Carlo Castellani

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Philip M. Farrell, Beryl J. Rosenstein, Terry B. White et al. · The Journal of Pediatrics · 2008 · 1.1K citations · Full text

Early Diagnosis, Neonatology, Pediatrics +4

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor et al. · Nature Genetics · 2013 · 613 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +12

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

Heiko Witt, Miklós Sahin‐Tóth, Olfert Landt et al. · Nature Genetics · 2006 · 248 citations · Full text

Pancreatic Cancer, Pancreatic Fluid Collection, Immunology +5

Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis

Chee Y. Ooi, Ruslan Dorfman, Marco Cipolli et al. · Gastroenterology · 2010 · 246 citations · Full text

Fibrosis, Gastroenterology, Pathology +2