Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NOTCH1: 2047G>A; Ala683Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Mafficini, Andrea A; Simbolo, Michele M; Shibata, Tatsuhiro T; Hong, Seung-Mo SM; Pea, Antonio A; Brosens, Lodewijk A LA; Cheng, Liang L; Antonello, Davide D; Sciammarella, Concetta C; Cantù, Cinzia C; Mattiolo, Paola P; Taormina, Sergio V SV; Malleo, Giuseppe G; Marchegiani, Giovanni G; Sereni, Elisabetta E; Corbo, Vincenzo V; Paolino, Gaetano G; Ciaparrone, Chiara C; Hiraoka, Nobuyoshi N; Pallaoro, Daniel D; Jansen, Casper C; Milella, Michele M; Salvia, Roberto R; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A; Luchini, Claudio C

Publication Date: 2022-12

Variant appearance in text: NOTCH1: A683T

PubMed Link: 36056133

Variant Present in the following documents:

• 41379_2022_1143_MOESM1_ESM.pdf

View BVdb publication page

---

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: 2047G>A; Ala683Thr; rs756434709

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

---

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: NOTCH1: 2047G>A; Ala683Thr; rs756434709

PubMed Link: 34691145

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

---

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Circulation Research

Page, Donna J DJ; Miossec, Matthieu J MJ; Williams, Simon G SG; Monaghan, Richard M RM; Fotiou, Elisavet E; Cordell, Heather J HJ; Sutcliffe, Louise L; Topf, Ana A; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert R; Dunwoodie, Sally L SL; Winlaw, David S DS; Bhattacharya, Shoumo S; Breckpot, Jeroen J; Devriendt, Koenraad K; Gewillig, Marc M; Brook, J David JD; Setchfield, Kerry J KJ; Bu'Lock, Frances A FA; O'Sullivan, John J; Stuart, Graham G; Bezzina, Connie R CR; Mulder, Barbara J M BJM; Postma, Alex V AV; Bentham, James R JR; Baron, Martin M; Bhaskar, Sanjeev S SS; Black, Graeme C GC; Newman, William G WG; Hentges, Kathryn E KE; Lathrop, G Mark GM; Santibanez-Koref, Mauro M; Keavney, Bernard D BD

Publication Date: 2019-02-15

Variant appearance in text: NOTCH1: A683T

PubMed Link: 30582441

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Genetic Epidemiology

Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR

Publication Date: 2019-03

Variant appearance in text: NOTCH1: Ala683Thr

PubMed Link: 30511478

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.

Biochimica Et Biophysica Acta

Riley, Maurisa F MF; McBride, Kim L KL; Cole, Susan E SE

Publication Date: 2011-01

Variant appearance in text: NOTCH1: A683T

PubMed Link: 20951801

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

Human Molecular Genetics

McBride, Kim L KL; Riley, Maurisa F MF; Zender, Gloria A GA; Fitzgerald-Butt, Sara M SM; Towbin, Jeffrey A JA; Belmont, John W JW; Cole, Susan E SE

Publication Date: 2008-09-15

Variant appearance in text: NOTCH1: A683T

PubMed Link: 18593716

Variant Present in the following documents:

• Main text

View BVdb publication page

---