List of works - Thomas W Ferkol

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

scientific article published on 12 April 2016

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

scientific article

Cystic fibrosis pulmonary exacerbations

scientific article

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

scientific article

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

scientific article published on 31 January 2011

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

scientific article

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic

scientific article published on 31 December 2020

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

scientific article

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

scientific article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

scientific article published on March 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Picking up speed: advances in the genetics of primary ciliary dyskinesia

scientific article

Prevention of cystic fibrosis: The beginning of the end?

scientific article published on 01 March 2019

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients

scientific article published on 27 July 2016

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

scientific article published on 01 January 2019

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

scientific article published on December 2013

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

List of works by Thomas W Ferkol

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Cystic fibrosis pulmonary exacerbations

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Picking up speed: advances in the genetics of primary ciliary dyskinesia

Prevention of cystic fibrosis: The beginning of the end?

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia