| Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension IPPHC Kirk B Lane, Rajiv D Machado, Michael W Pauciulo, Jennifer R Thomson ... Nature genetics 26 (1), 81, 2000 | 1633 | 2000 |
| Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia RC Trembath, JR Thomson, RD Machado, NV Morgan, C Atkinson, ... New England Journal of Medicine 345 (5), 325-334, 2001 | 899 | 2001 |
| Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family JR Thomson, RD Machado, MW Pauciulo, NV Morgan, M Humbert, ... Journal of medical genetics 37 (10), 741-745, 2000 | 867 | 2000 |
| BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension RD Machado, MW Pauciulo, JR Thomson, KB Lane, NV Morgan, ... The American Journal of Human Genetics 68 (1), 92-102, 2001 | 654 | 2001 |
| HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron SJ Mandriota, KJ Turner, DR Davies, PG Murray, NV Morgan, HM Sowter, ... Cancer cell 1 (5), 459-468, 2002 | 623 | 2002 |
| PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ... Nature genetics 38 (7), 752-754, 2006 | 574 | 2006 |
| Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1α in clear cell renal carcinomas MS Wiesener, PM Münchenhagen, I Berger, NV Morgan, J Roigas, ... Cancer research 61 (13), 5215-5222, 2001 | 468 | 2001 |
| Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ... Nature genetics 36 (4), 400-404, 2004 | 361 | 2004 |
| The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat UM Smith, M Consugar, LJ Tee, BM McKee, EN Maina, S Whelan, ... Nature genetics 38 (2), 191-196, 2006 | 324 | 2006 |
| Association of complementation group and mutation type with clinical outcome in Fanconi anemia L Faivre, P Guardiola, C Lewis, I Dokal, W Ebell, A Zatterale, C Altay, ... Blood, The Journal of the American Society of Hematology 96 (13), 4064-4070, 2000 | 315 | 2000 |
| The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity RB Damgaard, JA Walker, P Marco-Casanova, NV Morgan, ... Cell 166 (5), 1215-1230. e20, 2016 | 293 | 2016 |
| Isolation of a cDNA representing the Fanconi anemia complementation group E gene JP De Winter, F Léveillé, CGM Van Berkel, MA Rooimans, ... The American Journal of Human Genetics 67 (5), 1306-1308, 2000 | 290 | 2000 |
| Epigenetic inactivation of the RASSF1A 3p21. 3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma C Morrissey, A Martinez, M Zatyka, A Agathanggelou, S Honorio, D Astuti, ... Cancer research 61 (19), 7277-7281, 2001 | 270 | 2001 |
| STAT2 deficiency and susceptibility to viral illness in humans S Hambleton, S Goodbourn, DF Young, P Dickinson, SMB Mohamad, ... Proceedings of the National Academy of Sciences 110 (8), 3053-3058, 2013 | 258 | 2013 |
| Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism Q Waisfisz, NV Morgan, M Savino, JP De Winter, CGM Van Berkel, ... Nature genetics 22 (4), 379-383, 1999 | 249 | 1999 |
| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ... Nature genetics 37 (3), 221-224, 2005 | 248 | 2005 |
| Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia MA Kurian, J Zhen, SY Cheng, Y Li, SR Mordekar, P Jardine, NV Morgan, ... The Journal of clinical investigation 119 (6), 1595-1603, 2009 | 242 | 2009 |
| Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) MA Kurian, NV Morgan, L MacPherson, K Foster, D Peake, R Gupta, ... Neurology 70 (18), 1623-1629, 2008 | 237 | 2008 |
| Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth P Nieminen, NV Morgan, AL Fenwick, S Parmanen, L Veistinen, ... The American Journal of Human Genetics 89 (1), 67-81, 2011 | 217 | 2011 |
| Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial … NV Morgan, MR Morris, H Cangul, D Gleeson, A Straatman-Iwanowska, ... PLoS genetics 6 (2), e1000833, 2010 | 207 | 2010 |
Eamonn MaherUniversity of CambridgeCorreu electrònic verificat a medschl.cam.ac.uk
