Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.
Eschment M et al.
Journal of Cell Science, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Srivastava S et al.
Fetal and Pediatric Pathology, 2022
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Joubert syndrome: Molecular basis and treatment.
Spahiu L et al.
Journal of Mother and Child, 2022
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.
Spahiu L et al.
F1000research, 2022
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2021
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B et al.
American Journal of Ophthalmology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2017
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.
Eckmann-Scholz C et al.
Archives of Gynecology and Obstetrics, 2012
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Wiszniewski W et al.
Human Genetics, 2011
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
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L et al.
American Journal of Medical Genetics. Part A, 2009
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2008