Influences of rare copy-number variation on human complex traits.
Hujoel MLA, Sherman MA, Barton AR, Mukamel RE, Sankaran VG, Terao C, Loh PR.
Cell. 2022 10 27. 185(22):4233-4248.e27. PMID: 36306736
Other Positions
Assistant Professor of Medicine
Medicine
Harvard Insitutes of Medicine
Links
Bibliography
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.
Genovese G, Mello CJ, Loh PR, Handsaker RE, Kashin S, Whelan CW, Bayer-Zwirello LA, McCarroll SA.
Sci Rep. 2022 07 14. 12(1):12025. PMID: 35835769
Incorporating family history of disease improves polygenic risk scores in diverse populations.
Hujoel MLA, Loh PR, Neale BM, Price AL.
Cell Genom. 2022 Jul 13. 2(7). PMID: 35935918
A spectrum of recessiveness among Mendelian disease variants in UK Biobank.
Barton AR, Hujoel MLA, Mukamel RE, Sherman MA, Loh PR.
Am J Hum Genet. 2022 07 07. 109(7):1298-1307. PMID: 35649421
Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets.
Márquez-Luna C, Gazal S, Loh PR, Kim SS, Furlotte N, Auton A, Price AL.
Nat Commun. 2021 10 18. 12(1):6052. PMID: 34663819
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Zheng Y, McCarroll SA, Loh PR.
Science. 2021 Sep 24. 373(6562):1499-1505. PMID: 34554798
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 08. 53(8):1260-1269. 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 06. 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