Po-Ru Loh

GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.

Zhao Y, Stankovic S, Koprulu M, Wheeler E, Day FR, Lango Allen H, Kerrison ND, Pietzner M, Loh PR, Wareham NJ, Langenberg C, Ong KK, Perry JRB.

Nat Commun. 2021 07 07. 12(1):4178. PMID: 34234147

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Barton AR, Sherman MA, Mukamel RE, Loh PR.

Nat Genet. 2021 Jul 05. PMID: 34226706

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.

Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P.

Nat Med. 2021 Jun. 27(6):1012-1024. PMID: 34099924

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.

Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Zheng Y, McCarroll SA, Loh PR.

bioRxiv. 2021 Jan 19. PMID: 33501449

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.

Nat Neurosci. 2021 02. 24(2):197-203. PMID: 33432194

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.

Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G.

Res Sq. 2020 Nov 16. PMID: 33236004

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.

Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Ganna A, Machiela MJ, Genovese G, Natarajan P.

medRxiv. 2020 Nov 16. PMID: 33236019

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes.

Brown DW, Lin SH, Loh PR, Chanock SJ, Savage SA, Machiela MJ.

PLoS Genet. 2020 10. 16(10):e1009078. PMID: 33090998

Monogenic and polygenic inheritance become instruments for clonal selection.

Loh PR, Genovese G, McCarroll SA.

Nature. 2020 08. 584(7819):136-141. PMID: 32581363

Chromosomal alterations among age-related haematopoietic clones in Japan.

Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR, Kamatani Y.

Nature. 2020 08. 584(7819):130-135. PMID: 32581364