Publications:

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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: BRCA1: 5152+5G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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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: BRCA1: 5152+5G>T

PubMed Link: 32133419

Variant Present in the following documents:

• 41698_2020_109_MOESM1_ESM.pdf
• 41698_2020_Article_109.pdf

View BVdb publication page

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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

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

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA1: 5152+5G>T

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: BRCA1: 5152+5G>T

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5152+5G>T

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.

Frontiers In Oncology

Farber-Katz, Suzette S; Hsuan, Vickie V; Wu, Sitao S; Landrith, Tyler T; Vuong, Huy H; Xu, Dong D; Li, Bing B; Hoo, Jayne J; Lam, Stephanie S; Nashed, Sarah S; Toppmeyer, Deborah D; Gray, Phillip P; Haynes, Ginger G; Lu, Hsiao-Mei HM; Elliott, Aaron A; Tippin Davis, Brigette B; Karam, Rachid R

Publication Date: 2018

Variant appearance in text: BRCA1: 5152+5G>T

PubMed Link: 30101128

Variant Present in the following documents:

• Main text
• fonc-08-00286.pdf

View BVdb publication page

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