Skip to Main Content

Author Details

Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
1991
254
61
PMIDPaper TitleJournal TitlePublished Year
36084042Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Hum Mol Genet2023
37667371Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.Orphanet J Rare Dis2023
37460203A multilayered approach to the analysis of genetic data from individuals with suspected albinism.J Med Genet2023
37321975MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.Clin Genet2023
37155940Reply.Retina2023
37340071Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study.Sci Rep2023
37206923Ca<sub>v</sub>1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.Front Cell Dev Biol2023
37107549The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.Genes (Basel)2023
36705323Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.Elife2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
35934205Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.Ophthalmology2023
36165842LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.Retina2023
36163489Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy.Eye (Lond)2023
34587495Primary X-linked megalocornea presenting in adulthood.Am J Ophthalmol2022
35633130Clinical and genetic findings in TRPM1-related congenital stationary night blindness.Acta Ophthalmol2022
35561216Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.Proc Natl Acad Sci U S A2022
37397526Atrial Septal Defect (ASD) associated long non-coding RNA <i>STX18-AS1</i> maintains time-course of <i>in vitro</i> cardiomyocyte differentiation.Genes Dis2022
36533287Data on cardiac lncRNA <i>STX18-AS1</i> expression in developing human hearts and function during <i>in vitro</i> hESC-cardiomyocyte differentiation.Data Brief2022
35933957Generation of a human induced pluripotent stem cell line carrying the TYR c.575C&gt;A (p.Ser192Tyr) and c.1205G&gt;A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.Stem Cell Res2022
36191840Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.J Mol Diagn2022
33879512Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.J Med Genet2022
33766936Improving the clinical interpretation of missense variants in X linked genes using structural analysis.J Med Genet2022
35246174Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.Orphanet J Rare Dis2022
35065709MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.Am J Hum Genet2022
35261386Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.Otol Neurotol2022
32817297Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.J Med Genet2021
33729154Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.Elife2021
33584831A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.Front Genet2021
34906171Genetic testing and diagnosis of inherited retinal diseases.Orphanet J Rare Dis2021
34125159North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.Invest Ophthalmol Vis Sci2021
33957466High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.Cancer Genet2021
34171171The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.Clin Otolaryngol2021
33200471Small molecules restore the function of mutant CLC5 associated with Dent disease.J Cell Mol Med2021
33137351Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.Ophthalmology2021
33026783Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.Otol Neurotol2021
33353976Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2021
31048080Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.Eur J Med Genet2020
31836858Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.Eur J Hum Genet2020
31848469Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2020
31648626Cochlear implantation in the era of genomic medicine.Cochlear Implants Int2020
33213369Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review.BMC Cardiovasc Disord2020
32748437Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.Clin Genet2020
32991388Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.J Neuroophthalmol2020
33022222Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.Am J Hum Genet2020
32421148Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.Invest Ophthalmol Vis Sci2020
32313206Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.Eur J Hum Genet2020
32176120Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.Otol Neurotol2020
31455904A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.Eye (Lond)2020
30582441Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.Circ Res2019
31719542Clinical and genetic variability in children with partial albinism.Sci Rep2019
  • 1 - 50 of 254

Recommended Authors

Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Career Start Year 2008
Number of shared co-authors 19
Adam P DeLuca
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2008
Number of shared co-authors 6
Shalini N Jhangiani
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 42
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 5
Emma L Baple
University of Exeter Medical School, Royal Devon & Exeter Hospital
Career Start Year 2007
Number of shared co-authors 45
David R Adams
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2007
Number of shared co-authors 22
Bryn D Webb
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 5
Nara Sobreira
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 27
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 33
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 24
Sylvain Hanein
Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University
Career Start Year 2001
Number of shared co-authors 5
Jeaneen L Andorf
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2000
Number of shared co-authors 9
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 21
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 35
Terry A Braun
University of Iowa
Career Start Year 1999
Number of shared co-authors 9
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Career Start Year 1999
Number of shared co-authors 35
Wojciech Wiszniewski
Oregon Health & Sciences University
Career Start Year 1998
Number of shared co-authors 15
Ariana Kariminejad
Clinical Genetics Deaprtment
Career Start Year 1996
Number of shared co-authors 21
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 59
Ian D Krantz
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 33
Nicholas Katsanis
Northwestern University
Career Start Year 1995
Number of shared co-authors 48
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 17
Radha Ayyagari
Shiley Eye Institute, University of California San Diego
Career Start Year 1993
Number of shared co-authors 10
H??l??ne Dollfus
Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Career Start Year 1992
Number of shared co-authors 37
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 6
Rando Allikmets
Columbia University Medical Center
Career Start Year 1985
Number of shared co-authors 30
Alessandra Renieri
University of Siena
Career Start Year 1984
Number of shared co-authors 25
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 37
James R Lupski
Baylor College of Medicine
Career Start Year 1981
Number of shared co-authors 66
Asl??han Tolun
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 5

Collaborators

Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 43
Panagiotis I Sergouniotis
University of Manchester
Co-authored papers 36
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 30
Jamie M Ellingford
University of Manchester
Co-authored papers 29
Georgina Hall
The University of Melbourne, The Royal Children's Hospital
Co-authored papers 23
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 15
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 10
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 10
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 10
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 9
Martin McKibbin
Leeds Teaching Hospitals NHS Trust
Co-authored papers 7
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 7
Carel B Hoyng
Radboud University Medical Center
Co-authored papers 7
Siddharth Banka
University of Manchester
Co-authored papers 6
Andrew J Lotery
University of Southampton
Co-authored papers 5
David A Mackey
Lions Eye Institute, University of Western Australia
Co-authored papers 5
Bernard Keavney
Co-authored papers 5
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 5
Sally Ann Lynch
University College Dublin
Co-authored papers 5
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 4
William B Dobyns
University of Minnesota
Co-authored papers 4
Fiona Stewart
Belfast City Hospital
Co-authored papers 4
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 4
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 3
Alan F Wright
Co-authored papers 3
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 3
Andrea H N??meth
University of Oxford
Co-authored papers 3
Jamie E Craig
Flinders Medical Centre, Flinders University
Co-authored papers 3
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 3
Susanne Roosing
Radboud University Medical Center
Co-authored papers 3
Release 1.2