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Melissa A. Gilbert
Observed names:
Gilbert, Melissa A.,
Melissa Gilbert
Institutions:
Children's Hospital of Philadelphia,
University of Pennsylvania
Observed institutions:
Children's Hospital of Philadelphia,
University of Pennsylvania
ORCID:
0000-0001-5345-1911
Observed ORCID:
0000-0001-5345-1911
OpenAlex ID:
A5015066546
Alagille syndrome mutation update: Comprehensive overview ofJAG1andNOTCH2mutation frequencies and insight into missense variant classification
2019
·
Melissa A. Gilbert
, Robert C. Bauer
, et al.
·
Human Mutation
·
154
PDF
Alagille Syndrome
2018
·
Ellen Mitchell
, Melissa Gilbert
, et al.
·
Clinics in Liver Disease
·
151
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
2022
·
Shannon M. Vandriel
, Li‐Ting Li
, et al.
·
Hepatology
·
98
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment
2021
·
Taisa J. Kohut
, Melissa A. Gilbert
, et al.
·
Seminars in Liver Disease
·
95
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1
2018
·
Ying Chen
, Melissa A. Gilbert
, et al.
·
PLoS Genetics
·
66
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
2016
·
Ellen A. Tsai
, Melissa A. Gilbert
, et al.
·
Cellular and Molecular Gastroenterology and Hepatology
·
51
PDF
Alagille Syndrome: Genetics and Functional Models
2017
·
Melissa A. Gilbert
, Nancy B. Spinner
·
Current Pathobiology Reports
·
41
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes
2020
·
Emma A. Schindler
, Melissa A. Gilbert
, et al.
·
American Journal of Medical Genetics Part A
·
30
PDF
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
2020
·
Ramakrishnan Rajagopalan
, Melissa A. Gilbert
, et al.
·
Genetics in Medicine
·
29
Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease
2020
·
Melissa A. Gilbert
, Laura Schultz‐Rogers
, et al.
·
Human Mutation
·
29
Compound heterozygous mutations inNEK8in siblings with end‐stage renal disease with hepatic and cardiac anomalies
2015
·
Ramakrishnan Rajagopalan
, Christopher M. Grochowski
, et al.
·
American Journal of Medical Genetics Part A
·
21
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts
2021
·
Melissa A. Gilbert
, Kathleen M. Loomes
·
Translational Gastroenterology and Hepatology
·
20
PDF
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
2024
·
Melissa A. Gilbert
, Ernest Keefer-Jacques
, et al.
·
The American Journal of Human Genetics
·
15
PDF
Genetics of Alagille Syndrome
2018
·
Melissa A. Gilbert
, Nancy B. Spinner
·
Springer eBooks
·
11
Phenotypic Divergence of JAG1 ‐ and NOTCH2 ‐Associated Alagille Syndrome & Disease‐Specific NOTCH2 Variant Classification Guidelines
2025
·
Shannon M. Vandriel
, Li‐Ting Li
, et al.
·
Liver International
·
5
PDF
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts
2020
·
Melissa A. Gilbert
, Kathleen M. Loomes
·
Translational Gastroenterology and Hepatology
·
4
Phenotypic Divergence of Jagged1 and Notch2-associated Alagille Syndrome: Results From the International Multicenter Gala Study Group
2020
·
Gala Study
, Shannon M. Vandriel
, et al.
·
Hepatology
·
4
Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene
2023
·
Omer Hatim
, Ivan Pavlinov
, et al.
·
Stem Cell Research
·
3
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants
2025
·
K. Taylor Wild
, Sara L. Reichert
, et al.
·
Genetics in Medicine Open
·
2
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital
2025
·
Victoria Dortenzio
, Lidija Barbaric
, et al.
·
American Journal of Medical Genetics Part A
·
2
PDF
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
2024
·
Omer Hatim
, Miao Xu
, et al.
·
Stem Cell Research
·
2
Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification
2026
·
Tristan J. Hayeck
, Christopher J. Sottolano
, et al.
·
The American Journal of Human Genetics
From supportive to targeted treatment strategies: the changing landscape of therapeutics in Alagille syndrome
2026
·
Kavitha Anbarasu
, Melissa A. Gilbert
, et al.
·
Expert Opinion on Therapeutic Targets
PDF
P591: High-throughput functional characterization of missense variants using a quantitative binding assay for the systematic evaluation of variant effects
2026
·
Ernest Keefer-Jacques
, Vince Luca
, et al.
·
Genetics in Medicine Open
PDF
Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations
2024
·
Elena F. Evans
, Guibin Chen
, et al.
·
Stem Cell Research
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Works count:
35
Citation count:
839
H-index:
13
I10-index:
14
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