Publications:

---

Premature senescence of the liver in Alagille patients.

Plos One

Jannone, Giulia G; de Magnée, Catherine C; Tambucci, Roberto R; Evraerts, Jonathan J; Ravau, Joachim J; Najimi, Mustapha M; Sokal, Etienne Marc EM

Publication Date: 2023

Variant appearance in text: JAG1: 551G>A; Arg184His

PubMed Link: 37099537

Variant Present in the following documents:

• Main text
• pone.0285019.pdf

View BVdb publication page

---

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: 551G>A; Arg184His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Cancers

Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Turco, Laura L; Seri, Marco M; Piscaglia, Fabio F; Morelli, Maria Cristina MC

Publication Date: 2022-07-14

Variant appearance in text: JAG1: 551G>A; R184H

PubMed Link: 35884482

Variant Present in the following documents:

• cancers-14-03421.pdf

View BVdb publication page

---

Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: JAG1: 551G>A; Arg184His

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

---

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

American Journal Of Medical Genetics. Part A

Schindler, Emma A EA; Gilbert, Melissa A MA; Piccoli, David A DA; Spinner, Nancy B NB; Krantz, Ian D ID; Loomes, Kathleen M KM

Publication Date: 2021-03

Variant appearance in text: JAG1: 551G>A; Arg184His

PubMed Link: 33369123

Variant Present in the following documents:

• Main text
• AJMG-185-719.pdf

View BVdb publication page

---

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

The Journal Of Clinical Investigation

Sullivan, Jeremy M JM; Motley, William W WW; Johnson, Janel O JO; Aisenberg, William H WH; Marshall, Katherine L KL; Barwick, Katy Es KE; Kong, Lingling L; Huh, Jennifer S JS; Saavedra-Rivera, Pamela C PC; McEntagart, Meriel M MM; Marion, Marie-Helene MH; Hicklin, Lucy A LA; Modarres, Hamid H; Baple, Emma L EL; Farah, Mohamed H MH; Zuberi, Aamir R AR; Lutz, Cathleen M CM; Gaudet, Rachelle R; Traynor, Bryan J BJ; Crosby, Andrew H AH; Sumner, Charlotte J CJ

Publication Date: 2020-03-02

Variant appearance in text: JAG1: Arg184His

PubMed Link: 32065591

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 551G>A; Arg184His

PubMed Link: 31343788

Variant Present in the following documents:

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

View BVdb publication page

---

Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: JAG1: 551G>A; Arg184His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

---

Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases.

Advances In Experimental Medicine And Biology

Salazar, Jose L JL; Yamamoto, Shinya S

Publication Date: 2018

Variant appearance in text: JAG1: R184H

PubMed Link: 30030826

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Molecular Genetics & Genomic Medicine

Hauser, Natalie S NS; Solomon, Benjamin D BD; Vilboux, Thierry T; Khromykh, Alina A; Baveja, Rajiv R; Bodian, Dale L DL

Publication Date: 2018-03

Variant appearance in text: JAG1: 551G>A; R184H

PubMed Link: 29368431

Variant Present in the following documents:

• Main text
• MGG3-6-200-s002.xlsx, sheet 2
• MGG3-6-200.pdf

View BVdb publication page

---

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: JAG1: R184H; rs121918351

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

---

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: R184H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: JAG1: R184H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

---

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: R184H

PubMed Link: 12649809

Variant Present in the following documents:

• Main text

View BVdb publication page

---