| human | Q5 |
| P269 | IdRef ID | 09263673X |
| P496 | ORCID iD | 0000-0002-8569-3277 |
| P1053 | ResearcherID | F-4492-2017 |
| P214 | VIAF ID | 203220936 |
| P108 | employer | French National Institute of Health and Medical Research | Q1474517 |
| P734 | family name | Thomas | Q1413324 |
| Thomas | Q1413324 | ||
| Thomas | Q1413324 | ||
| P735 | given name | Sophie | Q14942517 |
| Sophie | Q14942517 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q37624332 | A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium |
| Q34427667 | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS |
| Q56232633 | A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern |
| Q93177489 | Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice |
| Q42921863 | BBS10 mutations are common in 'Meckel'-type cystic kidneys |
| Q88712395 | Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease |
| Q94938639 | Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling |
| Q24650658 | CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation |
| Q47807172 | Chromosome 21 KIR channels in brain development. |
| Q92610447 | Cilia in hereditary cerebral anomalies |
| Q40873117 | Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation |
| Q57199603 | Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy |
| Q44593456 | Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome. |
| Q38903739 | Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development |
| Q34050951 | Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome |
| Q37310662 | Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease |
| Q24303601 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus |
| Q97071737 | Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene |
| Q24629863 | Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model |
| Q43232472 | Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. |
| Q38663502 | Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. |
| Q34130018 | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy |
| Q28235961 | Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence |
| Q36934606 | Human neural crest cells display molecular and phenotypic hallmarks of stem cells |
| Q36209043 | IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. |
| Q39774231 | Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity |
| Q34183496 | KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes |
| Q59546851 | Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis |
| Q35788558 | Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6 |
| Q40086269 | Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma |
| Q40746137 | Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome |
| Q55016377 | Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. |
| Q24625476 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes |
| Q41920126 | Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations. |
| Q34309956 | Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome |
| Q35954123 | Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation |
| Q34054602 | Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies |
| Q52571941 | Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. |
| Q37185993 | Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders |
| Q53521513 | Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation. |
| Q110659572 | TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human |
| Q24295300 | TCTN3 mutations cause Mohr-Majewski syndrome |
| Q35394882 | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
| Q34341021 | Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). |
| Q41918179 | WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells |
| Q59546858 | Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1 |
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