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Black G, Black GC, Black GCM
Black G, Black GC, Black GCM
Verified email at manchester.ac.uk - Homepage
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Cited by
Cited by
Year
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ...
Cell 107 (4), 513-523, 2001
26642001
Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies
Y Liu, S Chen, L Zühlke, GC Black, M Choy, N Li, BD Keavney
International journal of epidemiology 48 (2), 455-463, 2019
9402019
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
9092014
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
RE MacLaren, M Groppe, AR Barnard, CL Cottriall, T Tolmachova, ...
The Lancet 383 (9923), 1129-1137, 2014
8712014
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
A Petzold, LJ Balcer, PA Calabresi, F Costello, TC Frohman, EM Frohman, ...
The Lancet Neurology 16 (10), 797-812, 2017
4732017
Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
S Biswas, FL Munier, J Yardley, N Hart-Holden, R Perveen, P Cousin, ...
Human molecular genetics 10 (21), 2415-2423, 2001
4472001
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
J Kolehmainen, GCM Black, A Saarinen, K Chandler, J Clayton-Smith, ...
The American Journal of Human Genetics 72 (6), 1359-1369, 2003
4442003
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, ...
The American Journal of Human Genetics 74 (4), 721-730, 2004
4162004
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
3862020
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
D Ng, N Thakker, CM Corcoran, D Donnai, R Perveen, A Schneider, ...
Nature genetics 36 (4), 411-416, 2004
3282004
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ...
Nature genetics 39 (8), 957-959, 2007
3252007
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
R Burgess, ID Millar, BP Leroy, JE Urquhart, IM Fearon, E De Baere, ...
The American Journal of Human Genetics 82 (1), 19-31, 2008
3172008
Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
RECOVERY Collaborative Group
Lancet (London, England) 397 (10274), 605, 2021
3132021
Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma
RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ...
Human molecular genetics 11 (1), 33-42, 2002
3102002
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ...
The American Journal of Human Genetics 76 (4), 609-622, 2005
3022005
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...
Nature genetics 44 (3), 338-342, 2012
2842012
Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein
P Watson, G Black, S Ramsden, M Barrow, M Super, B Kerr, ...
Journal of medical genetics 38 (4), 224-228, 2001
2732001
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
TA Briggs, GI Rice, S Daly, J Urquhart, H Gornall, B Bader-Meunier, ...
Nature genetics 43 (2), 127-131, 2011
2582011
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ...
Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004
2582004
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
B Kerr, MA Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, ...
Journal of medical genetics 43 (5), 401-405, 2006
2552006
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