Publications by authors named "Michele Caggana"

80Publications

The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease.

Int J Neonatal Screen 2020 Aug 14;6(3). Epub 2020 Aug 14.

Wadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USA.

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August 2020

Performance of ICD-10-CM diagnosis codes for identifying children with Sickle Cell Anemia.

Health Serv Res 2020 04 9;55(2):310-317. Epub 2020 Jan 9.

Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

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April 2020

Clinical models of telehealth in genetics: A regional telegenetics landscape.

J Genet Couns 2019 06 2;28(3):673-691. Epub 2019 Mar 2.

NYMAC Regional Genetics Network, Wadsworth Center, Albany, New York.

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

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September 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

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 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

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

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 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