Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NOTCH1: P2122L

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)

Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP

Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 6365C>T; Pro2122Leu; rs767587816

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

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Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular Genetics & Genomic Medicine

Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK

Publication Date: 2020-10

Variant appearance in text: NOTCH1: Pro2122Leu

PubMed Link: 32748548

Variant Present in the following documents:

• Main text
• MGG3-8-e1406.pdf

View BVdb publication page

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The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report.

Bmc Medical Genetics

Bai, Bo B; Zhang, Meng M; Zhuang, Yihao Y; Zhu, Jirong J; Li, Wenjing W; Ma, Wei W; Chen, Haibo H

Publication Date: 2020-06-01

Variant appearance in text: NOTCH1: Pro2122Leu

PubMed Link: 32487031

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1058.pdf

View BVdb publication page

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NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries.

Frontiers In Neurology

Guevara, Carlos C; Farias, Gonzalo G; Bulatova, Kateryna K; Alarcón, Pablo P; Soruco, Wendy W; Robles, Carlos C; Morales, Marcelo M

Publication Date: 2017

Variant appearance in text: NOTCH1: 6365C>T; Pro2122Leu

PubMed Link: 28649221

Variant Present in the following documents:

• Main text
• fneur-08-00245.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: NOTCH1: P2122L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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