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Neil V Morgan
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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
16362000
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
8922001
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
8592000
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
6492001
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
6162002
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
5662006
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
4672001
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
3572004
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
3192006
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
3172000
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
JP De Winter, F LÚveillÚ, CGM Van Berkel, MA Rooimans, ...
The American Journal of Human Genetics 67 (5), 1306-1308, 2000
2902000
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
2872016
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
2682001
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
2502013
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
2501999
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
2472005
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
2392009
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
2362008
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
2092011
Whole-exome-sequencing-based discovery of human FADD deficiency
A Bolze, M Byun, D McDonald, NV Morgan, A Abhyankar, L Premkumar, ...
The American Journal of Human Genetics 87 (6), 873-881, 2010
2082010
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