Publications:

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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: 5965G>A; Asp1989Asn; rs587777734

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

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The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine

Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2020-02-17

Variant appearance in text: NOTCH1: D1989N

PubMed Link: 32066498

Variant Present in the following documents:

• Main text
• 13073_2020_Article_714.pdf

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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human Mutation

Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W

Publication Date: 2018-09

Variant appearance in text: NOTCH1: 5965G>A; Asp1989Asn

PubMed Link: 29924900

Variant Present in the following documents:

• Main text
• HUMU-39-1246.pdf
• HUMU-39-1246-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: NOTCH1: 5965G>A; Asp1989Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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EOGT and O-GlcNAc on secreted and membrane proteins.

Biochemical Society Transactions

Varshney, Shweta S; Stanley, Pamela P

Publication Date: 2017-04-15

Variant appearance in text: NOTCH1: D1989N

PubMed Link: 28408480

Variant Present in the following documents:

• Main text

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The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Oncotarget

Zhang, Rui R; Ding, Jiansheng J; Han, Yanxi Y; Yi, Lang L; Xie, Jiehong J; Yang, Xin X; Fan, Gaowei G; Wang, Guojing G; Hao, Mingju M; Zhang, Dong D; Zhang, Kuo K; Lin, Guigao G; Li, Jinming J

Publication Date: 2016-09-06

Variant appearance in text: NOTCH1: 5965G>A; Asp1989Asn

PubMed Link: 27542269

Variant Present in the following documents:

• Main text
• oncotarget-07-58500.pdf

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Mutations in NOTCH1 cause Adams-Oliver syndrome.

American Journal Of Human Genetics

Stittrich, Anna-Barbara AB; Lehman, Anna A; Bodian, Dale L DL; Ashworth, Justin J; Zong, Zheyuan Z; Li, Hong H; Lam, Patricia P; Khromykh, Alina A; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Baveja, Rajiv R; Silva, Ermelinda Santos ES; Dixon, Joanne J; Leon, Eyby L EL; Solomon, Benjamin D BD; Glusman, Gustavo G; Niederhuber, John E JE; Roach, Jared C JC; Patel, Millan S MS

Publication Date: 2014-09-04

Variant appearance in text: NOTCH1: 5965G>A; Asp1989Asn

PubMed Link: 25132448

Variant Present in the following documents:

• Main text

View BVdb publication page

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