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Black G, Black GC, Black GCM
Black G, Black GC, Black GCM
在 manchester.ac.uk 的电子邮件经过验证 - 首页
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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
26792001
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
10152019
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
9162014
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
8832014
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
4992017
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
4532001
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
4522003
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
4212004
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
4092020
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
3382004
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
3302007
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
3222021
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
3212008
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
3152002
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
3042005
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
2882012
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
2612011
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
2612004
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
2592006
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