Michele Caggana
Overview
Explore the profile of Michele Caggana including associated specialties, affiliations and a list of published articles.
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Articles
111
Citations
2122
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Recent Articles
1.
Sack V, Etienne S, Beal G, Bradley S, Caggana M
Int J Neonatal Screen
. 2024 Nov;
10(4).
PMID: 39584998
The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening...
2.
Sadeghi H, Kay D, Langfelder-Schwind E, DeCelie-Germana J, Berdella M, Soultan Z, et al.
J Cyst Fibros
. 2024 Nov;
PMID: 39532587
Background: New York State implemented CFTR gene sequencing into the Cystic Fibrosis newborn screening (CF NBS) algorithm on 12/1/2017 to reduce false positive screens. With addition of sequencing, infants with...
3.
Ziegler A, Koval-Burt C, Kay D, Suchy S, Begtrup A, Langley K, et al.
JAMA
. 2024 Oct;
333(3):232-240.
PMID: 39446378
Importance: The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood. Objective: To report...
4.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, et al.
Genet Med Open
. 2024 Sep;
2.
PMID: 39345948
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide...
5.
Kellar-Guenther Y, Barringer L, Raboin K, Nichols G, Chou K, Nguyen K, et al.
Int J Neonatal Screen
. 2024 May;
10(2).
PMID: 38804359
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up...
6.
Kay D, Sadeghi H, Kier C, Berdella M, DeCelie-Germana J, Soultan Z, et al.
Pediatr Pulmonol
. 2024 May;
59(7):1952-1961.
PMID: 38695616
Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of...
7.
Kier C, Kay D, Langfelder-Schwind E, Goetz D, Berdella M, DeCelie-Germana J, et al.
Pediatr Pulmonol
. 2024 Mar;
59(5):1511-1513.
PMID: 38426813
No abstract available.
8.
Kelly N, Orsini J, Goldenberg A, Mulrooney N, Boychuk N, Clarke M, et al.
Mol Genet Metab Rep
. 2024 Jan;
38:101037.
PMID: 38173711
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to...
9.
Goldstein J, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, et al.
Mol Genet Metab
. 2023 Oct;
140(1-2):107715.
PMID: 37907381
Accurate determination of the clinical significance of genetic variants is critical to the integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical Genome Resource (ClinGen) has assembled...
10.
Maloney B, Park S, Sowizral M, Brackett I, Moslehi R, Chung W, et al.
Clin Biochem
. 2023 Jul;
118:110614.
PMID: 37479106
Introduction: Newborn screening for Duchenne muscular dystrophy can be performed via a first-tier creatine kinase-MM measurement followed by reflex testing to second-tier molecular analysis of the DMD gene. In order...