Publications Authored by Michele Caggana

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.

Authors:

Andreas Giannakou Robert J Sicko Wei Zhang Paul Romitti Marilyn L Browne Michele Caggana Lawrence C Brody Laura Jelliffe-Pawlowski Gary M Shaw Denise M Kay James L Mills

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.

Authors:

Tonia C Carter Robert J Sicko Denise M Kay Marilyn L Browne Paul A Romitti Zoё L Edmunds Aiyi Liu Ruzong Fan Charlotte M Druschel Michele Caggana Lawrence C Brody James L Mills

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.

Authors:

Stephanie Albin-Leeds Juliana Ochoa Harshna Mehta Beth H Vogel Michele Caggana Vincent Bonagura Heather Lehman Mark Ballow Arye Rubinstein Subhadra Siegel Leonard Weiner Geoffrey A Weinberg Charlotte Cunningham-Rundles

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.

Authors:

Robert J Sicko Marilyn L Browne Shannon L Rigler Charlotte M Druschel Gang Liu Ruzong Fan Paul A Romitti Michele Caggana Denise M Kay Lawrence C Brody James L Mills

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

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Authors:

Na Lin Jingyu Huang Sara Violante Joseph J Orsini Michele Caggana Erin E Hughes Colleen Stevens Lisa DiAntonio Hsuan Chieh Liao Xinying Hong Farideh Ghomashchi Arun Babu Kumar Hui Zhou Ruth Kornreich Melissa Wasserstein Michael H Gelb Chunli Yu

Clin Chem 2017 Apr 14;63(4):842-851. Epub 2017 Feb 14.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY;

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April 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.

Authors:

Aggeliki Dimopoulos Robert J Sicko Denise M Kay Shannon L Rigler Ruzong Fan Paul A Romitti Marilyn L Browne Charlotte M Druschel Michele Caggana Lawrence C Brody James L Mills

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.

Authors:

Melissa Pearce Erin Dauerer A Gregory DiRienzo Michele Caggana Norma P Tavakoli

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.

Authors:

Aggeliki Dimopoulos Robert J Sicko Denise M Kay Shannon L Rigler Charlotte M Druschel Michele Caggana Marilyn L Browne Ruzong Fan Paul A Romitti Lawrence C Brody James L Mills

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

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Genet Med 2016 12 12;18(12):1235-1243. Epub 2016 May 12.

Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.

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December 2016

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

Authors:

Erin M Hagen Robert J Sicko Denise M Kay Shannon L Rigler Aggeliki Dimopoulos Shabbir Ahmad Margaret H Doleman Ruzong Fan Paul A Romitti Marilyn L Browne Michele Caggana Lawrence C Brody Gary M Shaw Laura L Jelliffe-Pawlowski James L Mills

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.

Authors:

Joseph J Orsini Carlos A Saavedra-Matiz Michael H Gelb Michele Caggana

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.

Authors:

Carlos A Saavedra-Matiz Paola Luzi Matthew Nichols Joseph J Orsini Michele Caggana David A Wenger

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.

Authors:

David G Anders Fei Tang Tatania Ledneva Michele Caggana Nancy S Green Ying Wang Lawrence S Sturman

Am J Prev Med 2016 Jul;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.

Authors:

Melissa Pearce Lenore DeMartino Rebecca McMahon Rhonda Hamel Breanne Maloney Daniele-Marisa Stansfield Emily C McGrath Amanda Occhionero Adam Gearhart Michele Caggana Norma P Tavakoli

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.

Authors:

Nansi S Boghossian Robert J Sicko Denise M Kay Shannon L Rigler Michele Caggana Michael Y Tsai Edwina H Yeung Nathan Pankratz Benjamin R Cole Charlotte M Druschel Paul A Romitti Marilyn L Browne Ruzong Fan Aiyi Liu Lawrence C Brody James L Mills

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

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Genet Med 2016 Mar 21;18(3):239-48. Epub 2016 Jan 21.

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

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March 2016

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

Authors:

Denise M Kay Breanne Maloney Rhonda Hamel Melissa Pearce Lenore DeMartino Rebecca McMahon Emily McGrath Lea Krein Beth Vogel Carlos A Saavedra-Matiz Michele Caggana Norma P Tavakoli

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

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Hum Mutat 2016 Feb 2;37(2):201-8. Epub 2015 Dec 2.

