Publications by authors named "Michele Caggana"

80Publications

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

Authors:
Monica M Martin Ryan Wilson Michele Caggana Joseph J Orsini

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

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.

Authors:
Denise M Kay Colleen F Stevens April Parker Carlos A Saavedra-Matiz Virginia Sack Wendy K Chung Claudia A Chiriboga Kristin Engelstad Emma Laureta Osman Farooq Emma Ciafaloni Bo Hoon Lee Sohail Malek Simona Treidler Yaacov Anziska Leslie Delfiner Ai Sakonju Michele Caggana

Genet Med 2020 Aug 18;22(8):1296-1302. Epub 2020 May 18.

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

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August 2020

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

Authors:
Sarah L Reeves Brian Madden Meng Wu Lauren S Miller David Anders Michele Caggana Lindsay W Cogan Mary Kleyn Isabel Hurden Gary L Freed Kevin J Dombkowski

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.

Authors:
Alissa B Terry Amanda Wylie Melissa Raspa Beth Vogel Kunal Sanghavi Luba Djurdjinovic Michele Caggana Joann Bodurtha

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

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

Authors:
Azeez Butali Peter A Mossey Wasiu L Adeyemo Mekonen A Eshete Lord J J Gowans Tamara D Busch Deepti Jain Wenjie Yu Liu Huan Cecelia A Laurie Cathy C Laurie Sarah Nelson Mary Li Pedro A Sanchez-Lara William P Magee Kathleen S Magee Allyn Auslander Frederick Brindopke Denise M Kay Michele Caggana Paul A Romitti James L Mills Rosemary Audu Chika Onwuamah Ganiyu O Oseni Arwa Owais Olutayo James Peter B Olaitan Babatunde S Aregbesola Ramat O Braimah Fadekemi O Oginni Ayodeji O Oladele Saidu A Bello Jennifer Rhodes Rita Shiang Peter Donkor Solomon Obiri-Yeboah Fareed Kow Nanse Arthur Peter Twumasi Pius Agbenorku Gyikua Plange-Rhule Alexander Acheampong Oti Olugbenga M Ogunlewe Afisu A Oladega Adegbayi A Adekunle Akinwunmi O Erinoso Olatunbosun O Adamson Abosede A Elufowoju Oluwanifemi I Ayelomi Taiye Hailu Abiye Hailu Yohannes Demissie Miliard Derebew Steve Eliason Miguel Romero-Bustillous Cynthia Lo James Park Shaan Desai Muiawa Mohammed Firke Abate Lukman O Abdur-Rahman Deepti Anand Irfaan Saadi Abimibola V Oladugba Salil A Lachke Brad A Amendt Charles N Rotimi Mary L Marazita Robert A Cornell Jeffrey C Murray Adebowale A Adeyemo

Hum Mol Genet 2019 03;28(6):1038-1051

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

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March 2019

Copy number variants in hypoplastic right heart syndrome.

Authors:
Andreas Giannakou Robert J Sicko Denise M Kay Wei Zhang Paul A Romitti Michele Caggana Gary M Shaw Laura L Jelliffe-Pawlowski James L Mills

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

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Authors:
João Fadista Line Skotte Frank Geller Jonas Bybjerg-Grauholm Sanne Gørtz Paul A Romitti Michele Caggana Denise M Kay Hans Matsson Heather A Boyd David M Hougaard Agneta Nordenskjöld James L Mills Mads Melbye Bjarke Feenstra

Hum Mol Genet 2019 01;28(2):332-340

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

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January 2019

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Authors:
Melissa P Wasserstein Michele Caggana Sean M Bailey Robert J Desnick Lisa Edelmann Lissette Estrella Ian Holzman Nicole R Kelly Ruth Kornreich S Gabriel Kupchik Monica Martin Suhas M Nafday Randi Wasserman Amy Yang Chunli Yu Joseph J Orsini

Genet Med 2019 03 10;21(3):631-640. Epub 2018 Aug 10.

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

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March 2019

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

Authors:
Lenore DeMartino Rebecca McMahon Michele Caggana Norma P Tavakoli

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

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Authors:
Jennifer N Kraszewski Denise M Kay Colleen F Stevens Carrie Koval Bianca Haser Veronica Ortiz Anthony Albertorio Lilian L Cohen Ritu Jain Sarah P Andrew Sally Dunaway Young Nicole M LaMarca Darryl C De Vivo Michele Caggana Wendy K Chung

Genet Med 2018 06 12;20(6):608-613. Epub 2017 Oct 12.

Department of Pediatrics, Columbia University, New York, New York, USA.

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June 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

Rare copy number variants identified in prune belly syndrome.

Authors:
Nansi S Boghossian Robert J Sicko Andreas Giannakou Aggeliki Dimopoulos Michele Caggana Michael Y Tsai Edwina H Yeung Nathan Pankratz Benjamin R Cole Paul A Romitti Marilyn L Browne Ruzong Fan Aiyi Liu Denise M Kay James L Mills

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

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

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

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 04 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

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

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