Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

101 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Large mosaic copy number variations confer autism risk.
Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR. Sherman MA, et al. Among authors: loh pr. Nat Neurosci. 2021 Feb;24(2):197-203. doi: 10.1038/s41593-020-00766-5. Epub 2021 Jan 11. Nat Neurosci. 2021. PMID: 33432194 Free PMC article.
Influences of rare copy-number variation on human complex traits.
Hujoel MLA, Sherman MA, Barton AR, Mukamel RE, Sankaran VG, Terao C, Loh PR. Hujoel MLA, et al. Among authors: loh pr. Cell. 2022 Oct 27;185(22):4233-4248.e27. doi: 10.1016/j.cell.2022.09.028. Cell. 2022. PMID: 36306736 Free PMC article.
Hidden protein-altering variants influence diverse human phenotypes.
Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Hujoel MLA, et al. Among authors: loh pr. bioRxiv [Preprint]. 2023 Jun 9:2023.06.07.544066. doi: 10.1101/2023.06.07.544066. bioRxiv. 2023. PMID: 37333244 Free PMC article. Updated. Preprint.
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Loh PR, et al. Nature. 2018 Jul;559(7714):350-355. doi: 10.1038/s41586-018-0321-x. Epub 2018 Jul 11. Nature. 2018. PMID: 29995854 Free PMC article.
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team; Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB. Thompson DJ, et al. Among authors: loh pr. Nature. 2019 Nov;575(7784):652-657. doi: 10.1038/s41586-019-1765-3. Epub 2019 Nov 20. Nature. 2019. PMID: 31748747 Free PMC article.
101 results