Publications:

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The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Frontiers In Pediatrics

Alotibi, Raniah S RS; Sannan, Naif S NS; AlEissa, Mariam M; Aldriwesh, Marwh G MG; Al Tuwaijri, Abeer A; Akiel, Maaged A MA; Almutairi, Mashael M; Alsamer, Alhanouf A; Altharawi, Nouf N; Aljawfan, Ghadah G; Alotiabi, Badi B; AlBlawi, Mohammed A MA; Alfares, Ahmed A

Publication Date: 2023

Variant appearance in text: ATM: 381del; Val128Ter

PubMed Link: 36937954

Variant Present in the following documents:

• fped-11-1133789.pdf
• Datasheet1.pdf

View BVdb publication page

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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: 381del; rs587781831

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ATM: 381del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 381del; Val128Ter; rs587781831

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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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: ATM: 381delA; V128*

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: ATM: 381delA; Val128*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 381delA; Val128Terfs; rs587781831

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.

Neurogenetics

Shalash, Ali S AS; Rösler, Thomas W TW; Salama, Mohamed M; Pendziwiat, Manuela M; Müller, Stefanie H SH; Hopfner, Franziska F; Höglinger, Günter U GU; Kuhlenbäumer, Gregor G

Publication Date: 2021-05

Variant appearance in text: ATM: 381del; V128*; rs587781831

PubMed Link: 33779842

Variant Present in the following documents:

• Main text
• 10048_2021_Article_639.pdf

View BVdb publication page

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Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Biomedicines

Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z

Publication Date: 2020-10-09

Variant appearance in text: ATM: 381delA; V128*

PubMed Link: 33050356

Variant Present in the following documents:

• Main text
• biomedicines-08-00404.pdf

View BVdb publication page

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TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical And Experimental Immunology

Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A

Publication Date: 2020-10

Variant appearance in text: ATM: 381delA; V128X

PubMed Link: 32691468

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Frontiers In Immunology

Al-Herz, Waleed W; Chou, Janet J; Delmonte, Ottavia Maria OM; Massaad, Michel J MJ; Bainter, Wayne W; Castagnoli, Riccardo R; Klein, Christoph C; Bryceson, Yenan T YT; Geha, Raif S RS; Notarangelo, Luigi D LD

Publication Date: 2018

Variant appearance in text: ATM: 381delA

PubMed Link: 30697212

Variant Present in the following documents:

• Main text
• fimmu-09-03146.pdf

View BVdb publication page

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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Genes

Mustafa, Abeer E AE; Faquih, Tariq T; Baz, Batoul B; Kattan, Rana R; Al-Issa, Abdulelah A; Tahir, Asma I AI; Imtiaz, Faiqa F; Ramzan, Khushnooda K; Al-Sayed, Moeenaldeen M; Alowain, Mohammed M; Al-Hassnan, Zuhair Z; Al-Zaidan, Hamad H; Abouelhoda, Mohamed M; Al-Mubarak, Bashayer R BR; Al Tassan, Nada A NA

Publication Date: 2018-05-22

Variant appearance in text: ATM: 381_381delA; V128*

PubMed Link: 29789446

Variant Present in the following documents:

• Main text
• genes-09-00267.pdf

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 381_381delA; Val128*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: ATM: 381delA

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Molecular Genetics & Genomic Medicine

Podralska, Marta Joanna MJ; Stembalska, Agnieszka A; Ślęzak, Ryszard R; Lewandowicz-Uszyńska, Aleksandra A; Pietrucha, Barbara B; Kołtan, Sylwia S; Wigowska-Sowińska, Jadwiga J; Pilch, Jacek J; Mosor, Maria M; Ziółkowska-Suchanek, Iwona I; Dzikiewicz-Krawczyk, Agnieszka A; Słomski, Ryszard R

Publication Date: 2014-11

Variant appearance in text: ATM: 381_381delA

PubMed Link: 25614872

Variant Present in the following documents:

• Main text
• mgg30002-0504.pdf

View BVdb publication page

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Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Plos One

Moens, Lotte N LN; Falk-Sörqvist, Elin E; Asplund, A Charlotta AC; Bernatowska, Ewa E; Smith, C I Edvard CI; Nilsson, Mats M

Publication Date: 2014

Variant appearance in text: ATM: 381delA

PubMed Link: 25502423

Variant Present in the following documents:

• Main text

View BVdb publication page

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