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Page 1
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
Lin SH, Sampson JN, Grünewald TGP, Surdez D, Reynaud S, Mirabeau O, Karlins E, Rubio RA, Zaidi S, Grossetête-Lalami S, Ballet S, Lapouble E, Laurence V, Michon J, Pierron G, Kovar H, Kontny U, González-Neira A, Alonso J, Patino-Garcia A, Corradini N, Bérard PM, Miller J, Freedman ND, Rothman N, Carter BD, Dagnall CL, Burdett L, Jones K, Manning M, Wyatt K, Zhou W, Yeager M, Cox DG, Hoover RN, Khan J, Armstrong GT, Leisenring WM, Bhatia S, Robison LL, Kulozik AE, Kriebel J, Meitinger T, Metzler M, Krumbholz M, Hartmann W, Strauch K, Kirchner T, Dirksen U, Mirabello L, Tucker MA, Tirode F, Morton LM, Chanock SJ, Delattre O, Machiela MJ. Lin SH, et al. Among authors: manning m. PLoS One. 2020 Sep 3;15(9):e0237792. doi: 10.1371/journal.pone.0237792. eCollection 2020. PLoS One. 2020. PMID: 32881892 Free PMC article.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Pathak A, et al. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.
Machiela MJ, Grünewald TGP, Surdez D, Reynaud S, Mirabeau O, Karlins E, Rubio RA, Zaidi S, Grossetete-Lalami S, Ballet S, Lapouble E, Laurence V, Michon J, Pierron G, Kovar H, Gaspar N, Kontny U, González-Neira A, Picci P, Alonso J, Patino-Garcia A, Corradini N, Bérard PM, Freedman ND, Rothman N, Dagnall CL, Burdett L, Jones K, Manning M, Wyatt K, Zhou W, Yeager M, Cox DG, Hoover RN, Khan J, Armstrong GT, Leisenring WM, Bhatia S, Robison LL, Kulozik AE, Kriebel J, Meitinger T, Metzler M, Hartmann W, Strauch K, Kirchner T, Dirksen U, Morton LM, Mirabello L, Tucker MA, Tirode F, Chanock SJ, Delattre O. Machiela MJ, et al. Among authors: manning m. Nat Commun. 2018 Aug 9;9(1):3184. doi: 10.1038/s41467-018-05537-2. Nat Commun. 2018. PMID: 30093639 Free PMC article.
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
Lee OW, Rodrigues C, Lin SH, Luo W, Jones K, Brown DW, Zhou W, Karlins E, Khan SM, Baulande S, Raynal V, Surdez D, Reynaud S, Rubio RA, Zaidi S, Grossetête S, Ballet S, Lapouble E, Laurence V, Pierron G, Gaspar N, Corradini N, Marec-Bérard P, Rothman N, Dagnall CL, Burdett L, Manning M, Wyatt K, Yeager M, Chari R, Leisenring WM, Kulozik AE, Kriebel J, Meitinger T, Strauch K, Kirchner T, Dirksen U, Mirabello L, Tucker MA, Tirode F, Armstrong GT, Bhatia S, Robison LL, Yasui Y, Romero-Pérez L, Hartmann W, Metzler M, Diver WR, Lori A, Freedman ND, Hoover RN, Morton LM, Chanock SJ, Grünewald TGP, Delattre O, Machiela MJ. Lee OW, et al. Among authors: manning m. Am J Hum Genet. 2023 Mar 2;110(3):427-441. doi: 10.1016/j.ajhg.2023.01.017. Epub 2023 Feb 13. Am J Hum Genet. 2023. PMID: 36787739 Free PMC article.
Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa.
Zhou W, Fischer A, Ogwang MD, Luo W, Kerchan P, Reynolds SJ, Tenge CN, Were PA, Kuremu RT, Wekesa WN, Masalu N, Kawira E, Kinyera T, Otim I, Legason ID, Nabalende H, Ayers LW, Bhatia K, Goedert JJ, Gouveia MH, Cole N, Hicks B, Jones K, Hummel M, Schlesner M, Chagaluka G, Mutalima N, Borgstein E, Liomba GN, Kamiza S, Mkandawire N, Mitambo C, Molyneux EM, Newton R, Glaser S, Kretzmer H, Manning M, Hutchinson A, Hsing AW, Tettey Y, Adjei AA, Chanock SJ, Siebert R, Yeager M, Prokunina-Olsson L, Machiela MJ, Mbulaiteye SM. Zhou W, et al. Among authors: manning m. Nat Commun. 2023 Dec 6;14(1):8081. doi: 10.1038/s41467-023-43881-0. Nat Commun. 2023. PMID: 38057307 Free PMC article.
