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: NOTCH2: 1117T>C; Cys373Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NOTCH2: 1117T>C; Cys373Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Notch Signaling in Kidney Development, Maintenance, and Disease.

Biomolecules

Mukherjee, Malini M; Fogarty, Eric E; Janga, Madhusudhana M; Surendran, Kameswaran K

Publication Date: 2019-11-04

Variant appearance in text: NOTCH2: Cys373Arg

PubMed Link: 31690016

Variant Present in the following documents:

• Main text
• biomolecules-09-00692.pdf

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: NOTCH2: Cys373Arg

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

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NOTCH2 mutations in Alagille syndrome.

Journal Of Medical Genetics

Kamath, Binita Maya BM; Bauer, Robert C RC; Loomes, Kathleen M KM; Chao, Grace G; Gerfen, Jennifer J; Hutchinson, Anne A; Hardikar, Winita W; Hirschfield, Gideon G; Jara, Paloma P; Krantz, Ian D ID; Lapunzina, Pablo P; Leonard, Laura L; Ling, Simon S; Ng, Vicky Lee VL; Hoang, Phuc Le PL; Piccoli, David A DA; Spinner, Nancy Bettina NB

Publication Date: 2012-02

Variant appearance in text:

PubMed Link: 22209762

Variant Present in the following documents:

• Main text

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