Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

(2021) Joanna Walczak‐Sztulpa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

(2021) Cenna Doornbos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cytomegalovirus Infection in Infancy May Increase the Risk of Subsequent Epilepsy and Autism Spectrum Disorder in Childhood

(2021) Chien-Heng Lin et al.   Children-Basel

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

(2020) Joanna Walczak-Sztulpa et al.   Orphanet Journal of Rare Diseases

Cilia and polycystic kidney disease

(2020) Ming Ma   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

(2019) Gabrielle Wheway et al.   Frontiers in Genetics

INTU -related oral-facial-digital syndrome type VI: A confirmatory report

(2018) A.-L. Bruel et al.   CLINICAL GENETICS

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

(2018) Véronique Geoffroy et al.   HUMAN MUTATION

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

(2016) Dino Maglic et al.   HUMAN MUTATION

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

(2016) Elise Schaefer et al.   JOURNAL OF HUMAN GENETICS

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

(2016) Michinori Toriyama et al.   NATURE GENETICS

The ophthalmic phenotype ofIFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

(2015) Inam N Bifari et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

(2013) Kerry A. Miller et al.   PLoS Genetics

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SnapShot: Intraflagellar Transport

(2009) Douglas G. Cole et al.   CELL