User profiles for F. Blanco-Kelly
 | Fiona Blanco KellyMD, PhD. Clincal Genetics Consultant Verified email at quironsalud.es Cited by 2524 |
[HTML][HTML] An update on the genetics of usher syndrome
JM Millán, E Aller, T Jaijo, F Blanco-Kelly… - Journal of …, 2011 - hindawi.com
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …
[HTML][HTML] Attention deficit hyperactivity and autism spectrum disorders as the core symptoms of AUTS2 syndrome: description of five new patients and update of the …
C Sanchez-Jimeno, F Blanco-Kelly, F López-Grondona… - Genes, 2021 - mdpi.com
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental
delay characterized by intellectual disability, autistic features, and microcephaly, also …
delay characterized by intellectual disability, autistic features, and microcephaly, also …
[HTML][HTML] Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
…, M Del Pozo-Valero, B Almoguera, F Blanco-Kelly… - Scientific reports, 2021 - nature.com
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors,
are disorders characterized by elevated heterogeneity, both at the clinical and genetic …
are disorders characterized by elevated heterogeneity, both at the clinical and genetic …
[HTML][HTML] Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
…, E Vallespín, J Aguirre-Lambán, F Blanco-Kelly… - Molecular …, 2010 - ncbi.nlm.nih.gov
Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized
by progressive loss of vision. The aim of this study was to identify the causative mutations in …
by progressive loss of vision. The aim of this study was to identify the causative mutations in …
Genetics and epidemiology of aniridia: Updated guidelines for genetic study
F Blanco-Kelly, M Tarilonte, M Villamar… - Archivos de la Sociedad …, 2021 - Elsevier
Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular
manifestations, with a high clinical variability and overlapping with different abnormalities …
manifestations, with a high clinical variability and overlapping with different abnormalities …
[HTML][HTML] Targeted next generation sequencing for molecular diagnosis of Usher syndrome
…, RP Vázquez-Manrique, F Blanco-Kelly… - Orphanet journal of rare …, 2014 - Springer
Background Usher syndrome is an autosomal recessive disease that associates sensorineural
hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is …
hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is …
[HTML][HTML] Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
…, A Bustamante-Aragonés, F Blanco-Kelly… - Scientific reports, 2021 - nature.com
Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted
that variants need to be validated using Sanger sequencing before reporting. Validation of all …
that variants need to be validated using Sanger sequencing before reporting. Validation of all …
Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients
F Blanco-Kelly, T Jaijo, E Aller… - JAMA …, 2015 - jamanetwork.com
Importance A new statistical approach is needed to describe the clinical differences
between type I and type II Usher syndrome and between the 2 most frequent mutations in …
between type I and type II Usher syndrome and between the 2 most frequent mutations in …
[HTML][HTML] Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
F Martinez-Granero, F Blanco-Kelly… - NPJ genomic …, 2021 - nature.com
Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders
(NDDs) do not include the use of next generation sequencing (NGS) and are still based …
(NDDs) do not include the use of next generation sequencing (NGS) and are still based …
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families
…, MI Lopez-Molina, B Garcia-Sandoval, F Blanco-Kelly… - Ophthalmology, 2013 - Elsevier
Objective To provide a comprehensive overview of all detected mutations in the ABCA4
gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's …
gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's …