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Jonathan Berg
Jonathan Berg
Unknown affiliation
Verified email at Dundee.ac.uk
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Cited by
Year
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
DW Johnson, JN Berg, MA Baldwin, CJ Gallione, I Marondel, SJ Yoon, ...
Nature genetics 13 (2), 189-195, 1996
13141996
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
8992001
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8782017
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7422015
Germline mutations in RAD51D confer susceptibility to ovarian cancer
C Loveday, C Turnbull, E Ramsay, D Hughes, E Ruark, JR Frankum, ...
Nature genetics 43 (9), 879-882, 2011
6032011
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
JN Berg, CJ Gallione, TT Stenzel, DW Johnson, WP Allen, CE Schwartz, ...
The American Journal of Human Genetics 61 (1), 60-67, 1997
2871997
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ...
Nature 493 (7432), 406-410, 2013
2722013
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
J Berg, M Porteous, D Reinhardt, C Gallione, S Holloway, T Umasunthar, ...
Journal of medical genetics 40 (8), 585-590, 2003
2272003
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.
DW Johnson, JN Berg, CJ Gallione, KA McAllister, JP Warner, ...
Genome Research 5 (1), 21-28, 1995
2161995
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2052018
Germline FH Mutations Presenting With Pheochromocytoma
GR Clark, M Sciacovelli, E Gaude, DM Walsh, G Kirby, MA Simpson, ...
The Journal of Clinical Endocrinology & Metabolism 99 (10), E2046-E2050, 2014
1802014
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects
V Wouters, N Limaye, M Uebelhoer, A Irrthum, LM Boon, JB Mulliken, ...
European Journal of Human Genetics 18 (4), 414-420, 2010
1742010
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
JN Berg, AE Guttmacher, DA Marchuk, ME Porteous
Journal of medical genetics 33 (3), 256-257, 1996
1661996
Allelic and locus heterogeneity in inherited venous malformations
JT Calvert, TJ Riney, CD Kontos, EH Cha, VG Prieto, CR Shea, JN Berg, ...
Human molecular genetics 8 (7), 1279-1289, 1999
1571999
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1442017
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
KA McAllister, MA Baldwin, AK Thukkani, CJ Gallione, JN Berg, ...
Human Molecular Genetics 4 (10), 1983-1985, 1995
1341995
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
A Ibrahim, G Kirby, C Hardy, RP Dias, L Tee, D Lim, J Berg, F MacDonald, ...
Clinical epigenetics 6, 1-10, 2014
1192014
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
L Spinelli, FM Black, JN Berg, BJ Eickholt, NR Leslie
Journal of Medical Genetics 52 (2), 128-134, 2015
1162015
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
CJ Gallione, DJ Klaus, EY Yeh, TT Stenzel, Y Xue, KB Anthony, ...
Human mutation 11 (4), 286-294, 1998
1141998
Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial
M Mullen, XY Jin, A Child, AG Stuart, M Dodd, JA Aragon-Martin, D Gaze, ...
The Lancet 394 (10216), 2263-2270, 2019
1122019
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