Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: ATM: D2016G

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: 6047A>G; Asp2016Gly

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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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Medeniyet Medical Journal

Arslan Ates, Esra E; Turkyilmaz, Ayberk A; Alavanda, Ceren C; Yildirim, Ozlem O; Guney, Ahmet Ilter AI

Publication Date: 2022-06-23

Variant appearance in text: ATM: 6047A>G; Asp2016Gly

PubMed Link: 35734982

Variant Present in the following documents:

• medj-37-150.pdf

View BVdb publication page

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: ATM: D2016G

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Frontiers In Immunology

Blanchard-Rohner, Geraldine G; Peirolo, Anna A; Coulon, Ludivine L; Korff, Christian C; Horvath, Judit J; Burkhard, Pierre R PR; Gumy-Pause, Fabienne F; Ranza, Emmanuelle E; Jandus, Peter P; Dibra, Harpreet H; Taylor, Alexander Malcolm R AMR; Fluss, Joel J

Publication Date: 2022

Variant appearance in text: ATM: 6047A>G; Asp2016Gly

PubMed Link: 35154108

Variant Present in the following documents:

• Main text
• fimmu-13-791522.pdf

View BVdb publication page

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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Journal Of Clinical Immunology

Fang, Mingyan M; Su, Zheng Z; Abolhassani, Hassan H; Zhang, Wei W; Jiang, Chongyi C; Cheng, Bochen B; Luo, Lihua L; Wu, Jinghua J; Wang, Shiyu S; Lin, Liya L; Wang, Xie X; Wang, Longlong L; Aghamohammadi, Asghar A; Li, Tao T; Zhang, Xiuqing X; Hammarström, Lennart L; Liu, Xiao X

Publication Date: 2022-02

Variant appearance in text: ATM: Asp2016Gly

PubMed Link: 34825286

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1178.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: rs587781302

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Turkish Journal Of Medical Sciences

Tuğ Bozdoğan, Sevcan S; Büyükkurt, Selim S; Özer, Sinem S; Bişgin, Atıl A

Publication Date: 2021-04-30

Variant appearance in text: ATM: 6047A>G; D2016G

PubMed Link: 33197157

Variant Present in the following documents:

• turkjmedsci-51-657-sup001.pdf
• turkjmedsci-51-657.pdf

View BVdb publication page

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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Frontiers In Immunology

Strand, Janne J; Gul, Kiran Aftab KA; Erichsen, Hans Christian HC; Lundman, Emma E; Berge, Mona C MC; Trømborg, Anette K AK; Sørgjerd, Linda K LK; Ytre-Arne, Mari M; Hogner, Silje S; Halsne, Ruth R; Gaup, Hege Junita HJ; Osnes, Liv T LT; Kro, Grete A B GAB; Sorte, Hanne S HS; Mørkrid, Lars L; Rowe, Alexander D AD; Tangeraas, Trine T; Jørgensen, Jens V JV; Alme, Charlotte C; Bjørndalen, Trude E H TEH; Rønnestad, Arild E AE; Lang, Astri M AM; Rootwelt, Terje T; Buechner, Jochen J; Øverland, Torstein T; Abrahamsen, Tore G TG; Pettersen, Rolf D RD; Stray-Pedersen, Asbjørg A

Publication Date: 2020

Variant appearance in text: ATM: Asp2016Gly

PubMed Link: 32754152

Variant Present in the following documents:

• Main text
• fimmu-11-01417.pdf

View BVdb publication page

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Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.

Structure (London, England : 1993)

Yates, Luke A LA; Williams, Rhys M RM; Hailemariam, Sarem S; Ayala, Rafael R; Burgers, Peter P; Zhang, Xiaodong X

Publication Date: 2020-01-07

Variant appearance in text: ATM: D2016G

PubMed Link: 31740029

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ATM: 6047A>G; D2016G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ATM: D2016G

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ATM: 6047A>G; Asp2016Gly

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ATM: 6047A>G; Asp2016Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATM: D2016G

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: ATM: D2016G

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: ATM: 6047A>G; D2016G

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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: 6047A>G; Asp2016Gly

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATM: D2016G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood

Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS

Publication Date: 2014-08-28

Variant appearance in text: ATM: D2016G

PubMed Link: 24825865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E

Publication Date: 2014-11

Variant appearance in text: ATM: D2016G

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

View BVdb publication page

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Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: ATM: D2016G

PubMed Link: 22529920

Variant Present in the following documents:

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ATM: D2016G

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 3

View BVdb publication page

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Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Human Mutation

Mitui, M M; Nahas, S A SA; Du, L T LT; Yang, Z Z; Lai, C H CH; Nakamura, K K; Arroyo, S S; Scott, S S; Purayidom, A A; Concannon, P P; Lavin, M M; Gatti, R A RA

Publication Date: 2009-01

Variant appearance in text: ATM: 6047A>G; D2016G

PubMed Link: 18634022

Variant Present in the following documents:

• Main text

View BVdb publication page

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