clinical Genome Resource. (New England Journal of Medicine)
- BCFtools/csq: haplotype-aware variant consequences (bioRxiv)
- Incidence of Amyotrophic Lateral Sclerosis in Europe (Journal of Neurology Neurosurgery & Psychiatry)
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
- Consanguinity, human evolution, and complex diseases (Proceedings of the National Academy of Sciences of the United States of America)
- High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities. (Cell)
- The human genome browser at UCSC.
Their papers
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) — 162 citations
- Rare coding variants in 10 genes confer substantial risk for schizophrenia (2022) — 659 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
- Evaluating drug targets through human loss-of-function genetic variation (2019) — 168 citations
- Assessment of psychiatric symptoms using the SCL-90 (2003) — 130 citations