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
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: 1814A>C; Glu605Ala
Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.
Journal Of Experimental & Clinical Cancer Research : Cr
Zaravinos, Apostolos A; Roufas, Constantinos C; Nagara, Majdi M; de Lucas Moreno, Beatriz B; Oblovatskaya, Maria M; Efstathiades, Christodoulos C; Dimopoulos, Christos C; Ayiomamitis, Georgios D GD
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.
Epigenetics
Crucianelli, Francesca F; Tricarico, Rossella R; Turchetti, Daniela D; Gorelli, Greta G; Gensini, Francesca F; Sestini, Roberta R; Giunti, Laura L; Pedroni, Monica M; Ponz de Leon, Maurizio M; Civitelli, Serenella S; Genuardi, Maurizio M
Publication Date: 2014-10
Variant appearance in text: MLH1: 1814A>C; Glu605Ala