Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State

Sadeghi, H., Kay, D. M., Langfelder-Schwind, E., DeCelie-Germana, J. K., Berdella, M., Soultan, Z. N., Goetz, D. M., Caggana, M., Fortner, C. N., Giusti, R., Kaslovsky, R., Stevens, C., Tavakoli, N., Voter, K., Welter, J. J., & Kier, C. (2024). Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State. Journal of Cystic Fibrosis. https://doi.org/10.1016/j.jcf.2024.10.015
Authors:
Hossein Sadeghi
Denise M Kay
Elinor Langfelder-Schwind
Joan K DeCelie-Germana
Maria Berdella
Zafer N Soultan
Danielle M Goetz
Michele Caggana
Christopher N Fortner
Robert Giusti
Robert Kaslovsky
Colleen Stevens
Norma Tavakoli
Karen Voter
John J Welter
Catherine Kier
Affiliated Authors:
Hossein Sadeghi
Author Keywords:
irt-dna-seq newborn screening algorithm
cystic fibrosis screen positive
inconclusive diagnosis (cfspid)
cystic fibrosis transmembrane conductance
regulator-related metabolic syndrome (crms)
cftr sequencing
sweat chloride trends
cf conversion
cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (crms)
Publication Type:
Article
Unique ID:
10.1016/j.jcf.2024.10.015
PMID:
Publication Date:
Data Source:
PubMed

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