Publications:

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: MLH1: 306+1G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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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: MLH1: 306+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MLH1: 306+1G>A

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.

Obstetrics And Gynecology International

Ueda, Mako M; Tsubamoto, Hiroshi H; Kashima-Morii, Mina M; Torii, Yoshitaka Y; Kamihigashi, Mariko M; Wakimoto, Yu Y; Nakagomi, Nami N; Hashimoto-Tamaoki, Tomoko T; Sawai, Hideaki H; Shibahara, Hiroaki H

Publication Date: 2019

Variant appearance in text: MLH1: 306+1G>A; rs267607734

PubMed Link: 31263500

Variant Present in the following documents:

• Main text
• OGI2019-4365754.pdf

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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MLH1: 306+1G>A

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

View BVdb publication page