Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
Broadgate S et al.
Progress in Retinal and Eye Research, 2017
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
Khan KN et al.
Clinical Genetics, 2017
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L et al.
Human Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats.
Alhaddad H et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2014
Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.
Huang L et al.
Molecular Medicine Reports, 2013
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
Reinis A et al.
Acta Ophthalmologica, 2013
PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
Köhn L et al.
Ophthalmic Genetics, 2010
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Jiang L et al.
Advances in Experimental Medicine and Biology, 2010
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Köhn L et al.
Advances in Experimental Medicine and Biology, 2008
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Köhn L et al.
European Journal of Human Genetics : Ejhg, 2007
AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3.
Bakhoum MF et al.
Retinal Cases & Brief Reports, 0