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
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
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; ,
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05
Variant appearance in text: MLH1: T66T; rs61751642
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: MLH1: T66T; rs61751642
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
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
Human Mutation
Arnold, Sven S; Buchanan, Daniel D DD; Barker, Melissa M; Jaskowski, Lesley L; Walsh, Michael D MD; Birney, Genevieve G; Woods, Michael O MO; Hopper, John L JL; Jenkins, Mark A MA; Brown, Melissa A MA; Tavtigian, Sean V SV; Goldgar, David E DE; Young, Joanne P JP; Spurdle, Amanda B AB
Publication Date: 2009-05
Variant appearance in text: MLH1: 198C>T; Thr66Thr