Publications:

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

Npj Genomic Medicine

Horton, Carolyn C; Cass, Ashley A; Conner, Blair R BR; Hoang, Lily L; Zimmermann, Heather H; Abualkheir, Nelly N; Burks, David D; Qian, Dajun D; Molparia, Bhuvan B; Vuong, Huy H; LaDuca, Holly H; Grzybowski, Jessica J; Durda, Kate K; Pilarski, Robert R; Profato, Jessica J; Clayback, Katherine K; Mahoney, Martin M; Schroeder, Courtney C; Torres-Martinez, Wilfredo W; Elliott, Aaron A; Chao, Elizabeth C EC; Karam, Rachid R

Publication Date: 2022-08-25

Variant appearance in text: ATM: 2466+1552G>C

PubMed Link: 36008414

Variant Present in the following documents:

• 41525_2022_323_MOESM1_ESM.pdf

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: ATM: 2466+1552G>C

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Cancers

Moles-Fernández, Alejandro A; Domènech-Vivó, Joanna J; Tenés, Anna A; Balmaña, Judith J; Diez, Orland O; Gutiérrez-Enríquez, Sara S

Publication Date: 2021-07-03

Variant appearance in text: ATM: 2466+1552G>C

PubMed Link: 34283047

Variant Present in the following documents:

• Main text
• cancers-13-03341.pdf

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