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
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.
Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
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; ,
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Cancers
Dámaso, Estela E; González-Acosta, Maribel M; Vargas-Parra, Gardenia G; Navarro, Matilde M; Balmaña, Judith J; Ramon Y Cajal, Teresa T; Tuset, Noemí N; Thompson, Bryony A BA; Marín, Fátima F; Fernández, Anna A; Gómez, Carolina C; Velasco, Àngela À; Solanes, Ares A; Iglesias, Sílvia S; Urgel, Gisela G; López, Consol C; Del Valle, Jesús J; Campos, Olga O; Santacana, Maria M; Matias-Guiu, Xavier X; Lázaro, Conxi C; Valle, Laura L; Brunet, Joan J; Pineda, Marta M; Capellá, Gabriel G
Publication Date: 2020-07-05
Variant appearance in text: MLH1: 25C>T; rs587779000