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Page 1
Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung H, Hyland PL, Pemov A, Sabourin JA, Baldwin AM, Bass S, Teshome K, Luo W; Frederick National Laboratory for Cancer Research; Widemann BC, Stewart DR, Wilson AF. Sung H, et al. Among authors: luo w. Mol Genet Genomic Med. 2020 Oct;8(10):e1400. doi: 10.1002/mgg3.1400. Epub 2020 Aug 31. Mol Genet Genomic Med. 2020. PMID: 32869517 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.
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Burris AM, et al. Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26810774 Free PMC article.
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR. Kim J, et al. Among authors: luo w. Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5. Genome Med. 2018. PMID: 30583724 Free PMC article.
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.
Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility.
Gouveia MH, Otim I, Ogwang MD, Wang M, Zhu B, Cole N, Luo W, Hicks B, Jones K, Oehl-Huber K, Ayers LW, Pittaluga S, Legason ID, Nabalende H, Kerchan P, Kinyera T, Kawira E, Brubaker G, Levin AG, Guertler L, Kim J, Stewart DR, Adde M, Magrath I, Bergen AW, Reynolds SJ, Yeager M, Bhatia K, Adeyemo AA, Prokunina-Olsson L, Dean M, Shriner D, Rotimi CN, Chanock S, Siebert R, Mbulaiteye SM. Gouveia MH, et al. Among authors: luo w. Leukemia. 2021 Apr;35(4):1209-1213. doi: 10.1038/s41375-020-01052-w. Epub 2020 Oct 13. Leukemia. 2021. PMID: 33051549 Free PMC article. No abstract available.
Author Correction to: Endemic Burkitt lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility.
Gouveia MH, Otim I, Ogwang MD, Wang M, Zhu B, Cole N, Luo W, Hicks B, Jones K, Oehl-Huber K, Ayers LW, Pittaluga S, Legason ID, Nabalende H, Kerchan P, Kinyera T, Kawira E, Brubaker G, Levin AG, Guertler L, Kim J, Stewart DR, Adde M, Magrath I, Bergen AW, Reynolds SJ, Yeager M, Bhatia K, Adeyemo AA, Prokunina-Olsson L, Dean M, Shriner D, Rotimi CN, Chanock S, Siebert R, Mbulaiteye SM. Gouveia MH, et al. Among authors: luo w. Leukemia. 2021 Apr;35(4):1224. doi: 10.1038/s41375-021-01140-5. Leukemia. 2021. PMID: 33526862 Free PMC article. No abstract available.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Kim J, et al. Among authors: luo w. JNCI Cancer Spectr. 2021 Jan 23;5(2):pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Apr. JNCI Cancer Spectr. 2021. PMID: 34308104 Free PMC article.
7,984 results