Deborah McEldrew

Deborah McEldrew

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Deborah McEldrew

Deborah McEldrew

Publications by authors named "Deborah McEldrew"

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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

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

NIPBL haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Sci Rep 2018 01 18;8(1):1056. Epub 2018 Jan 18.

Division of Human Genetics, The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.

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http://dx.doi.org/10.1038/s41598-018-19173-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773608PMC
January 2018