Publications:

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: 884+3A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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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: 884+3A>G

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Npj Precision Oncology

Landrith, Tyler T; Li, Bing B; Cass, Ashley A AA; Conner, Blair R BR; LaDuca, Holly H; McKenna, Danielle B DB; Maxwell, Kara N KN; Domchek, Susan S; Morman, Nichole A NA; Heinlen, Christopher C; Wham, Deborah D; Koptiuch, Cathryn C; Vagher, Jennie J; Rivera, Ragene R; Bunnell, Ann A; Patel, Gayle G; Geurts, Jennifer L JL; Depas, Morgan M MM; Gaonkar, Shraddha S; Pirzadeh-Miller, Sara S; Krukenberg, Rebekah R; Seidel, Meredith M; Pilarski, Robert R; Farmer, Meagan M; Pyrtel, Khateriaa K; Milliron, Kara K; Lee, John J; Hoodfar, Elizabeth E; Nathan, Deepika D; Ganzak, Amanda C AC; Wu, Sitao S; Vuong, Huy H; Xu, Dong D; Arulmoli, Aarani A; Parra, Melissa M; Hoang, Lily L; Molparia, Bhuvan B; Fennessy, Michele M; Fox, Susanne S; Charpentier, Sinead S; Burdette, Julia J; Pesaran, Tina T; Profato, Jessica J; Smith, Brandon B; Haynes, Ginger G; Dalton, Emily E; Crandall, Joy Rae-Radecki JR; Baxter, Ruth R; Lu, Hsiao-Mei HM; Tippin-Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E; Karam, Rachid R

Publication Date: 2020

Variant appearance in text: MLH1: 884+3A>G

PubMed Link: 32133419

Variant Present in the following documents:

• 41698_2020_109_MOESM1_ESM.pdf
• 41698_2020_Article_109.pdf

View BVdb publication page

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: MLH1: 884+3A>G

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLH1: 884+3A>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page