Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes

Kay, D. M., Sadeghi, H., Kier, C., Berdella, M., DeCelie‐Germana, J. K., Soultan, Z. N., Goetz, D. M., Caggana, M., Fortner, C. N., Giusti, R., Kaslovsky, R., Stevens, C., Voter, K., Welter, J. J., & Langfelder‐Schwind, E. (2024). Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes. Pediatric Pulmonology, 59(7), 1952–1961. Portico. https://doi.org/10.1002/ppul.27023
Authors:
Denise M Kay
Hossein Sadeghi
Catherine Kier
Maria Berdella
Joan K DeCelie-Germana
Zafer N Soultan
Danielle M Goetz
Michele Caggana
Christopher N Fortner
Robert Giusti
Robert Kaslovsky
Colleen Stevens
Karen Voter
John J Welter
Elinor Langfelder-Schwind
Affiliated Authors:
Hossein Sadeghi
Columbia Affiliation:
Subjects:
Cystic Fibrosis Transmembrane Conductance Regulator (MeSH)
Cystic Fibrosis (MeSH)
Genetic Counseling (MeSH)
Neonatal Screening (MeSH)
Parents (MeSH)
Genotype (MeSH)
Author Keywords:
cf irt-dna-seq algorithm
cf screen positive
cf screen positive, inconclusive diagnosis
cftr phasing analysis
cftr-related metabolic syndrome
cystic fibrosis newborn screening
genetic counseling
cf irt‐dna‐seq algorithm
cftr‐related metabolic syndrome
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Publication Type:
Article
Unique ID:
10.1002/ppul.27023
PMID:
38695616
DOI:
10.1002/ppul.27023
Journal:
Pediatric Pulmonology
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: