Refining the continuum of CFTR-associated disorders in the era of newborn screening-Reference-Cited by-同舟云学术

Refining the continuum of CFTR-associated disorders in the era of newborn screening

Published:2016-01-20 Issue:5 Volume:89 Page:539-549
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Levy H.¹²,Nugent M.³,Schneck K.¹,Stachiw-Hietpas D.⁴,Laxova A.⁵,Lakser O.⁶,Rock M.⁵,Dahmer M.K.¹⁷,Biller J.²,Nasr S.Z.⁸,Baker M.⁹¹⁰,McColley S.A.⁶,Simpson P.³,Farrell P.M.⁵

Affiliation:

1. Children's Research Institute; Children's Hospital of Wisconsin and Medical College of Wisconsin; Milwaukee WI USA

2. Division of Pulmonary and Sleep Medicine; Children's Hospital of Wisconsin; Milwaukee WI USA

3. Division of Quantitative Health Sciences, Department of Pediatrics; Medical College of Wisconsin; Milwaukee WI USA

4. Genetics Center; Children's Hospital and Health System of Wisconsin; Milwaukee WI USA

5. Department of Pediatrics and Population Health Sciences; University of Wisconsin School of Medicine and Public Health; Madison WI USA

6. Department of Pediatrics; Section of Pulmonary Medicine, Lurie's Children's Hospital and Northwestern University; Chicago IL USA

7. Division of Pediatric Critical Care Medicine; University of Michigan; Ann Arbor MI USA

8. Division of Pediatric Pulmonary Medicine; University of Michigan; Ann Arbor MI USA

9. Wisconsin State Lab of Hygiene; Madison WI USA

10. Department of Pediatrics; University of Wisconsin School of Medicine and Public Health; Madison WI USA

Funder

National Institutes of Health

National Heart, Lung, and Blood Institute

National Institute of Diabetes and Digestive and Kidney Diseases

Children's Hospital of Wisconsin Research Institute and Ann Hardy Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference49 articles.

1. Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening;Baker;J Cyst Fibros,2011

2. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene;Sosnay;Nat Genet,2013

3. New challenges in the diagnosis and management of cystic fibrosis;Levy;J Pediatr,2015

4. Inconclusive diagnosis of cystic fibrosis after newborn screening;Ooi;Pediatrics,2015

5. Variant cystic fibrosis phenotypes in the absence of CFTR mutations;Groman;New Engl J Med,2002

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