Publications:

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: MSH6: 3957dup; Ala1320fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.

Hemasphere

Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC

Publication Date: 2022-01

Variant appearance in text: MSH6: 3957dup; Ala1320Serfs*5

PubMed Link: 34964038

Variant Present in the following documents:

• Main text
• hs9-6-e668.pdf

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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: MSH6: 3957dup; Ala1320Serfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.

Frontiers In Immunology

IJspeert, Hanna H; van Schouwenburg, Pauline A PA; Pico-Knijnenburg, Ingrid I; Loeffen, Jan J; Brugieres, Laurence L; Driessen, Gertjan J GJ; Blattmann, Claudia C; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Seidel, Marcus G MG; Jacobs, Heinz H; van der Burg, Mirjam M

Publication Date: 2019

Variant appearance in text: MSH6: 3957dupA; A1320SfsX5

PubMed Link: 31507588

Variant Present in the following documents:

• Main text
• fimmu-10-01913.pdf

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Clinical Features and Therapeutic Outcomes in Men with Advanced Prostate Cancer and DNA Mismatch Repair Gene Mutations.

European Urology

Antonarakis, Emmanuel S ES; Shaukat, Farah F; Isaacsson Velho, Pedro P; Kaur, Harsimar H; Shenderov, Eugene E; Pardoll, Drew M DM; Lotan, Tamara L TL

Publication Date: 2019-03

Variant appearance in text: MSH6: A1320Sfs*5

PubMed Link: 30337059

Variant Present in the following documents:

• Main text

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