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: 3801+1_3801+5del

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: 3801+1_3801+5del

PubMed Link: 34964038

Variant Present in the following documents:

• Main text
• hs9-6-e668.pdf

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: 3801+1_3801+5del

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.

European Journal Of Human Genetics : Ejhg

Jansen, Anne Ml AM; van der Klift, Heleen M HM; Roos, Marieke Ae MA; van Eendenburg, Jaap Dh JD; Tops, Carli Mj CM; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H; van Wezel, Tom T

Publication Date: 2018-08

Variant appearance in text: MSH6: 3801+1_3801+5del

PubMed Link: 29706640

Variant Present in the following documents:

• Main text

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