Neil V Morgan
Title
Cited by
Cited by
Year
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
KB Lane, RD Machado, MW Pauciulo, JR Thomson, JA Phillips, JE Loyd, ...
Nature genetics 26 (1), 81-84, 2000
14192000
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
14192000
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
7822000
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
7762001
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
5802001
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
5212002
PLA2G6, encoding a phospholipase A 2, 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
4682006
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
4342001
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
2992004
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
2842006
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
2732000
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
JP de Winter, F Léveillé, CGM van Berkel, MA Rooimans, L van der Weel, ...
The American Journal of Human Genetics 67 (5), 1306-1308, 2000
2662000
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
2592001
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
2221999
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
2102005
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
1942008
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
1822009
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
1642010
Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A
H Joenje, M Levitus, Q Waisfisz, A D'Andrea, I Garcia-Higuera, T Pearson, ...
The American Journal of Human Genetics 67 (3), 759-762, 2000
1492000
High frequency of large intragenic deletions in the Fanconi anemia group A gene
NV Morgan, AJ Tipping, H Joenje, CG Mathew
The American Journal of Human Genetics 65 (5), 1330-1341, 1999
1481999
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