Michele Caggana

Michele Caggana

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Michele Caggana

Michele Caggana

Publications by authors named "Michele Caggana"

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73Publications

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Copy number variants in hypoplastic right heart syndrome.

Am J Med Genet A 2018 Oct 5. 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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October 2018

Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen.

Eur J Endocrinol 2018 Sep 26;179(3):161-167. Epub 2018 Jun 26.

Division of GeneticsWadsworth Center, New York State Department of Health, Albany, New York, USA

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September 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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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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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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October 2017

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:

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October 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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June 2017

Newborn screening for cystic fibrosis: can one algorithm fit all?

Authors:
Michele Caggana

Expert Rev Mol Diagn 2017 03 6;17(3):205-207. Epub 2017 Feb 6.

a Newborn Screening Program, New York State Department of Health, Division of Genetics , Wadsworth Center , Albany , NY , USA.

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March 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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February 2017

The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.

Eur J Pediatr 2017 Jan 29;176(1):121-129. Epub 2016 Nov 29.

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

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January 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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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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December 2016

Newborn screening for Krabbe's disease.

J Neurosci Res 2016 11;94(11):1063-75

Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.

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November 2016

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

J Neurosci Res 2016 11;94(11):1076-83

Lysosomal Diseases Testing Laboratory, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.

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November 2016

Hydroxyurea Use in Young Children With Sickle Cell Anemia in New York State.

Am J Prev Med 2016 07;51(1 Suppl 1):S31-8

Office of the Medical Director, Office of Quality and Patient Safety, New York State Department of Health, Albany, New York.

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July 2016

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.

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June 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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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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February 2016

Eliciting parental support for the use of newborn blood spots for pediatric research.

BMC Med Res Methodol 2016 Feb 4;16:14. Epub 2016 Feb 4.

Department of Environmental Health Sciences, University at Albany School of Public Health, Albany, USA.

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February 2016

Mortality of New York children with sickle cell disease identified through newborn screening.

Genet Med 2015 Jun 25;17(6):452-9. Epub 2014 Sep 25.

Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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June 2015

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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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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October 2014

Fragile X protein in newborn dried blood spots.

BMC Med Genet 2014 Oct 28;15:119. Epub 2014 Oct 28.

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, New York, 10314, USA.

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October 2014

Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state.

Genet Med 2014 Sep 13;16(9):665-70. Epub 2014 Mar 13.

1] School of Public Health, University at Albany, State University of New York, Albany, New York, USA [2] Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York, USA.

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September 2014

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:

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August 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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August 2014

Newborn screening: from Guthrie to whole genome sequencing.

Public Health Rep 2013 Sep-Oct;128 Suppl 2:14-9

New York State Department of Health, Albany, NY.

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November 2013

Cost-effective and scalable DNA extraction method from dried blood spots.

Clin Chem 2013 Jul 18;59(7):1045-51. Epub 2013 Mar 18.

Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA.

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July 2013

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.

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July 2013

Analysis of polyfluoroalkyl substances and bisphenol A in dried blood spots by liquid chromatography tandem mass spectrometry.

Anal Bioanal Chem 2013 May 14;405(12):4127-38. Epub 2013 Feb 14.

Wadsworth Center, New York State Department of Health, School of Public Health, State University of New York at Albany, Albany, NY 12201-0509, USA.

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May 2013

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.

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March 2013

Progress in prevention of mother-to-child transmission of HIV in New York State: 1988-2008.

J Public Health Manag Pract 2010 Nov-Dec;16(6):481-91

Office of Public Health, New York State Department of Health, Corning Tower, ESP, Albany, NY 12237, USA.

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February 2013

Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.

Pediatr Infect Dis J 2013 Feb;32(2):146-50

Genetics & Metabolism, Children's National Medical Center, Washington, DC 20016, USA.

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February 2013

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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January 2013

Genetic and epigenetic regulation of AHR gene expression in MCF-7 breast cancer cells: role of the proximal promoter GC-rich region.

Biochem Pharmacol 2012 Sep 21;84(5):722-35. Epub 2012 Jun 21.

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

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September 2012

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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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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May 2012

Long-term follow-up of children with confirmed newborn screening disorders using record linkage.

Genet Med 2011 Oct;13(10):881-6

Congenital Malformations Registry, Bureau of Environmental and Occupational Epidemiology, Center for Environmental Health, New York State Department of Health, Flanigan Square, 547 River Street, Troy, NY 12180-2216, USA.

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October 2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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March 2011

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.

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March 2010

Isolation of tumor cells using size and deformation.

J Chromatogr A 2009 Nov 21;1216(47):8289-95. Epub 2009 May 21.

Wadsworth Center, New York State Department of Health, Albany, NY 12201-0509, USA.

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November 2009

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

Clin Biochem 2009 Jun 9;42(9):877-84. Epub 2009 Feb 9.

Newborn Screening Program, New York State Department of Health, Wadsworth Center, P.O. Box 509, Albany, NY 12201-0509, USA.

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June 2009

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

Clin Chem 2009 Jan 6;55(1):158-64. Epub 2008 Nov 6.

Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.

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January 2009

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

J Mol Diagn 2008 Sep 31;10(5):459-68. Epub 2008 Jul 31.

Centers for Disease Control and Prevention, 1600 Clifton Rd. NE, MS-G23, Atlanta, Georgia 30333, USA.

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September 2008

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.

Am J Med Genet A 2008 Mar;146A(5):610-9

Division of Genetic Disorders, Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York 12201, USA.

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March 2008

Biochip for separating fetal cells from maternal circulation.

J Chromatogr A 2007 Aug 22;1162(2):187-92. Epub 2007 Jun 22.

Wadsworth Center, New York State Department of Health, Albany, NY 12201-0509, USA.

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August 2007

Newborn screening for cystic fibrosis in New York State.

Pediatrics 2007 Jul;120(1):241; author reply 241-3

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July 2007

Development and characterization of on-chip biopolymer membranes.

J Chromatogr A 2006 Apr 24;1111(2):214-9. Epub 2005 Aug 24.

Wadsworth Center, New York State Department of Health, DGD/Nanobiotechnology Center, Empire State Plaza, Albany, 12201-0509, USA.

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April 2006

Development of a rare cell fractionation device: application for cancer detection.

IEEE Trans Nanobioscience 2004 Dec;3(4):251-6

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

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December 2004

Development of a real-time polymerase chain reaction-based method for the measurement of relative allelic expression and identification of CYP2A13 alleles with decreased expression in human lung.

J Pharmacol Exp Ther 2004 Oct 2;311(1):373-81. Epub 2004 Jun 2.

Wadsworth Center, New York State Department of Health, Empire State Plaza, Box 509, Albany, NY 12201-0509, USA.

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October 2004

Single nucleotide polymorphisms of the human cyp2a13 gene: evidence for a null allele.

Drug Metab Dispos 2003 Sep;31(9):1081-5

Wadsworth Center, New York State Department of Health, State University of New York, Albany, New York 12201-0509, USA.

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September 2003

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.

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March 2003

Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant.

J Pharmacol Exp Ther 2002 Aug;302(2):416-23

Wadsworth Center, New York State Department of Health, Empire State Plaza, Box 509, Albany, NY 12201-0509, USA.

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August 2002

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.

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May 2002