Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.
Demir Ş et al.
European Journal of Pediatrics, 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Zacchia M et al.
Kidney International Reports, 2025
Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient.
Sather RN et al.
Ophthalmic Genetics, 2024
Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.
Cetiner M et al.
Orphanet Journal of Rare Diseases, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H et al.
European Journal of Human Genetics : Ejhg, 2024
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 utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Brar BK et al.
Prenatal Diagnosis, 2024
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC et al.
The British Journal of Ophthalmology, 2023
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S et al.
American Journal of Medical Genetics. Part A, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.
Hsu Y et al.
Molecular Therapy. Nucleic Acids, 2023
Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.
Melluso A et al.
Therapeutics and Clinical Risk Management, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Zamani M et al.
Molecular Genetics and Genomics : Mgg, 2022
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Idiopathic intracranial hypertension in a child with Bardet-Biedl syndrome.
Yu AT et al.
Ophthalmic Genetics, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
Nasser F et al.
Genes, 2022
Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
Mone F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.
Caba L et al.
Journal of Multidisciplinary Healthcare, 2022
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK et al.
Investigative Ophthalmology & Visual Science, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C et al.
Clinical Genetics, 2021
Reproduction Function in Male Patients With Bardet Biedl Syndrome.
Koscinski I et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis.
Paolacci S et al.
Congenital Anomalies, 2019
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E et al.
Italian Journal of Pediatrics, 2019
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB et al.
Bmc Cancer, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L et al.
Clinical Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Clinical, molecular genetics and therapeutic aspects of syndromic obesity.
Geets E et al.
Clinical Genetics, 2019
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 2017
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M et al.
Scientific Reports, 2016
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
Álvarez-Satta M et al.
Clinical Genetics, 2014