Her primary areas of study are Genetics, Mutation, Bardet–Biedl syndrome, Locus and Ciliopathies. Her work on Genetics deals in particular with Genetic heterogeneity, Gene, Retinitis pigmentosa, Missense mutation and Ciliopathy. Her studies in Mutation integrate themes in fields like Phenotype, Dwarfism, Seckel syndrome, Mitochondrial DNA and Optic neuropathy.
Her study focuses on the intersection of Bardet–Biedl syndrome and fields such as Zebrafish with connections in the field of Oligogenic Inheritance and Convergent extension. Hélène Dollfus has included themes like Dystrophy, Stargardt's disease, Retinal Dystrophies and Disease in her Locus study. Her Ciliopathies research includes elements of Cilium, Intraflagellar transport and Polycystic kidney disease.
Her primary scientific interests are in Genetics, Bardet–Biedl syndrome, Gene, Mutation and Phenotype. Her study in Genetic heterogeneity, Exon, Missense mutation, Ciliopathy and Retinitis pigmentosa is done as part of Genetics. Her Ciliopathy research is multidisciplinary, relying on both Cilium, Ciliopathies, Allele and Intraflagellar transport.
Hélène Dollfus works mostly in the field of Bardet–Biedl syndrome, limiting it down to concerns involving Internal medicine and, occasionally, Pathology. Hélène Dollfus works in the field of Gene, namely Gene mutation. The various areas that Hélène Dollfus examines in her Mutation study include Microcephaly and Bioinformatics.
Her primary areas of investigation include Genetics, Bardet–Biedl syndrome, Ciliopathy, Gene and Cilium. Rod-cone dystrophy, Allele, Exon, Missense mutation and Mutation are the primary areas of interest in her Genetics study. Her Missense mutation study which covers Dysplasia that intersects with Phenotype.
Her work deals with themes such as Retinal degeneration, Alström syndrome, Pediatrics and Endocrinology, which intersect with Bardet–Biedl syndrome. Her Ciliopathy research incorporates elements of Polydactyly and Exome sequencing. Her Cilium research is multidisciplinary, incorporating perspectives in Biophysics, Ciliopathies, Retinitis pigmentosa and Small GTPase.
Hélène Dollfus focuses on Genetics, Gene, Ciliopathy, Cilium and Bardet–Biedl syndrome. Proband, Sanger sequencing, RNA Helicase A, DDX3X and DEAD box are the core of her Genetics study. She combines subjects such as Immunology and Neurological disorder with her study of Gene.
Her Ciliopathy study incorporates themes from Epistasis, Nonsynonymous substitution, Allele, Mendelian inheritance and Genetic architecture. The study incorporates disciplines such as Conformational change, Small GTPase and BBSome in addition to Cilium. Her research in Bardet–Biedl syndrome focuses on subjects like Retinitis pigmentosa, which are connected to Compound heterozygosity.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Alison J Ross;Helen May-Simera;Erica R Eichers;Masatake Kai.
Nature Genetics (2005)
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I;Rozet Jm;Calvas P;Gerber S.
Nature Genetics (1996)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy.
Human Mutation (2004)
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Carmen C Leitch;Norann A Zaghloul;Erica E Davis;Corinne Stoetzel.
Nature Genetics (2008)
Mutation spectrum and splicing variants in the OPA1 gene.
Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus.
Human Genetics (2001)
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas.
Nature Genetics (2011)
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki.
Nature Genetics (2010)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller.
Nature Genetics (2006)
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