Associated Papers
Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
Zhou D et al.
Biomolecules, 2025
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC et al.
Annual Review of Genomics and Human Genetics, 2022
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT et al.
Journal of Medical Genetics, 2017
Motile and non-motile cilia in human pathology: from function to phenotypes.
Mitchison HM et al.
The Journal of Pathology, 2017
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Szymanska K et al.
Journal of Pediatric Genetics, 2014
[Genetic complexity of ciliopathies and novel genes identification].
Bachmann-Gagescu R
Medecine Sciences : M/s, 2014
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O et al.
Clinical Genetics, 2014
Primary cilia in neurodevelopmental disorders.
Valente EM et al.
Nature Reviews. Neurology, 2014
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M et al.
The Lancet. Neurology, 2013
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
Walsh DM et al.
European Journal of Medical Genetics, 2013
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A et al.
Human Molecular Genetics, 2012
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S et al.
American Journal of Human Genetics, 2012
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.
Simms RJ et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.
Cheng YZ et al.
Plos One, 2012
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Louie CM et al.
Nature Genetics, 2010
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
Chaabouni M et al.
La Tunisie Medicale, 2007
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K et al.
Journal of the American Society of Nephrology : Jasn, 2007
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA et al.
Journal of Medical Genetics, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM et al.
Annals of Neurology, 2006
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Kroes HY et al.
European Journal of Medical Genetics, 0
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM et al.
European Journal of Medical Genetics, 0