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

586 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
McMaster ML, Sun C, Landi MT, Savage SA, Rotunno M, Yang XR, Jones K, Vogt A, Hutchinson A, Zhu B, Wang M, Hicks B, Thirunavukarason A, Stewart DR, Koutros S, Goldstein AM, Chanock SJ, Caporaso NE, Tucker MA, Goldin LR, Liu Y. McMaster ML, et al. Among authors: goldstein am. Br J Haematol. 2018 May;181(3):372-377. doi: 10.1111/bjh.15203. Br J Haematol. 2018. PMID: 29693246 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: goldstein am. Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5. Genome Med. 2018. PMID: 30583724 Free PMC article.
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.
Pastorino L, Andreotti V, Dalmasso B, Vanni I, Ciccarese G, Mandalà M, Spadola G, Pizzichetta MA, Ponti G, Tibiletti MG, Sala E, Genuardi M, Chiurazzi P, Maccanti G, Manoukian S, Sestini S, Danesi R, Zampiga V, La Starza R, Stanganelli I, Ballestrero A, Mastracci L, Grillo F, Sciallero S, Cecchi F, Tanda ET, Spagnolo F, Queirolo P, Italian Melanoma Intergroup (IMI), Goldstein AM, Bruno W, Ghiorzo P. Pastorino L, et al. Among authors: goldstein am. Cancers (Basel). 2020 Apr 19;12(4):1007. doi: 10.3390/cancers12041007. Cancers (Basel). 2020. PMID: 32325837 Free PMC article.
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.
Yepes S, Shah NN, Bai J, Koka H, Li C, Gui S, McMaster ML, Xiao Y, Jones K, Wang M, Vogt A, Zhu B, Zhu B, Hutchinson A, Yeager M, Hicks B, Carter B, Freedman ND, Beane-Freeman L, Chanock SJ, Zhang Y, Parry DM, Yang XR, Goldstein AM. Yepes S, et al. Among authors: goldstein am. Cancers (Basel). 2021 May 30;13(11):2704. doi: 10.3390/cancers13112704. Cancers (Basel). 2021. PMID: 34070849 Free PMC article.
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Brown KM, Xu M, Sargen M, Jang H, Zhang M, Zhang T, Zhu B, Jones K, Kim J, Mendoza L, Hayward NK, Tucker MA, Goldstein AM, Yang XR, Stewart DR, Hicks B, Consonni D, Pesatori AC, Fargnoli MC, Peris K, Stratigos A, Menin C, Ghiorzo P, Puig S, Nagore E; MelaNostrum Consortium; Andresson T, Nussinov R, Calista D, Landi MT. Brown KM, et al. Among authors: goldstein am. Fam Cancer. 2022 Jul;21(3):347-355. doi: 10.1007/s10689-021-00267-9. Epub 2021 Jul 3. Fam Cancer. 2022. PMID: 34215961 Free PMC article.
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: goldstein am. 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.
Inflated expectations: Rare-variant association analysis using public controls.
Kim J, Karyadi DM, Hartley SW, Zhu B, Wang M, Wu D, Song L, Armstrong GT, Bhatia S, Robison LL, Yasui Y, Carter B, Sampson JN, Freedman ND, Goldstein AM, Mirabello L, Chanock SJ, Morton LM, Savage SA, Stewart DR. Kim J, et al. Among authors: goldstein am. PLoS One. 2023 Jan 25;18(1):e0280951. doi: 10.1371/journal.pone.0280951. eCollection 2023. PLoS One. 2023. PMID: 36696392 Free PMC article.
586 results