Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

Hedy Ginzberg, Janey Shin, Lynda Ellis, +9

The Journal of Pediatrics

Isolated CasesPhenotypic ManifestationsMendelian DisorderGenetic DisorderShwachman Syndrome +4

VX-809 and Related Corrector Compounds Exhibit Secondary Activity Stabilizing Active F508del-CFTR after Its Partial Rescue to the Cell Surface

Paul D. W. Eckford, Mohabir Ramjeesingh, Steven V. Molinski, +11

Chemistry & Biology

<scp>O</scp> rkambi® and amplifier co‐therapy improves function from a rare <i> <scp>CFTR</scp> </i> mutation in gene‐edited cells and patient tissue

Steven V. Molinski, Saumel Ahmadi, Wan Ip, +18

EMBO Molecular Medicine

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

Wan Ip, Annie Dupuis, Lynda Ellis, +6

The Journal of Pediatrics

Pancreatic CancerDiabetesPathologyPancreatic PhenotypeShwachman-diamond Syndrome +3

β-Adrenergic Sweat Secretion as a Diagnostic Test for Cystic Fibrosis

Paul Quinton, Laura Molyneux, Wan Ip, +7

American Journal of Respiratory and Critical Care Medicine

Efficacy and safety of topical WBI-1001 in patients with mild to severe atopic dermatitis: results from a 12-week, multicentre, randomized, placebo-controlled double-blind trial

Robert Bissonnette, Yves Poulin, Yabo Zhou, +6

British Journal of Dermatology

Cystic fibrosis gene modifier <i>SLC26A9</i> modulates airway response to CFTR-directed therapeutics

Lisa J. Strug, Tanja Gonska, Gengming He, +19

Human Molecular Genetics

Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia

Saumel Ahmadi, Zoltán Bozóky, Michelle Di Paola, +16

npj Genomic Medicine

Evidence for a Causal Relationship Between Early Exocrine Pancreatic Disease and Cystic Fibrosis–Related Diabetes: A Mendelian Randomization Study

David Soave, Melissa Miller, Katherine Keenan, +9

Diabetes

Genetic EpidemiologyGastroenterologyMetabolic SyndromeDisease SusceptibilityDiabetes Epidemiology +14

Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements

David C. Wilson, Lynda Ellis, Julian Zielenski, +6

The Journal of Pediatrics

Diagnostic TestDiagnosisBiostatisticsPossible RoleRadiology