• A case of siblings with juvenile retinitis pigmentosa associated with <em>NEK1</em> gene variants
• A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
• A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
• A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
• A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome
• A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
• An exome sequencing strategy to diagnose lethal autosomal recessive disorders
• An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
• Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene <em>PTDSS1</em> in skeletal cell lineages
• Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages
• Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
• Autopsy observations in lethal short-rib polydactyly syndromes
• Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
• Characterization of a novel deep-intronic variant in <em>DYNC2H1</em> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
• Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
• Ciliary Dyneins and Dynein Related Ciliopathies
• Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
• Clinical genetics and pathobiology of ciliary chondrodysplasias
• Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy
• Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
• Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
• Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
• Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
• Corrigendum to "Identification of a c.544C&gt;T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics &amp; Gynecology 56 (2017) 857-862]
• Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]
• Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
• Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation
• Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
• Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
• Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation
• Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia
• Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy
• Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach
• Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
• Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice
• Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
• Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
• Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
• Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome
• Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene
• Fetal ciliopathies: a retrospective observational single-center study
• First-trimester prenatal diagnosis of Ellis-van Creveld syndrome
• Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
• Identical <em>IFT140</em> Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis
• Identification of a c.544C&gt;T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome
• Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome
• Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing
• IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration
• IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
• IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways
• In reply to "Short-rib syndrome Beemer-Langer type, a short history"
• INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder
• Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
• Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
• Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys
• Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome
• Molecular basis underlying the ciliary defects caused by <em>IFT52</em> variations found in skeletal ciliopathies
• Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy
• Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
• Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
• Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
• Mutations in IFT-A satellite core component genes <em>IFT43</em> and <em>IFT121</em> produce short rib polydactyly syndrome with distinctive campomelia
• Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
• Mutations in IFT80 cause SRPS Type IV. Report of two families and review
• Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
• New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
• Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype
• Overlapping phenotypes in OFD type II and OFD type VI: report of two cases
• Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia
• Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus
• Radiological and histopathological features of short rib-polydactyly syndrome type III and identification of two novel DYNC2H1 variants
• Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel <em>DYNC2H1</em> variants
• Recurrent short rib polydactyly syndrome
• Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
• Review: Cytoplasmic dynein motors in photoreceptors
• Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients
• Short rib syndrome Beemer-Langer type, a short history
• Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene
• Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
• Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of <em>DYNC2H1</em> gene
• Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene
• Skeletal ciliopathies: a pattern recognition approach
• SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development
• TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human
• Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios
• Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III
• Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis
• The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
• The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes
• The splice c.1815G&gt;A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
• The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
• Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease
• WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-kappaB pathway in cilia
• WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
• WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
• Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
• Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
• Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
• Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement