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: BRCA1: 5406+2T>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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: 5406+2T>C

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

International Journal Of Molecular Sciences

Esposito, Maria Valeria MV; Nunziato, Marcella M; Starnone, Flavio F; Telese, Antonella A; Calabrese, Alessandra A; D'Aiuto, Giuseppe G; Pucci, Pietro P; D'Aiuto, Massimiliano M; Baralle, Francisco F; D'Argenio, Valeria V; Salvatore, Francesco F

Publication Date: 2016-12-21

Variant appearance in text: BRCA1: 5406+2T>C

PubMed Link: 28009814

Variant Present in the following documents:

• Main text
• ijms-17-02145.pdf

View BVdb publication page