Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: ATM: 7630-2A>C; rs587779866

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 7630-2A>C; rs587779866

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS3.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1

View BVdb publication page

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Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Esai Selvan, Myvizhi M; Zauderer, Marjorie G MG; Rudin, Charles M CM; Jones, Siân S; Mukherjee, Semanti S; Offit, Kenneth K; Onel, Kenan K; Rennert, Gad G; Velculescu, Victor E VE; Lipkin, Steven M SM; Klein, Robert J RJ; Gümüş, Zeynep H ZH

Publication Date: 2020-12

Variant appearance in text: rs587779866

PubMed Link: 32866655

Variant Present in the following documents:

• Main text

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: ATM: 7630-2A>C; rs587779866

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s004.xlsx, sheet 4

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: ATM: 7630-2A>C; rs587779866

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A

Publication Date: 2018-11

Variant appearance in text: rs587779866

PubMed Link: 30293248

Variant Present in the following documents:

• Main text
• MGG3-6-1041.pdf

View BVdb publication page

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Integrative clinical genomics of metastatic cancer.

Nature

Robinson, Dan R DR; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Vats, Pankaj P; Cobain, Erin E; Everett, Jessica J; Cao, Xuhong X; Rabban, Erica E; Kumar-Sinha, Chandan C; Raymond, Victoria V; Schuetze, Scott S; Alva, Ajjai A; Siddiqui, Javed J; Chugh, Rashmi R; Worden, Francis F; Zalupski, Mark M MM; Innis, Jeffrey J; Mody, Rajen J RJ; Tomlins, Scott A SA; Lucas, David D; Baker, Laurence H LH; Ramnath, Nithya N; Schott, Ann F AF; Hayes, Daniel F DF; Vijai, Joseph J; Offit, Kenneth K; Stoffel, Elena M EM; Roberts, J Scott JS; Smith, David C DC; Kunju, Lakshmi P LP; Talpaz, Moshe M; Cieślik, Marcin M; Chinnaiyan, Arul M AM

Publication Date: 2017-08-17

Variant appearance in text: ATM: 7630-2A>C; rs587779866

PubMed Link: 28783718

Variant Present in the following documents:

• NIHMS888166-supplement-Supplementary_Tables.pdf

View BVdb publication page

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