Publications by authors named "Dianalee McKnight"

24Publications

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Genome Res 2019 07 24;29(7):1144-1151. Epub 2019 Jun 24.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1101/gr.240994.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260PMC
July 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.

Pediatr Neurol 2018 02 23;79:61-64. Epub 2017 Oct 23.

GeneDx, Gaithersburg, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.10.013DOI Listing
February 2018

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Am J Med Genet A 2014 Nov 13;164A(11):2914-21. Epub 2014 Aug 13.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205182PMC
November 2014

Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP.

J Bone Miner Res 2012 Jun;27(6):1309-21

Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health/DHHS, 9000 Rockville Pike, Bethesda, MD, USA 20892-4320, USA.

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http://dx.doi.org/10.1002/jbmr.1573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390460PMC
June 2012

Molecular evolution of dentin phosphoprotein among toothed and toothless animals.

BMC Evol Biol 2009 Dec 23;9:299. Epub 2009 Dec 23.

Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, DHHS, Bethesda MD 20892, USA.

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http://dx.doi.org/10.1186/1471-2148-9-299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2803795PMC
December 2009

Small integrin-binding proteins as serum markers for prostate cancer detection.

Clin Cancer Res 2009 Aug 11;15(16):5199-207. Epub 2009 Aug 11.

Division of Geriatric Medicine & Gerontology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-09-0783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766346PMC
August 2009

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.

Hum Mutat 2008 Dec;29(12):1392-404

Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Department of Health and Human Services (DHHS), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.20783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534847PMC
December 2008

TM14 is a new member of the fibulin family (fibulin-7) that interacts with extracellular matrix molecules and is active for cell binding.

J Biol Chem 2007 Oct 14;282(42):30878-88. Epub 2007 Aug 14.

Laboratory of Cell and Developmental Biology, NIDCR, National Institutes of Health, Bethesda, Maryland 20892-4370, USA.

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http://dx.doi.org/10.1074/jbc.M705847200DOI Listing
October 2007