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W Richard McCombie

Explore the profile of W Richard McCombie including associated specialties, affiliations and a list of published articles. Areas
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Articles 127
Citations 20382
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Recent Articles
1.
Benoit M, Jenike K, Satterlee J, Ramakrishnan S, Gentile I, Hendelman A, et al.
Nature . 2025 Mar; PMID: 40044854
Pan-genomics and genome-editing technologies are revolutionizing breeding of global crops. A transformative opportunity lies in exchanging genotype-to-phenotype knowledge between major crops (that is, those cultivated globally) and indigenous crops (that...
2.
Cahn J, Regulski M, Lynn J, Ernst E, de Santis Alves C, Ramakrishnan S, et al.
Nat Commun . 2024 Dec; 15(1):10854. PMID: 39738013
Modern maize (Zea mays ssp. mays) was domesticated from Teosinte parviglumis (Zea mays ssp. parviglumis), with subsequent introgressions from Teosinte mexicana (Zea mays ssp. mexicana), yielding increased kernel row number,...
3.
Kramer M, Goodwin S, Wappel R, Borio M, Offit K, Feldman D, et al.
bioRxiv . 2024 Jul; PMID: 39005350
Despite significant advances in our understanding of genetic cancer susceptibility, known inherited cancer predisposition syndromes explain at most 20% of early-onset cancers. As early-onset cancer prevalence continues to increase, the...
4.
Stern S, Zhang L, Wang M, Wright R, Rosh I, Hussein Y, et al.
Mol Psychiatry . 2024 May; 29(10):3208-3222. PMID: 38704507
Schizophrenia affects approximately 1% of the world population. Genetics, epigenetics, and environmental factors are known to play a role in this psychiatric disorder. While there is a high concordance in...
5.
Koren S, Bao Z, Guarracino A, Ou S, Goodwin S, Jenike K, et al.
bioRxiv . 2024 Mar; PMID: 38529488
The combination of ultra-long Oxford Nanopore (ONT) sequencing reads with long, accurate PacBio HiFi reads has enabled the completion of a human genome and spurred similar efforts to complete the...
6.
Gustafson J, Gibson S, Damaraju N, Zalusky M, Hoekzema K, Twesigomwe D, et al.
medRxiv . 2024 Mar; PMID: 38496498
Less than half of individuals with a suspected Mendelian condition receive a precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in data quality and costs have heightened interest in...
7.
Scheben A, Mendivil Ramos O, Kramer M, Goodwin S, Oppenheim S, Becker D, et al.
Genome Biol Evol . 2023 Sep; 15(9). PMID: 37728212
Bats are exceptional among mammals for their powered flight, extended lifespans, and robust immune systems and therefore have been of particular interest in comparative genomics. Using the Oxford Nanopore Technologies...
8.
Stevenson D, Ramakrishnan S, de Santis Alves C, Coelho L, Kramer M, Goodwin S, et al.
bioRxiv . 2023 Sep; PMID: 37662366
We present the genome of the living fossil, , a southern hemisphere conifer morphologically unchanged since the Cretaceous. Presumed extinct until rediscovery in 1994, the Wollemi pine is critically endangered...
9.
Noyes M, Harvey W, Porubsky D, Sulovari A, Li R, Rose N, et al.
Am J Hum Genet . 2022 Mar; 109(4):631-646. PMID: 35290762
Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex regions of the genome because these regions cannot be unambiguously mapped with short-read sequencing...
10.
Bhatia S, Kramer M, Russo S, Naik P, Arun G, Brophy K, et al.
Cancer Res . 2022 Feb; 82(7):1174-1192. PMID: 35180770
Significance: A comprehensive analysis of patient-derived organoids of TNBC provides insights into cellular heterogeneity and mechanisms of tumorigenesis at the single-cell level.