Denise M Kay

Denise M Kay

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Denise M Kay

Denise M Kay

Publications by authors named "Denise M Kay"

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Genomic analyses in African populations identify novel risk loci for cleft palate.

Hum Mol Genet 2019 Mar;28(6):1038-1051

Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddy402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400042PMC
March 2019

Copy number variants in hypoplastic right heart syndrome.

Am J Med Genet A 2018 12 5;176(12):2760-2767. Epub 2018 Oct 5.

Division of Intramural Population Health Research, Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.40527
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http://dx.doi.org/10.1002/ajmg.a.40527DOI Listing
December 2018

Rare copy number variants identified in prune belly syndrome.

Eur J Med Genet 2018 Mar 23;61(3):145-151. Epub 2017 Nov 23.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ejmg.2017.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803418PMC
March 2018

Copy number variants in Ebstein anomaly.

PLoS One 2017 7;12(12):e0188168. Epub 2017 Dec 7.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0188168PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720705PMC
January 2018

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

J Hum Genet 2017 Oct 25;62(10):877-884. Epub 2017 May 25.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/jhg.2017.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612852PMC
October 2017

Loss-of-function mutations in the gene are a novel cause of Cushing's disease.

Endocr Relat Cancer 2017 08 22;24(8):379-392. Epub 2017 May 22.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/ERC-17-0131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510591PMC
August 2017

Corticotropinoma as a Component of Carney Complex.

J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/js.2017-00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686778PMC
July 2017

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

PLoS One 2016 27;11(10):e0165174. Epub 2016 Oct 27.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082909PMC
June 2017

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Am J Med Genet A 2017 Feb 30;173(2):352-359. Epub 2016 Nov 30.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205266PMC
February 2017

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Birth Defects Res 2017 01;109(1):8-15

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdra.23586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388571PMC
January 2017

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Hum Genet 2016 12 15;135(12):1355-1364. Epub 2016 Sep 15.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065782PMC
http://dx.doi.org/10.1007/s00439-016-1727-xDOI Listing
December 2016

Rare copy number variants implicated in posterior urethral valves.

Am J Med Genet A 2016 Mar 14;170(3):622-33. Epub 2015 Dec 14.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205289PMC
March 2016

Screening for cystic fibrosis in New York State: considerations for algorithm improvements.

Eur J Pediatr 2016 Feb 21;175(2):181-93. Epub 2015 Aug 21.

Division of Genetics, Wadsworth Center, New York State Department of Health, David Axelrod Institute, 120, New Scotland Ave., Albany, NY, 12208, USA.

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http://dx.doi.org/10.1007/s00431-015-2616-3DOI Listing
February 2016

Novel copy-number variants in a population-based investigation of classic heterotaxy.

Genet Med 2015 May 18;17(5):348-57. Epub 2014 Sep 18.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901701PMC
May 2015

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

BMC Med Genet 2014 Oct 8;15:102. Epub 2014 Oct 8.

Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Room 5306, 50 South Drive, Bethesda, MD, 20892-8004, USA.

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http://dx.doi.org/10.1186/s12881-014-0102-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411759PMC
October 2014

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

JAMA 2014 Aug;312(7):729-38

Department of Pediatrics, University of California, San Francisco, San Francisco2UCSF Benioff Children's Hospital, San Francisco, California.

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http://primaryimmune.org/wp-content/uploads/2014/10/August-2
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http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabl
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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2014.9132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492158PMC
August 2014

Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Ann Hum Genet 2013 Jan 6;77(1):31-46. Epub 2012 Nov 6.

Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda 20892, MD, USA.

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http://dx.doi.org/10.1111/j.1469-1809.2012.00734.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535506PMC
January 2013

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

J Hum Genet 2012 Aug 31;57(8):485-93. Epub 2012 May 31.

Department of Health and Human Services, Division of Epidemiology, Statistics, and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/jhg.2012.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503526PMC
August 2012

Folate and vitamin B12-related genes and risk for omphalocele.

Hum Genet 2012 May 25;131(5):739-46. Epub 2011 Nov 25.

Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00439-011-1117-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374579PMC
May 2012

Later onset phenotypes of Krabbe disease: results of the world-wide registry.

Pediatr Neurol 2012 May;46(5):298-306

Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, New York 14203, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.02.023DOI Listing
May 2012

Disease-related and genetic correlates of psychotic symptoms in Parkinson's disease.

Mov Disord 2011 Oct 28;26(12):2190-5. Epub 2011 Jun 28.

Department of Neurology, Emory University School of Medicine, 1841 Clifton Road NE, Atlanta, GA 30329, USA.

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http://dx.doi.org/10.1002/mds.23806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216677PMC
October 2011

Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.

Pediatr Neurol 2011 Sep;45(3):141-8

Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, NY 14203, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.007DOI Listing
September 2011

Postural instability/gait disturbance in Parkinson's disease has distinct subtypes: an exploratory analysis.

J Neurol Neurosurg Psychiatry 2011 May 30;82(5):564-8. Epub 2010 Sep 30.

Emory University School of Medicine, Department of Neurology, 1841 Clifton Road NE, Atlanta, GA 30329, USA.

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http://dx.doi.org/10.1136/jnnp.2010.222042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646086PMC
May 2011

Genetic association between alpha-synuclein and idiopathic Parkinson's disease.

Am J Med Genet B Neuropsychiatr Genet 2008 Oct;147B(7):1222-30

New York State Department of Health, Division of Genetic Disorders, Wadsworth Center, Albany, New York 12208, USA.

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http://dx.doi.org/10.1002/ajmg.b.30758DOI Listing
October 2008

Exploring gene-environment interactions in Parkinson's disease.

Hum Genet 2008 Apr 22;123(3):257-65. Epub 2008 Jan 22.

Applied Statistics Laboratory, General Electric Global Research Center, Niskayuna, NY, USA.

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http://dx.doi.org/10.1007/s00439-008-0466-zDOI Listing
April 2008

Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk.

Mov Disord 2008 Jan;23(1):88-95

Department of Environmental and Occupational Health Sciences, School of Public Health and Community Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.21782DOI Listing
January 2008

Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.

Mov Disord 2006 Apr;21(4):519-23

Genomics Institute, Wadsworth Center, New York State Department of Health, Albany, 12201, USA.

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http://dx.doi.org/10.1002/mds.20751DOI Listing
April 2006