Melissa Gilbert

Melissa Gilbert

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Melissa Gilbert

Melissa Gilbert

Publications by authors named "Melissa Gilbert"

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13Publications

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

Hum Mutat 2019 Jul 25. Epub 2019 Jul 25.

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
July 2019

Alagille Syndrome.

Clin Liver Dis 2018 11 22;22(4):625-641. Epub 2018 Aug 22.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10893261183005
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http://dx.doi.org/10.1016/j.cld.2018.06.001DOI Listing
November 2018

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

Studying RNA-binding protein interactions with target mRNAs in eukaryotic cells: native ribonucleoprotein immunoprecipitation (RIP) assays.

Methods Mol Biol 2015 ;1262:239-46

Department of Surgery, The Jefferson Pancreas, Biliary, and Related Cancer Center, Thomas Jefferson University, 623 College Building, 1015 Walnut St., Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1007/978-1-4939-2253-6_14DOI Listing
September 2015

The archipelago tumor suppressor gene limits rb/e2f-regulated apoptosis in developing Drosophila tissues.

Curr Biol 2009 Sep 3;19(18):1503-10. Epub 2009 Sep 3.

Department of Cell Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.cub.2009.07.068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2755617PMC
September 2009

Genetic interactions between the Drosophila tumor suppressor gene ept and the stat92E transcription factor.

PLoS One 2009 Sep 29;4(9):e7083. Epub 2009 Sep 29.

Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007083PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747001PMC
September 2009

Functional interactions between the erupted/tsg101 growth suppressor gene and the DaPKC and rbf1 genes in Drosophila imaginal disc tumors.

PLoS One 2009 Sep 29;4(9):e7039. Epub 2009 Sep 29.

Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007039PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739425PMC
September 2009

ESCRTing cell proliferation off the beaten path: lessons from the drosophila eye.

Cell Cycle 2006 Feb 1;5(3):283-7. Epub 2006 Feb 1.

Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.4161/cc.5.3.2423DOI Listing
February 2006