Publications:

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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: 210_213del

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: MLH1: 210_213delAGAA

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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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: MLH1: 210_213delAGAA; Glu71Ilefs

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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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: 210_213del; Glu71IlefsTer20

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine

Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2016-03

Variant appearance in text: MLH1: 210_213del; Glu71Ilefs*20

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

View BVdb publication page

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Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.

Surgery Today

Shigeyasu, Kunitoshi K; Tanakaya, Kohji K; Nagasaka, Takeshi T; Aoki, Hideki H; Fujiwara, Toshiyoshi T; Sugano, Kokichi K; Ishikawa, Hideki H; Yoshida, Teruhiko T; Moriya, Yoshihiro Y; Furukawa, Yoichi Y; Goel, Ajay A; Takeuchi, Hitoshi H

Publication Date: 2014-10

Variant appearance in text: MLH1: 210_213delAGAA

PubMed Link: 23896635

Variant Present in the following documents:

• Main text
• 595_2013_Article_669.pdf

View BVdb publication page

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Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer.

Gut

De Felice, C C; Gentile, M M; Barducci, A A; Bellosi, A A; Parrini, S S; Chitano, G G; Latini, G G

Publication Date: 2006-10

Variant appearance in text: MLH1: 210_213delAGAA

PubMed Link: 16469792

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Journal Of Medical Genetics

McVety, S S; Li, L L; Gordon, P H PH; Chong, G G; Foulkes, W D WD

Publication Date: 2006-02

Variant appearance in text: MLH1: 210_213delAGAA

PubMed Link: 15923275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fordyce granules and hereditary non-polyposis colorectal cancer syndrome.

Gut

De Felice, C C; Parrini, S S; Chitano, G G; Gentile, M M; Dipaola, L L; Latini, G G

Publication Date: 2005-09

Variant appearance in text: MLH1: 210_213delAGAA

PubMed Link: 15879014

Variant Present in the following documents:

• Main text

View BVdb publication page

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