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
RosettaDDGPrediction for high-throughput mutational scans: from stability to binding.
Protein Science : A Publication Of The Protein Society
Sora, Valentina V; Otamendi Laspiur, Adrian A; Degn, Kristine K; Arnaudi, Matteo M; Utichi, Mattia M; Beltrame, Ludovica L; De Menezes, Dayana D; Orlandi, Matteo M; Stoltze, Ulrik Kristoffer UK; Rigina, Olga O; Sackett, Peter Wad PW; Wadt, Karin K; Schmiegelow, Kjeld K; Tiberti, Matteo M; Papaleo, Elena E
A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.
Acr Open Rheumatology
Meas, Rithy R; Nititham, Joanne J; Taylor, Kimberly E KE; Maher, Stephen S; Clairmont, Kaylyn K; Carufe, Kelly E W KEW; Kashgarian, Michael M; Nottoli, Timothy T; Cheong, Ana A; Nagel, Zachary D ZD; Gaffney, Patrick M PM; Criswell, Lindsey A LA; Sweasy, Joann B JB
Publication Date: 2022-09
Variant appearance in text: MSH6: Ser503Cys; rs63750897
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: MSH6: 1508C>G; Ser503Cys; rs63750897
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: MSH6: 1508C>G; Ser503Cys
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: MSH6: 1508C>G; S503C; rs63750897
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: MSH6: 1508C>G; Ser503Cys; rs63750897
Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.
Scientific Reports
Borad, Mitesh J MJ; Egan, Jan B JB; Condjella, Rachel M RM; Liang, Winnie S WS; Fonseca, Rafael R; Ritacca, Nicole R NR; McCullough, Ann E AE; Barrett, Michael T MT; Hunt, Katherine S KS; Champion, Mia D MD; Patel, Maitray D MD; Young, Scott W SW; Silva, Alvin C AC; Ho, Thai H TH; Halfdanarson, Thorvardur R TR; McWilliams, Robert R RR; Lazaridis, Konstantinos N KN; Ramanathan, Ramesh K RK; Baker, Angela A; Aldrich, Jessica J; Kurdoglu, Ahmet A; Izatt, Tyler T; Christoforides, Alexis A; Cherni, Irene I; Nasser, Sara S; Reiman, Rebecca R; Cuyugan, Lori L; McDonald, Jacquelyn J; Adkins, Jonathan J; Mastrian, Stephen D SD; Valdez, Riccardo R; Jaroszewski, Dawn E DE; Von Hoff, Daniel D DD; Craig, David W DW; Stewart, A Keith AK; Carpten, John D JD; Bryce, Alan H AH
Publication Date: 2016-12-23
Variant appearance in text: MSH6: 1508C>G; Ser503Cys
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Publication Date: 2015-09-16
Variant appearance in text: MSH6: S503C; rs63750897
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: MSH6: S503C; rs63750897
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L