Publications:

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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: 110T>C; Leu37Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.

Translational Gastroenterology And Hepatology

Gilbert, Melissa A MA; Loomes, Kathleen M KM

Publication Date: 2021

Variant appearance in text: JAG1: L37S

PubMed Link: 33824926

Variant Present in the following documents:

• Main text

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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: JAG1: 110T>C; Leu37Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: Leu37Ser

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197-s001.pdf
• HUMU-40-2197.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: JAG1: L37S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Human Mutation

Bauer, Robert C RC; Laney, Ayanna O AO; Smith, Rosemarie R; Gerfen, Jennifer J; Morrissette, Jennifer J D JJ; Woyciechowski, Stacy S; Garbarini, Jennifer J; Loomes, Kathleen M KM; Krantz, Ian D ID; Urban, Zsolt Z; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Spinner, Nancy B NB

Publication Date: 2010-05

Variant appearance in text: JAG1: L37S

PubMed Link: 20437614

Variant Present in the following documents:

• Main text

View BVdb publication page

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Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.

American Journal Of Human Genetics

Lu, Fengmin F; Morrissette, Jennifer J D JJ; Spinner, Nancy B NB

Publication Date: 2003-04

Variant appearance in text: JAG1: L37S

PubMed Link: 12649809

Variant Present in the following documents:

• Main text

View BVdb publication page

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