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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2164
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- Publication type:
- Article
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 5, doi. 10.1002/ajmg.c.31965
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- Publication type:
- Article
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1826, doi. 10.1002/ajmg.a.37690
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- Publication type:
- Article
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 755, doi. 10.1038/ng1824
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- Publication type:
- Article
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
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- Nature Genetics, 1999, v. 22, n. 3, p. 255, doi. 10.1038/10314
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- Publication type:
- Article
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 11, p. 1077, doi. 10.1038/nsmb1303
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- Publication type:
- Article
The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress.
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- Brain & Behavior, 2017, v. 7, n. 5, p. n/a, doi. 10.1002/brb3.695
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- Publication type:
- Article
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45381-1
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- Publication type:
- Article
Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104281
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- Publication type:
- Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 132, doi. 10.1038/ejhg.2013.76
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- Publication type:
- Article
Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’.
- Published in:
- 2006
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- Publication type:
- Letter
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 5, p. 420, doi. 10.1038/sj.ejhg.5200981
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- Publication type:
- Article
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 865, doi. 10.1038/sj.ejhg.5200884
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- Publication type:
- Article
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
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- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 245, doi. 10.1038/sj.ejhg.5200797
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- Publication type:
- Article
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
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- Publication type:
- Article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa.
- Published in:
- 2015
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- Publication type:
- Journal Article
Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 312, doi. 10.1001/jamaophthalmol.2014.5251
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- Publication type:
- Article
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
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- 2022
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- Publication type:
- journal article
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
- Published in:
- Molecular Vision, 2022, v. 28, p. 57
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- Publication type:
- Article
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
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- Molecular Vision, 2022, v. 28, p. 48
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- Publication type:
- Article
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 688, doi. 10.1111/cge.13721
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- Publication type:
- Article
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.
- Published in:
- Molecular Diagnosis & Therapy, 2023, v. 27, n. 4, p. 525, doi. 10.1007/s40291-023-00656-z
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- Publication type:
- Article
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 543, doi. 10.1002/mgg3.164
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- Publication type:
- Article
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1417, doi. 10.1093/hmg/ddaa041
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- Publication type:
- Article
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 10, p. 1863, doi. 10.1093/hmg/ddx090
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- Publication type:
- Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
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- Publication type:
- Article
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
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- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3578, doi. 10.1093/hmg/ddw203
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- Publication type:
- Article
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5317, doi. 10.1093/hmg/ddu247
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- Publication type:
- Article
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253
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- Publication type:
- Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
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- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2189, doi. 10.1093/hmg/ddt616
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- Publication type:
- Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 776, doi. 10.1093/hmg/ddr509
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- Publication type:
- Article
SLC38A8 mutation spectrum in foveal hypoplasia.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.208
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- Publication type:
- Article
Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 17, n. 3, p. 151, doi. 10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3
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- Publication type:
- Article
Risk of psychosis in Yorkshire African, Caribbean and Mixed Ethnic communities.
- Published in:
- Journal of Psychiatric Intensive Care, 2021, v. 17, n. 2, p. 107, doi. 10.20299/jpi.2021.005
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- Publication type:
- Article
Risk of psychosis in Yorkshire South Asians.
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- Journal of Psychiatric Intensive Care, 2019, v. 15, n. 2, p. 117, doi. 10.20299/jpi.2019.007
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- Publication type:
- Article
Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions.
- Published in:
- BMC Biotechnology, 2003, v. 3, p. 18, doi. 10.1186/1472-6750-3-18
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- Publication type:
- Article
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 567, doi. 10.1002/humu.24187
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- Publication type:
- Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
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- Publication type:
- Article
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41940-5
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- Publication type:
- Article
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome.
- Published in:
- Oral Diseases, 2019, v. 25, n. 1, p. 182, doi. 10.1111/odi.12955
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- Publication type:
- Article
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1369, doi. 10.1093/hmg/10.13.1369
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- Publication type:
- Article
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2121, doi. 10.1093/hmg/8.11.2121
- By:
- Publication type:
- Article
Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45381-1
- By:
- Publication type:
- Article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191
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- Publication type:
- Article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
- Published in:
- Genes, 2018, v. 9, n. 1, p. 21, doi. 10.3390/genes9010021
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- Publication type:
- Article
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.
- Published in:
- Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M
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- Publication type:
- Article
Mutations and polymorphisms in the human peripherin- RDS gene and their involvement in inherited retinal degeneration.
- Published in:
- Human Mutation, 1996, v. 8, n. 4, p. 297, doi. 10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5
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- Publication type:
- Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
- Published in:
- Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
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- Publication type:
- Article