Publications:

---

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported.

International Journal Of Molecular Sciences

Torres-Juan, Laura L; Rico, Yolanda Y; Fortuny, Elena E; Pons, Jaume J; Ramos, Rafael R; Santos-Simarro, Fernando F; Asensio, Víctor V; Martinez, Iciar I; Heine-Suñer, Damian D

Publication Date: 2023-05-12

Variant appearance in text: NOTCH1: 844C>T; Arg282Cys

PubMed Link: 37239988

Variant Present in the following documents:

• Main text
• ijms-24-08644.pdf

View BVdb publication page

---

A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues.

Scientific Reports

Luijts, Tom T; Elliott, Kerryn K; Siaw, Joachim Tetteh JT; Van de Velde, Joris J; Beyls, Elien E; Claeys, Arne A; Lammens, Tim T; Larsson, Erik E; Willaert, Wouter W; Vral, Anne A; Van den Eynden, Jimmy J

Publication Date: 2022-06-20

Variant appearance in text: NOTCH1: R282C

PubMed Link: 35725896

Variant Present in the following documents:

• 41598_2022_14240_MOESM2_ESM.xls, sheet 2

View BVdb publication page

---

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: NOTCH1: 844C>T; R282C

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Time to first treatment and P53 dysfunction in chronic lymphocytic leukaemia: results of the O-CLL1 study in early stage patients.

Scientific Reports

Monti, Paola P; Lionetti, Marta M; De Luca, Giuseppa G; Menichini, Paola P; Recchia, Anna Grazia AG; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Speciale, Andrea A; Barbieri, Marzia M; Gentile, Massimo M; Zupo, Simonetta S; Dono, Mariella M; Ibatici, Adalberto A; Neri, Antonino A; Ferrarini, Manlio M; Fais, Franco F; Fronza, Gilberto G; Cutrona, Giovanna G; Morabito, Fortunato F

Publication Date: 2020-10-28

Variant appearance in text: NOTCH1: 844C>T

PubMed Link: 33116240

Variant Present in the following documents:

• Main text
• 41598_2020_Article_75364.pdf

View BVdb publication page

---

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: NOTCH1: Arg282Cys

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: R282C

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

---

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Nature Communications

Findlay, John M JM; Castro-Giner, Francesc F; Makino, Seiko S; Rayner, Emily E; Kartsonaki, Christiana C; Cross, William W; Kovac, Michal M; Ulahannan, Danny D; Palles, Claire C; Gillies, Richard S RS; MacGregor, Thomas P TP; Church, David D; Maynard, Nicholas D ND; Buffa, Francesca F; Cazier, Jean-Baptiste JB; Graham, Trevor A TA; Wang, Lai-Mun LM; Sharma, Ricky A RA; Middleton, Mark M; Tomlinson, Ian I

Publication Date: 2016-04-05

Variant appearance in text: NOTCH1: 844C>T; Arg282Trp

PubMed Link: 27045317

Variant Present in the following documents:

• ncomms11111-s1.pdf

View BVdb publication page

---

HER2 as a novel therapeutic target for cervical cancer.

Oncotarget

Oh, Doo-Yi DY; Kim, Seokhwi S; Choi, Yoon-La YL; Cho, Young Jae YJ; Oh, Ensel E; Choi, Jung-Joo JJ; Jung, Kyungsoo K; Song, Ji-Young JY; Ahn, Suzie E SE; Kim, Byoung-Gie BG; Bae, Duk-Soo DS; Park, Woong-Yang WY; Lee, Jeong-Won JW; Song, Sangyong S

Publication Date: 2015-11-03

Variant appearance in text: NOTCH1: R282C

PubMed Link: 26435481

Variant Present in the following documents:

• oncotarget-06-36219-s001.pdf

View BVdb publication page

---