Publications:

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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: 3206del; Pro1069fs

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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The natural history of ataxia-telangiectasia (A-T): A systematic review.

Plos One

Petley, Emily E; Yule, Alexander A; Alexander, Shaun S; Ojha, Shalini S; Whitehouse, William P WP

Publication Date: 2022

Variant appearance in text: ATM: 3206delC

PubMed Link: 35290391

Variant Present in the following documents:

• Main text

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: 3206delC; Pro1069Leufs

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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Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma.

Children (Basel, Switzerland)

Dörr, Jan R JR; Thorwarth, Anne A; Mizia-Malarz, Agnieszka A; Radke, Josefine J; Tietze, Anna A; Hernáiz-Driever, Pablo P; Horn, Denise D; Gratopp, Alexander A; Eggert, Angelika A; Deubzer, Hedwig E HE

Publication Date: 2021-06-02

Variant appearance in text: ATM: 3206delC; Pro1069Leufs*2

PubMed Link: 34199532

Variant Present in the following documents:

• Main text
• children-08-00469.pdf

View BVdb publication page

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Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.

Frontiers In Immunology

Bakhtiar, Shahrzad S; Woelke, Sandra S; Huenecke, Sabine S; Kieslich, Matthias M; Taylor, Alexander Malcolm AM; Schubert, Ralf R; Zielen, Stefan S; Bader, Peter P

Publication Date: 2018

Variant appearance in text: ATM: Pro1069Leufs

PubMed Link: 30420857

Variant Present in the following documents:

• Main text
• fimmu-09-02495.pdf

View BVdb publication page

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Treatment of Granulomas in Patients With Ataxia Telangiectasia.

Frontiers In Immunology

Woelke, Sandra S; Valesky, Eva E; Bakhtiar, Shahrzad S; Pommerening, Helena H; Pfeffermann, L M LM; Schubert, Ralf R; Zielen, Stefan S

Publication Date: 2018

Variant appearance in text: ATM: 3206delC

PubMed Link: 30279689

Variant Present in the following documents:

• Main text
• fimmu-09-02000.pdf

View BVdb publication page

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