Publications by authors named "Melissa A Gilbert"

7Publications

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.

Genet Med 2020 Oct 20. Epub 2020 Oct 20.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-020-00989-8DOI Listing
October 2020

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Hum Mutat 2020 May 6;41(5):973-982. Epub 2020 Feb 6.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23986DOI Listing
May 2020

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Hum Mutat 2019 12 26;40(12):2197-2220. Epub 2019 Aug 26.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899717PMC
December 2019

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

PLoS Genet 2018 08 13;14(8):e1007532. Epub 2018 Aug 13.

Division of Human Genetics, Department of Pediatrics, at The Children's Hospital of Philadelphia, and The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107291PMC
August 2018

Alagille syndrome: Genetics and Functional Models.

Curr Pathobiol Rep 2017 Sep;5(3):233-241

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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http://link.springer.com/10.1007/s40139-017-0144-8
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http://dx.doi.org/10.1007/s40139-017-0144-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736143PMC
September 2017

Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.

Cell Mol Gastroenterol Hepatol 2016 Sep 26;2(5):663-675.e2. Epub 2016 May 26.

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.

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https://linkinghub.elsevier.com/retrieve/pii/S2352345X163005
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http://dx.doi.org/10.1016/j.jcmgh.2016.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042888PMC
September 2016

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Am J Med Genet A 2016 Mar 24;170(3):750-3. Epub 2015 Dec 24.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37512DOI Listing
March 2016