7 documents found, page 1 of 1
Bi-allelic variants in three genes encoding distinct subunits of the vesicular ...
Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, TamarFunding Information: This research was made possible through access to data in the National Genomic Research Library, which is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The National Genomic Research Library holds data provided by patients and collected by the NHS as part of their care and data collected as part of their participation in research. T...
Genetic profile of syndromic retinitis pigmentosa in Portugal
Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; Sousa, Ana Berta; Peter, Virginie G.Funding Information: Open access funding provided by FCT|FCCN (b-on). Part of this research was supported by EJPRD19-234 (Solve-RET) (to CR) regarding patients from Instituto Gama Pinto (IOGP). No other funding was received. Publisher Copyright: © 2024, The Author(s).; Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% o...
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neu...
Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jérôme E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre310030_204285s from the Swiss National Science Foundation to C.R. J.M.R. is member of the European Reference Network for Rare Eye Diseases (ERN-EYE), which is co-funded by the Health Program of the European Union under the Framework Partnership Agreement n\u00B0739534. The authors thank the Transgenesis, Neurobehavioral and Metabolism, Necker Bioimage Analysis, Cell Imaging, Histology (Sofian Ameur, Damien Conr...
Detection of elusive DNA copy-number variations in hereditary disease and cance...
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G.; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, NilsPublisher Copyright: © 2024 The Author(s); Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult to identify in mainstream sequencing projects, especially involving exome sequencing, because they often occur in DNA regions that are not targeted for analysis...
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-s...
Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, AleksandrPublisher Copyright: Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.; Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.-69G>T [GenBank: NM_001173991.3]), in individ...
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q...
Iglesias-Romero, Ana Belén; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew RCopyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.; Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four ...
The first genetic landscape of inherited retinal dystrophies in Portuguese pati...
Peter, Virginie G; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Pescini Gobert, RosannaInherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, association of clinical phenotypes with genotypes can be very challenging, and molecular diagnosis is essential for genetic counseling and correct management of...