| GATA3 haplo-insufficiency causes human HDR syndrome H Van Esch, P Groenen, MA Nesbit, S Schuffenhauer, P Lichtner, ... Nature 406 (6794), 419-422, 2000 | 623 | 2000 |
| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 401 | 2015 |
| Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia MA Nesbit, FM Hannan, SA Howles, VN Babinsky, RA Head, T Cranston, ... New England Journal of Medicine 368 (26), 2476-2486, 2013 | 366 | 2013 |
| Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 MA Nesbit, FM Hannan, SA Howles, AAC Reed, T Cranston, CE Thakker, ... Nature genetics 45 (1), 93-97, 2013 | 274 | 2013 |
| Biochemical characterization of human osteoclast integrins. Osteoclasts express alpha v beta 3, alpha 2 beta 1, and alpha v beta 1 integrins S Nesbitt, A Nesbit, M Helfrich, M Horton Journal of Biological Chemistry 268 (22), 16737-16745, 1993 | 239 | 1993 |
| Biochemical characterization of human osteoclast integrins. Osteoclasts express alpha v beta 3, alpha 2 beta 1, and alpha v beta 1 integrins S Nesbitt, A Nesbit, M Helfrich, M Horton Journal of Biological Chemistry 268 (22), 16737-16745, 1993 | 239 | 1993 |
| Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome MA Nesbit, MR Bowl, B Harding, A Ali, A Ayala, C Crowe, A Dobbie, ... Journal of Biological Chemistry 279 (21), 22624-22634, 2004 | 184 | 2004 |
| Identification of 70 calcium-sensing receptor mutations in hyper-and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites FM Hannan, MA Nesbit, C Zhang, T Cranston, AJ Curley, B Harding, ... Human molecular genetics 21 (12), 2768-2778, 2012 | 181 | 2012 |
| Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas PJ Newey, MA Nesbit, AJ Rimmer, M Attar, RT Head, PT Christie, ... The Journal of Clinical Endocrinology & Metabolism 97 (10), E1995-E2005, 2012 | 152 | 2012 |
| Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 … A Ali, PT Christie, IV Grigorieva, B Harding, H Van Esch, SF Ahmed, ... Human molecular genetics 16 (3), 265-275, 2007 | 148 | 2007 |
| Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification TA Hough, D Bogani, MT Cheeseman, J Favor, MA Nesbit, RV Thakker, ... Proceedings of the National Academy of Sciences 101 (37), 13566-13571, 2004 | 142 | 2004 |
| CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting DG Courtney, JE Moore, SD Atkinson, E Maurizi, EHA Allen, DML Pedrioli, ... Gene therapy 23 (1), 108-112, 2016 | 130 | 2016 |
| An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism MR Bowl, MA Nesbit, B Harding, E Levy, A Jefferson, E Volpi, K Rizzoti, ... The Journal of clinical investigation 115 (10), 2822-2831, 2005 | 129 | 2005 |
| Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2 IV Grigorieva, S Mirczuk, KU Gaynor, MA Nesbit, EF Grigorieva, Q Wei, ... The Journal of clinical investigation 120 (6), 2144-2155, 2010 | 121 | 2010 |
| MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO) AM Kennedy, M Inada, SM Krane, PT Christie, B Harding, C López-Otín, ... The Journal of clinical investigation 115 (10), 2832-2842, 2005 | 114 | 2005 |
| Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant … FM Hannan, SA Howles, A Rogers, T Cranston, CM Gorvin, VN Babinsky, ... Human molecular genetics 24 (18), 5079-5092, 2015 | 87 | 2015 |
| Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene FM Hannan, MA Nesbit, PT Christie, C Fratter, NE Dudley, GP Sadler, ... Nature clinical practice Endocrinology & metabolism 4 (1), 53-58, 2008 | 83 | 2008 |
| Whole-exome sequencing studies of nonfunctioning pituitary adenomas PJ Newey, MA Nesbit, AJ Rimmer, RA Head, CM Gorvin, M Attar, ... The Journal of Clinical Endocrinology & Metabolism 98 (4), E796-E800, 2013 | 79 | 2013 |
| Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders KA Christie, DG Courtney, LA DeDionisio, CC Shern, S De Majumdar, ... Scientific reports 7 (1), 16174, 2017 | 75 | 2017 |
| Interaction of osteopontin with osteoclast integrins. MA Horton, MA Nesbit, MH Helfrich Annals of the New York Academy of Sciences 760, 190-200, 1995 | 75 | 1995 |