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

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February 2016

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

Authors:

Edwina H Yeung Germaine Buck Louis David Lawrence Kurunthachalam Kannan Alexander C McLain Michele Caggana Charlotte Druschel Erin Bell

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

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

Authors:

Denise M Kay Elinor Langfelder-Schwind Joan DeCelie-Germana Jack K Sharp Breanne Maloney Norma P Tavakoli Carlos A Saavedra-Matiz Lea M Krein Michele Caggana Catherine Kier

Pediatr Pulmonol 2015 Aug 22;50(8):771-80. Epub 2015 Jun 22.

University Medical Center at Stony Brook, Stony Brook, New York.

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August 2015

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

Authors:

Ying Wang Gang Liu Michele Caggana Joseph Kennedy Regina Zimmerman Suzette O Oyeku Ellen M Werner Althea M Grant Nancy S Green Scott D Grosse

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.

Authors:

Shannon L Rigler Denise M Kay Robert J Sicko Ruzong Fan Aiyi Liu Michele Caggana Marilyn L Browne Charlotte M Druschel Paul A Romitti Lawrence C Brody James L Mills

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.

Authors:

Faith Pangilinan Anne M Molloy James L Mills James F Troendle Anne Parle-McDermott Denise M Kay Marilyn L Browne Emily C McGrath Hatice Ozel Abaan Marie Sutton Peadar N Kirke Michele Caggana Barry Shane John M Scott Lawrence C Brody

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.

Authors:

Tatyana Adayev Giuseppe LaFauci Carl Dobkin Michele Caggana Veronica Wiley Michael Field Tiffany Wotton Richard Kascsak Sarah L Nolin Anne Glicksman Nicole Hosmer W Ted Brown

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.

Authors:

Ying Wang Marilyn Sango-Jordan Michele Caggana

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.

Authors:

Wan-Li Ma Chongjing Gao Erin M Bell Charlotte M Druschel Michele Caggana Kenneth M Aldous Germaine M Buck Louis Kurunthachalam Kannan

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.

Authors:

Antonia Kwan Roshini S Abraham Robert Currier Amy Brower Karen Andruszewski Jordan K Abbott Mei Baker Mark Ballow Louis E Bartoshesky Francisco A Bonilla Charles Brokopp Edward Brooks Michele Caggana Jocelyn Celestin Joseph A Church Anne Marie Comeau James A Connelly Morton J Cowan Charlotte Cunningham-Rundles Trivikram Dasu Nina Dave Maria T De La Morena Ulrich Duffner Chin-To Fong Lisa Forbes Debra Freedenberg Erwin W Gelfand Jaime E Hale I Celine Hanson Beverly N Hay Diana Hu Anthony Infante Daisy Johnson Neena Kapoor Denise M Kay Donald B Kohn Rachel Lee Heather Lehman Zhili Lin Fred Lorey Aly Abdel-Mageed Adrienne Manning Sean McGhee Theodore B Moore Stanley J Naides Luigi D Notarangelo Jordan S Orange Sung-Yun Pai Matthew Porteus Ray Rodriguez Neil Romberg John Routes Mary Ruehle Arye Rubenstein Carlos A Saavedra-Matiz Ginger Scott Patricia M Scott Elizabeth Secord Christine Seroogy William T Shearer Subhadra Siegel Stacy K Silvers E Richard Stiehm Robert W Sugerman John L Sullivan Susan Tanksley Millard L Tierce James Verbsky Beth Vogel Rosalyn Walker Kelly Walkovich Jolan E Walter Richard L Wasserman Michael S Watson Geoffrey A Weinberg Leonard B Weiner Heather Wood Anne B Yates Jennifer M Puck Vincent R Bonagura

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 for SCID in New York State: experience from the first two years.

Authors:

Beth H Vogel Vincent Bonagura Geoffrey A Weinberg Mark Ballow Jason Isabelle Lisa DiAntonio April Parker Allison Young Charlotte Cunningham-Rundles Chin-To Fong Jocelyn Celestin Heather Lehman Arye Rubinstein Subhadra Siegel Leonard Weiner Carlos Saavedra-Matiz Denise M Kay Michele Caggana

J Clin Immunol 2014 Apr 1;34(3):289-303. Epub 2014 Mar 1.

