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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.
Arroyo Gonzalez GM et al.
Cureus, 2023
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review.
Zhong F et al.
European Journal of Medical Genetics, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG 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
Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.
Santos DF et al.
Clinical Ophthalmology (auckland, N.z.), 2022
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
Michelen-Gómez E et al.
Puerto Rico Health Sciences Journal, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Guardiola GA et al.
Clinical Ophthalmology (auckland, N.z.), 2021
Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti M et al.
Scientific Reports, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I et al.
Scientific Reports, 2018
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
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
Huang H et al.
Plos One, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2016
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
Wang X et al.
Plos One, 2016
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2014
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2011
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
Imhoff O et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Azari AA et al.
Investigative Ophthalmology & Visual Science, 2006
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H et al.
European Journal of Human Genetics : Ejhg, 2005
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL et al.
American Journal of Human Genetics, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K et al.
American Journal of Human Genetics, 2003
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K et al.
Nature Genetics, 2002