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: JAG1: 2473C>T; Gln825Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.

Investigative Ophthalmology & Visual Science

da Palma, Mariana Matioli MM; Igelman, Austin D AD; Ku, Cristy C; Burr, Amanda A; You, Jia Yue JY; Place, Emily M EM; Wang, Nan-Kai NK; Oh, Jin Kyun JK; Branham, Kari E KE; Zhang, Xinxin X; Ahn, Jeeyun J; Gorin, Michael B MB; Lam, Byron L BL; Ronquillo, Cecinio C CC; Bernstein, Paul S PS; Nagiel, Aaron A; Huckfeldt, Rachel R; Cabrera, Michelle T MT; Kelly, John P JP; Bakall, Benjamin B; Iannaccone, Alessandro A; Hufnagel, Robert B RB; Zein, Wadih M WM; Koenekoop, Robert K RK; Birch, David G DG; Yang, Paul P; Fahim, Abigail T AT; Pennesi, Mark E ME

Publication Date: 2021-06-01

Variant appearance in text: JAG1: 2473C>T; Gln825*

PubMed Link: 34185059

Variant Present in the following documents:

• Main text
• iovs-62-7-27.pdf

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: JAG1: 2473C>T; Gln825*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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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: JAG1: Gln825*

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

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JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

Plos One

Li, Liting L; Dong, Jibin J; Wang, Xiaohong X; Guo, Hongmei H; Wang, Huijun H; Zhao, Jing J; Qiu, Yiling Y; Abuduxikuer, Kuerbanjiang K; Wang, Jianshe J

Publication Date: 2015

Variant appearance in text: JAG1: 2473C>T; Q825X

PubMed Link: 26076142

Variant Present in the following documents:

• Main text
• pone.0130355.pdf

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