Publications:

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: NOTCH1: 3001G>A; rs763621169

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Molecular alterations in basal cell carcinoma subtypes.

Scientific Reports

Di Nardo, Lucia L; Pellegrini, Cristina C; Di Stefani, Alessandro A; Ricci, Francesco F; Fossati, Barbara B; Del Regno, Laura L; Carbone, Carmine C; Piro, Geny G; Corbo, Vincenzo V; Delfino, Pietro P; De Summa, Simona S; Maturo, Maria Giovanna MG; Rocco, Tea T; Tortora, Giampaolo G; Fargnoli, Maria Concetta MC; Peris, Ketty K

Publication Date: 2021-06-24

Variant appearance in text: NOTCH1: 3001G>A; Gly1001Arg

PubMed Link: 34168209

Variant Present in the following documents:

• 41598_2021_92592_MOESM4_ESM.xlsx, sheet 1

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: G1001S

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page