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.
Purdue MP, Dutta D, Machiela MJ, Gorman BR, Winter T, Okuhara D, Cleland S, Ferreiro-Iglesias A, Scheet P, Liu A, Wu C, Antwi SO, Larkin J, Zequi SC, Sun M, Hikino K, Hajiran A, Lawson KA, Cárcano F, Blanchet O, Shuch B, Nepple KG, Margue G, Sundi D, Diver WR, Folgueira MAAK, van Bokhoven A, Neffa F, Brown KM, Hofmann JN, Rhee J, Yeager M, Cole NR, Hicks BD, Manning MR, Hutchinson AA, Rothman N, Huang WY, Linehan WM, Lori A, Ferragu M, Zidane-Marinnes M, Serrano SV, Magnabosco WJ; BioBank Japan Project; Vilas A, Decia R, Carusso F, Graham LS, Anderson K, Bilen MA, Arciero C, Pellegrin I, Ricard S; FinnGen; Scelo G, Banks RE, Vasudev NS, Soomro N, Stewart GD, Adeyoju A, Bromage S, Hrouda D, Gibbons N, Patel P, Sullivan M, Protheroe A, Nugent FI, Fournier MJ, Zhang X, Martin LJ, Komisarenko M, Eisen T, Cunningham SA, Connolly DC, Uzzo RG, Zaridze D, Mukeria A, Holcatova I, Hornakova A, Foretova L, Janout V, Mates D, Jinga V, Rascu S, Mijuskovic M, Savic S, Milosavljevic S, Gaborieau V, Abedi-Ardekani B, McKay J, Johansson M, Phouthavongsy L, Hayman L, Li J, Lungu I, Bezerra SM, Souza AG, Sares CTG, Reis RB, Gallucci FP, Cordeiro MD, Pomerantz M, Lee GM, Freedman ML, Jeong A, … See abstract for full author list ➔ Purdue MP, et al. Among authors: manning mr. Nat Genet. 2024 Apr 26. doi: 10.1038/s41588-024-01725-7. Online ahead of print. Nat Genet. 2024. PMID: 38671320
In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees.
Pemov A, Pathak A, Jones SJ, Dewan R, Merberg J, Karra S, Kim J, Arons E, Ravichandran S, Luke BT, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; Dyer MJS, Lynch HT, Greene MH, Caporaso NE, Kreitman RJ, Goldin LR, Spinelli JJ, Brooks-Wilson A, McMaster ML, Stewart DR. Pemov A, et al. Leukemia. 2020 Jul;34(7):1934-1938. doi: 10.1038/s41375-019-0702-7. Epub 2020 Jan 28. Leukemia. 2020. PMID: 31992839 Free PMC article. No abstract available.
IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.
Prokunina-Olsson L, Morrison RD, Obajemu A, Mahamar A, Kim S, Attaher O, Florez-Vargas O, Sidibe Y, Onabajo OO, Hutchinson AA, Manning M, Kwan J, Brand N, Dicko A, Fried M, Albert PS, Mbulaiteye SM, Duffy PE. Prokunina-Olsson L, et al. Among authors: manning m. Genes Immun. 2021 May;22(1):44-55. doi: 10.1038/s41435-021-00127-7. Epub 2021 Apr 13. Genes Immun. 2021. PMID: 33850301 Free PMC article.
Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.
Hong HG, Gouveia MH, Ogwang MD, Kerchan P, Reynolds SJ, Tenge CN, Were PA, Kuremu RT, Wekesa WN, Masalu N, Kawira E, Kinyera T, Wang X, Zhou J, Leal TP, Otim I, Legason ID, Nabalende H, Dhudha H, Mumia M, Baker FS, Okusolubo T, Ayers LW, Bhatia K, Goedert JJ, Woo J, Manning M, Cole N, Luo W, Hicks B, Chagaluka G, Johnston WT, Mutalima N, Borgstein E, Liomba GN, Kamiza S, Mkandawire N, Mitambo C, Molyneux EM, Newton R, Hutchinson A, Yeager M, Adeyemo AA, Thein SL, Rotimi CN, Chanock SJ, Prokunina-Olsson L, Mbulaiteye SM. Hong HG, et al. Among authors: manning m. Am J Hematol. 2024 Jan;99(1):113-123. doi: 10.1002/ajh.27149. Epub 2023 Nov 27. Am J Hematol. 2024. PMID: 38009642
1,102 results