Nadia Elkhartoufi
Hôpital Necker-Enfants Malades(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Genetic Syndromes and Imprinting, Fetal and Pediatric Neurological Disorders, Renal and related cancers
Most-Cited Works
- → Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes(2010)282 cited
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → A HomozygousPDE6DMutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium(2013)126 cited
- → TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone(2015)105 cited
- → Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome(2015)93 cited
- → Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation(2016)92 cited
- → NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies(2010)89 cited
- → CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation(2009)87 cited
- → Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders(2013)83 cited
- → Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity(2014)60 cited