Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
Mohammed A. M. Derar, Jing Yu, Christopher M. Watson, Martin McKibbin et autres
0 citationsEuropean Journal of Human Genetics
Carmel Toomes
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159Publications signalées
6430Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Retinal Development and DisordersRetinal Diseases and TreatmentsRNA regulation and diseaseUbiquitin and proteasome pathwaysMitochondrial Function and Pathology
Publications récentes
Diagnostic Discovery Of Structural Variants causing Foveal Hypoplasia Using SVRare and Long Read Nanopore Sequencing
Mohammed Derar, Jing Yu, Christopher M. Watson, Martin McKibbin et autres
0 citationsResearch Square
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres
14 citationsNature Genetics
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR
Emma Clement, Michel Michaelides, Angelos Kalitzeos, Genevieve Wright et autres
2 citationsJournal of Medical Genetics
RetiGene, a comprehensive gene atlas for inherited retinal diseases
Carlo Rivolta, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres
34 citationsThe American Journal of Human Genetics
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres
2 citationsbioRxiv (Cold Spring Harbor Laboratory)
Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models
Rita Ferla, Eugenio Pugni, Mariangela Lupo, Paola Tiberi et autres
18 citationsScience Advances
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres
15 citationsmedRxiv
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells
Samar Yahya, Christopher M. Watson, Ian Carr, Martin McKibbin et autres
10 citationsMolecular Diagnosis & Therapy
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
Benjamin McClinton, Christopher M. Watson, Laura A. Crinnion, Martin McKibbin et autres
12 citationsLaboratory Investigation
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee et autres
11 citationsMolecular Genetics & Genomic Medicine
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn et autres
29 citationsFrontiers in Cell and Developmental Biology
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