Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6. 2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant … AL Gloyn, MN Weedon, KR Owen, MJ Turner, BA Knight, G Hitman, ... Diabetes 52 (2), 568-572, 2003 | 1035 | 2003 |
PracticalIn SituHybridization. Trude Schwarzacher and Pat Heslop‐Harrison. BIOS Scientific Publishers, Oxford. 2000. Pp. 203. Price £21.95, paperback. ISBN 1 … S Halford Heredity 85 (1), 97-97, 2000 | 755* | 2000 |
Ocular coloboma: a reassessment in the age of molecular neuroscience CY Gregory-Evans, MJ Williams, S Halford, K Gregory-Evans Journal of medical genetics 41 (12), 881-891, 2004 | 289 | 2004 |
The evolution of irradiance detection: melanopsin and the non-visual opsins SN Peirson, S Halford, RG Foster Philosophical Transactions of the Royal Society B: Biological Sciences 364 …, 2009 | 282 | 2009 |
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome AH Carey, D Kelly, S Halford, R Wadey, D Wilson, J Goodship, J Burn, ... American journal of human genetics 51 (5), 964, 1992 | 214 | 1992 |
VA opsin-based photoreceptors in the hypothalamus of birds S Halford, SS Pires, M Turton, L Zheng, I González-Menéndez, WL Davies, ... Current biology 19 (16), 1396-1402, 2009 | 187 | 2009 |
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality C Roberts, HF Sutherland, H Farmer, W Kimber, S Halford, A Carey, ... Molecular and cellular biology 22 (7), 2318-2328, 2002 | 166 | 2002 |
Large-Scale Analysis of the Relationship between CYP11A Promoter Variation, Polycystic Ovarian Syndrome, and Serum Testosterone M Gaasenbeek, BL Powell, U Sovio, L Haddad, N Gharani, A Bennett, ... The Journal of Clinical Endocrinology & Metabolism 89 (5), 2408-2413, 2004 | 164 | 2004 |
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease S Halford, R Wadey, C Roberts, SCM Daw, JA Whiting, H O'Donnell, ... Human molecular genetics 2 (12), 2099-2107, 1993 | 163 | 1993 |
Identification of a New Human Catenin Gene Family Member (ARVCF) from the Region Deleted in Velo–Cardio–Facial Syndrome H Sirotkin, H O'Donnell, R DasGupta, S Halford, BS Jore, A Puech, ... Genomics 41 (1), 75-83, 1997 | 138 | 1997 |
Functional diversity of melanopsins and their global expression in the teleost retina WIL Davies, L Zheng, S Hughes, TK Tamai, M Turton, S Halford, ... Cellular and Molecular Life Sciences 68 (24), 4115-4132, 2011 | 133 | 2011 |
Unravelling the genetics of inherited retinal dystrophies: Past, present and future S Broadgate, J Yu, SM Downes, S Halford Progress in retinal and eye research 59, 53-96, 2017 | 126 | 2017 |
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina SS Pires, S Hughes, M Turton, Z Melyan, SN Peirson, L Zheng, ... Journal of Neuroscience 29 (39), 12332-12342, 2009 | 121 | 2009 |
Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene F Tata, P Stanier, C Wicking, S Halford, H Kruyer, NJ Lench, PJ Scambler, ... Genomics 10 (2), 301-307, 1991 | 121 | 1991 |
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) S Johnson, S Halford, AG Morris, RJ Patel, SE Wilkie, AJ Hardcastle, ... Genomics 81 (3), 304-314, 2003 | 117 | 2003 |
Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43 S Halford, MS Freedman, J Bellingham, SL Inglis, S Poopalasundaram, ... Genomics 72 (2), 203-208, 2001 | 115 | 2001 |
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. HF Sutherland, R Wadey, JM McKie, C Taylor, U Atif, KA Johnstone, ... American journal of human genetics 59 (1), 23, 1996 | 115 | 1996 |
Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits BL Powell, L Haddad, A Bennett, N Gharani, U Sovio, CJ Groves, K Rush, ... The Journal of Clinical Endocrinology & Metabolism 90 (5), 2988-2993, 2005 | 112 | 2005 |
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11 S Halford, E Lindsay, M Nayudu, AH Carey, A Baldini, PJ Scambler Human molecular genetics 2 (2), 191-196, 1993 | 106 | 1993 |
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ... Ophthalmology 121 (6), 1174-1184, 2014 | 104 | 2014 |