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: 588+1G>T

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: 588+1G>T

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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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: 588+1G>T

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Balkan Medical Journal

Özdemir, Taha Reşid TR; Alan, Murat M; Sancı, Muzaffer M; Koç, Altuğ A

Publication Date: 2019-01-01

Variant appearance in text: MLH1: 588+1G>T

PubMed Link: 30238922

Variant Present in the following documents:

• Main text
• BMJ-36-37.pdf

View BVdb publication page

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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications

Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS

Publication Date: 2016-06-22

Variant appearance in text: MLH1: 588+1G>T

PubMed Link: 27329137

Variant Present in the following documents:

• ncomms11883-s1.pdf

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: 588+1G>T

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

View BVdb publication page

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Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.

Clinical Epigenetics

Sloane, Mathew A MA; Hesson, Luke B LB; Nunez, Andrea C AC; Thompson, Bryony A BA; Ward, Robyn L RL

Publication Date: 2014

Variant appearance in text: MLH1: 588+1G>T

PubMed Link: 25530820

Variant Present in the following documents:

• 13148_2014_Article_32.pdf

View BVdb publication page

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A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Human Mutation

Thompson, Bryony A BA; Goldgar, David E DE; Paterson, Carol C; Clendenning, Mark M; Walters, Rhiannon R; Arnold, Sven S; Parsons, Michael T MT; Michael D, Walsh W; Gallinger, Steven S; Haile, Robert W RW; Hopper, John L JL; Jenkins, Mark A MA; Lemarchand, Loic L; Lindor, Noralane M NM; Newcomb, Polly A PA; Thibodeau, Stephen N SN; , ; Young, Joanne P JP; Buchanan, Daniel D DD; Tavtigian, Sean V SV; Spurdle, Amanda B AB

Publication Date: 2013-01

Variant appearance in text: MLH1: 588+1G>T

PubMed Link: 22949379

Variant Present in the following documents:

• Main text

View BVdb publication page

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