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Melissa A Gilbert

Showing results (11-20 of 19) with videos related to

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Stem Cell Research|December 25, 2024
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsElena F Evans, Guibin Chen, Ivan Pavlinov, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
American Journal of Human Genetics|July 23, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretationMelissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
Cellular and Molecular Gastroenterology and Hepatology|January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeEllen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Genetics in Medicine Open|January 26, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infantsK Taylor Wild, Sara L Reichert, Matthew C Dulik, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 31, 2025
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification GuidelinesShannon M Vandriel, Li-Ting Li, Huiyu She, et al.
Hepatology (Baltimore, Md.)|August 29, 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA studyShannon M Vandriel, Li-Ting Li, Huiyu She, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Stem Cell Research|December 25, 2024
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutationsElena F Evans, Guibin Chen, Ivan Pavlinov, et al.
Plos Genetics|August 14, 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1Ying Chen, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|January 17, 2020
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal diseaseMelissa A Gilbert, Laura Schultz-Rogers, Ramakrishnan Rajagopalan, et al.
American Journal of Human Genetics|July 23, 2024
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretationMelissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, et al.
Cellular and Molecular Gastroenterology and Hepatology|January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeEllen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Human Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.
Genetics in Medicine Open|January 26, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infantsK Taylor Wild, Sara L Reichert, Matthew C Dulik, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|July 31, 2025
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification GuidelinesShannon M Vandriel, Li-Ting Li, Huiyu She, et al.
Hepatology (Baltimore, Md.)|August 29, 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA studyShannon M Vandriel, Li-Ting Li, Huiyu She, et al.
Pageof 2