Publications

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.

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.


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.

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.
Birth Defects Res 2017 Jan;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.


Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Hum Genet 2016 Dec 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.

Newborn screening for congenital adrenal hyperplasia in New York State.
Mol Genet Metab Rep 2016 Jun 12;7:1-7. Epub 2016 Mar 12.
Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA; Department of Biomedical Sciences, School of Public Health, State University of New York, Albany, NY, USA.

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.


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.


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.

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.

Analysis of polychlorinated biphenyls and organochlorine pesticides in archived dried blood spots and its application to track temporal trends of environmental chemicals in newborns.
Environ Res 2014 Aug 24;133:204-10. Epub 2014 Jun 24.
Wadsworth Center, New York State Department of Health, and Department of Environmental Health Sciences, School of Public Health, State University of New York at Albany, Empire State Plaza, P.O. Box 509, Albany, NY 12201-0509, USA; International Joint Research Center for Persistent Toxic Substances, State Key Laboratory of Urban Water Resource and Environment, Harbin Institute of Technology, Harbin 150090, China; Experimental Biochemistry Unit, King Fahd Medical Research Center, King Abdulaziz University, PO Box 80216, Jeddah 21589, Saudi Arabia. Electronic address:

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.


Temporal trends of polybrominated diphenyl ethers (PBDEs) in the blood of newborns from New York State during 1997 through 2011: analysis of dried blood spots from the newborn screening program.
Environ Sci Technol 2013 Jul 26;47(14):8015-21. Epub 2013 Jun 26.
Wadsworth Center, New York State Department of Health, and Department of Environmental Health Sciences, School of Public Health, State University of New York at Albany, Empire State Plaza, P.O. Box 509, Albany, New York 12201-0509, USA.

Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity.
Genet Med 2013 Mar 27;15(3):222-8. Epub 2012 Sep 27.
The Congenital Malformations Registry, Bureau of Environmental and Occupational Epidemiology, Center for Environmental Health, New York State Department of Health, Albany, New York, USA.

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.


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.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genet Med 2011 Mar;13(3):230-54
Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab 2010 Mar 1;99(3):263-8. Epub 2009 Nov 1.
Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.




Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.
Genet Med 2002 Sep-Oct;4(5):328-35
National Center on Birth Defects and Developmental Disabilities, Division of Applied Public Health Training, Epidemiology Program Office, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.

DNA banking for epidemiologic studies: a review of current practices.
Epidemiology 2002 May;13(3):246-54
Division of Environmental Health Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341-3724, USA.

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.

Idiopathic T cell lymphopenia identified in New York State Newborn Screening.
Clin Immunol 2017 10 8;183:36-40. Epub 2017 Jul 8.
Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:

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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