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| 35941319 | Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1. | Hum Genet | 2023 |
| 37240074 | WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. | Int J Mol Sci | 2023 |
| 37333224 | Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders. | bioRxiv | 2023 |
| 36592621 | Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net. | Ophthalmic Res | 2023 |
| 36543582 | ROSAH syndrome mimicking chronic uveitis. | Clin Genet | 2023 |
| 36878196 | Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey. | Ophthalmic Res | 2023 |
| 36647077 | Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. | Orphanet J Rare Dis | 2023 |
| 36596648 | Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies. | Cold Spring Harb Perspect Med | 2023 |
| 34897289 | Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. | Eur J Hum Genet | 2022 |
| 35444683 | The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol. | Front Genet | 2022 |
| 35759666 | The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy. | Proc Natl Acad Sci U S A | 2022 |
| 35630074 | Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome? | Medicina (Kaunas) | 2022 |
| 35457110 | Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants. | Int J Mol Sci | 2022 |
| 36356613 | Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period. | Lancet Diabetes Endocrinol | 2022 |
| 35178761 | In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet-Biedl syndrome. | Clin Genet | 2022 |
| 35178068 | Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study. | Front Genet | 2022 |
| 35332618 | Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. | Hum Mutat | 2022 |
| 35170016 | First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. | Clin Genet | 2022 |
| 32994277 | Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance. | Diabetes | 2021 |
| 33733400 | European Reference Networks: challenges and opportunities. | J Community Genet | 2021 |
| 33890303 | Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype. | Clin Genet | 2021 |
| 34948090 | The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>. | Int J Mol Sci | 2021 |
| 34940782 | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | Invest Ophthalmol Vis Sci | 2021 |
| 34548540 | Characterization of SSBP1-related optic atrophy and foveopathy. | Sci Rep | 2021 |
| 34720600 | Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome. | Nat Sci Sleep | 2021 |
| 34683941 | Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice. | Pharmaceutics | 2021 |
| 34385517 | Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy. | Sci Rep | 2021 |
| 34203883 | Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. | Int J Mol Sci | 2021 |
| 34199217 | Severe Phenotype in Patients with Large Deletions of <i>NF1</i>. | Cancers (Basel) | 2021 |
| 34023905 | AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. | Nucleic Acids Res | 2021 |
| 33169370 | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | Clin Genet | 2021 |
| 33354943 | Improved performance and safety from Argus II retinal prosthesis post-approval study in France. | Acta Ophthalmol | 2021 |
| 33124039 | WDR34, a candidate gene for non-syndromic rod-cone dystrophy. | Clin Genet | 2021 |
| 31363182 | Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. | Genet Med | 2020 |
| 31978614 | A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum. | Eur J Med Genet | 2020 |
| 33417209 | Heimler Syndrome. | Adv Exp Med Biol | 2020 |
| 32835378 | Reproduction Function in Male Patients With Bardet Biedl Syndrome. | J Clin Endocrinol Metab | 2020 |
| 32973878 | Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in <i>ALMS1</i>, Including a <i>de novo</i> Variation. | Front Genet | 2020 |
| 32958032 | Consensus clinical management guidelines for Alström syndrome. | Orphanet J Rare Dis | 2020 |
| 32361989 | High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. | Clin Genet | 2020 |
| 32427967 | Hydroxychloroquine hitting the headlines-retinal considerations. | Eye (Lond) | 2020 |
| 31549751 | Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. | Hum Mutat | 2020 |
| 30614526 | Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. | Clin Genet | 2019 |
| 31884610 | Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing. | Adv Exp Med Biol | 2019 |
| 31416457 | Correction to: An ontological foundation for ocular phenotypes and rare eye diseases. | Orphanet J Rare Dis | 2019 |
| 31302159 | In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies. | Exp Eye Res | 2019 |
| 31422817 | Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. | Am J Hum Genet | 2019 |
| 31191616 | A New <i>SLC10A7</i> Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. | Front Genet | 2019 |
| 31443423 | One <i>NF1</i> Mutation may Conceal Another. | Genes (Basel) | 2019 |
| 31303482 | The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. | Structure | 2019 |