J. Beucher

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

Radial-spoke Defects, Pathology, Loss-of-function Mutations +3

Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up

J. Beucher, Emmanuelle Leray, Eric Deneuville et al. · The Journal of Pediatrics · 2010 · 54 citations

Early Diagnosis, Newborn Screening, False-positive Results +7

AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

J. Beucher, Pierre‐Yves Boëlle, Pierre‐François Busson et al. · PLoS ONE · 2012 · 43 citations · Full text

Long‐term evaluation of respiratory status after esophageal atresia repair

J. Beucher, Julianne Wagnon, Vijaya T. Daniel et al. · Pediatric Pulmonology · 2012 · 34 citations

Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients

Harriet Corvol, J. Beucher, Pierre‐Yves Boëlle et al. · Journal of Cystic Fibrosis · 2011 · 23 citations · Full text

Haplotype Determination, Lung Disease Severity, Genetic Disorder +7