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

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April 2014

Newborn screening: from Guthrie to whole genome sequencing.

Authors:

Michele Caggana Elizabeth A Jones S I Shahied Susan Tanksley Cheryl A Hermerath Ira M Lubin

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

Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.

Authors:

Bjarke Feenstra Frank Geller Lisbeth Carstensen Paul A Romitti Izabella Baranowska Körberg Bruce Bedell Camilla Krogh Ruzong Fan Anna Svenningsson Michele Caggana Agneta Nordenskjöld James L Mills Jeffrey C Murray Mads Melbye

JAMA 2013 Aug;310(7):714-21

Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.

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August 2013

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

Authors:

Carlos A Saavedra-Matiz Jason T Isabelle Chad K Biski Salvatore J Duva Melissa L Sweeney April L Parker Allison J Young Lisa L Diantonio Lea M Krein Matthew J Nichols Michele Caggana

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.

Authors:

Wan-Li Ma Sehun Yun Erin M Bell Charlotte M Druschel Michele Caggana Kenneth M Aldous Germaine M Buck Louis Kurunthachalam Kannan

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.

Authors:

Wanli Ma Kurunthachalam Kannan Qian Wu Erin M Bell Charlotte M Druschel Michele Caggana Kenneth M Aldous

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

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Authors:

Wei-Lien Chuang Josh Pacheco X Kate Zhang Monica M Martin Chad K Biski Joan M Keutzer David A Wenger Michele Caggana Joseph J Orsini

Clin Chim Acta 2013 Apr 16;419:73-6. Epub 2013 Feb 16.

Genzyme Corporation, Framingham, MA 01701-09322, United States.

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April 2013

Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity.

Authors:

Ying Wang Joseph Kennedy Michele Caggana Regina Zimmerman Sanil Thomas John Berninger Katharine Harris Nancy S Green Suzette Oyeku Mary Hulihan Althea M Grant Scott D Grosse

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.

Authors:

Guthrie S Birkhead Wendy P Pulver Barbara L Warren Susan J Klein Monica M Parker Michele Caggana Lou C Smith

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.

Authors:

Brian Kirmse Charlotte V Hobbs Inga Peter Bryan Laplante Michele Caggana Karen Kloke Kimiyo Raymond Marshall Summar William Borkowsky

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.

Authors:

Tonia C Carter Denise M Kay Marilyn L Browne Aiyi Liu Paul A Romitti Devon Kuehn Mary R Conley Michele Caggana Charlotte M Druschel Lawrence C Brody James L Mills

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

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Nat Genet 2012 Dec 18;44(12):1360-4. Epub 2012 Nov 18.

Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health (NIH), Baltimore, MD, USA.

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December 2012

Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.

Authors:

Marilyn L Browne Tonia C Carter Denise M Kay Devon Kuehn Lawrence C Brody Paul A Romitti Aiyi Liu Michele Caggana Charlotte M Druschel James L Mills

Am J Med Genet A 2012 Oct 10;158A(10):2463-72. Epub 2012 Sep 10.

Congenital Malformations Registry, New York State Department of Health, Troy, USA.

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October 2012

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

Authors:

Neal A Englert Robert J Turesky Weiguo Han Erin E Bessette Simon D Spivack Michele Caggana David C Spink Barbara C Spink

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

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.

Authors:

Joseph J Orsini Monica M Martin Amanda L Showers Olaf A Bodamer X Kate Zhang Michael H Gelb Michele Caggana

Clin Chim Acta 2012 Aug 21;413(15-16):1270-3. Epub 2012 Apr 21.

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

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August 2012

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

Authors:

Tonia C Carter Denise M Kay Marilyn L Browne Aiyi Liu Paul A Romitti Devon Kuehn Mary R Conley Michele Caggana Charlotte M Druschel Lawrence C Brody James L Mills

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.

Authors:

James L Mills Tonia C Carter Denise M Kay Marilyn L Browne Lawrence C Brody Aiyi Liu Paul A Romitti Michele Caggana Charlotte M Druschel

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.

Authors:

Ying Wang Michele Caggana Marilyn Sango-Jordan Mingzeng Sun Charlotte M Druschel

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

Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing.

Authors:

Joseph J Orsini John Yeman Michele Caggana Olaf A Bodamer Adolf Mühl

Clin Chim Acta 2010 Jun 15;411(11-12):894-5. Epub 2010 Mar 15.

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June 2010

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Authors:

Georgianne L Arnold Carlos A Saavedra-Matiz Patricia A Galvin-Parton Richard Erbe Ellen Devincentis David Kronn Shideh Mofidi Melissa Wasserstein Joan E Pellegrino Paul A Levy Darius J Adams Matthew Nichols Michele Caggana

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

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Authors:

James D Weisfeld-Adams Mark A Morrissey Brian M Kirmse Bobbie R Salveson Melissa P Wasserstein Peter J McGuire Sherlykutty Sunny Jessica L Cohen-Pfeffer Chunli Yu Michele Caggana George A Diaz

Mol Genet Metab 2010 Feb 27;99(2):116-23. Epub 2009 Sep 27.

Program for Inherited Metabolic Diseases, Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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February 2010

Isolation of tumor cells using size and deformation.

Authors:

Hisham Mohamed Megan Murray James N Turner Michele Caggana

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.

Authors:

Joseph J Orsini Mark A Morrissey Laura N Slavin Matthew Wojcik Chad Biski Monica Martin Joan Keutzer X Kate Zhang Wei-Lien Chuang Carole Elbin Michele Caggana

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 of genomic reference materials for cystic fibrosis genetic testing.

Authors:

Victoria M Pratt Michele Caggana Christina Bridges Arlene M Buller Lisa DiAntonio W Edward Highsmith Leonard M Holtegaard Kasinathan Muralidharan Elizabeth M Rohlfs Jack Tarleton Lorraine Toji Shannon D Barker Lisa V Kalman

J Mol Diagn 2009 May 9;11(3):186-93. Epub 2009 Apr 9.

Quest Diagnostics, Nichols Institute, Chantilly, Virginia, USA.

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May 2009

Newborn screening for Krabbe disease: the New York State model.

Pediatr Neurol 2009 Apr;40(4):245-52; discussion 253-5

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

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April 2009

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

Authors:

Victor R De Jesus X Kate Zhang Joan Keutzer Olaf A Bodamer Adolf Mühl Joseph J Orsini Michele Caggana Robert F Vogt W Harry Hannon

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.

Authors:

Ira M Lubin Michele Caggana Carolyn Constantin Susan J Gross Elaine Lyon Roberta A Pagon Tracy L Trotter Jean Amos Wilson Margaret M McGovern

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.

Authors:

Matthew J Nichols Carlos A Saavedra-Matiz Kenneth A Pass Michele Caggana

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.

Authors:

Hisham Mohamed James N Turner Michele Caggana

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.

Authors:

Michele Caggana Laura Helton

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

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July 2007

Development and characterization of on-chip biopolymer membranes.

Authors:

Hisham Mohamed Anthony P Russo Donald H Szarowski Elizabeth McDonnell Lori A Lepak Michael G Spencer David L Martin Michele Caggana James N Turner

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

Developing a sustainable process to provide quality control materials for genetic testing.

Genet Med 2005 Oct;7(8):534-49

Quality Control Materials for Genetic Testing Group, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.

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October 2005

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

Authors:

Hisham Mohamed Leslie D McCurdy Donald H Szarowski Salvatore Duva James N Turner Michele Caggana

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.

Authors:

Xiuling Zhang Michele Caggana Tracey L Cutler Xinxin Ding

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.

Authors:

Xiuling Zhang Ying Chen Yiqin Liu Xiang Ren Qing-Yu Zhang Michele Caggana Xinxin Ding

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.

Authors:

Dana C Crawford Michele Caggana Katharine B Harris Fred Lorey Claudia Nash Kenneth A Pass Corinna Tempelis Richard S Olney

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.

Authors:

Xiuling Zhang Ting Su Qing-Yu Zhang Jun Gu Michele Caggana Hongming Li Xinxin Ding

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.

Authors:

Karen Steinberg Jeanne Beck Deborah Nickerson Montserrat Garcia-Closas Margaret Gallagher Michele Caggana Yvonne Reid Mark Cosentino Jay Ji Delene Johnson Richard B Hayes Marie Earley Fred Lorey Harry Hannon Muin J Khoury Eric Sampson

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

Michele Caggana

Michele Caggana

Publications by authors named "Michele Caggana"

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