Follow
katrina tatton-brown
katrina tatton-brown
Unknown affiliation
Verified email at icr.ac.uk
Title
Cited by
Cited by
Year
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
8162015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7442015
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
469*2018
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown, J Douglas, K Coleman, G Baujat, TRP Cole, S Das, ...
The American Journal of Human Genetics 77 (2), 193-204, 2005
3582005
Davidson's Principles and Practice of Medicine: Davidson's Principles and Practice of Medicine E-Book
SH Ralston, ID Penman, MWJ Strachan, R Hobson
Elsevier Health Sciences, 2018
3432018
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
K Tatton-Brown, S Seal, E Ruark, J Harmer, E Ramsay, ...
Nature genetics 46 (4), 385-388, 2014
3402014
Sotos syndrome
K Tatton-Brown, N Rahman
European Journal of Human Genetics 15 (3), 264-271, 2007
2752007
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
2702015
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
Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability
K Tatton-Brown, C Loveday, S Yost, M Clarke, E Ramsay, A Zachariou, ...
The American Journal of Human Genetics 100 (5), 725-736, 2017
2002017
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ...
Journal of medical genetics 51 (10), 659-668, 2014
1802014
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
K Tatton-Brown, S Hanks, E Ruark, A Zachariou, SDV Duarte, E Ramsay, ...
Oncotarget 2 (12), 1127, 2011
1762011
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
1602016
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
K Tatton‐Brown, A Murray, S Hanks, J Douglas, R Armstrong, S Banka, ...
American journal of medical genetics Part A 161 (12), 2972-2980, 2013
1492013
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1282017
Clinical features of NSD1-positive Sotos syndrome
K Tatton-Brown, N Rahman
Clinical dysmorphology 13 (4), 199-204, 2004
1272004
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
J Douglas, D Cilliers, K Coleman, K Tatton-Brown, K Barker, B Bernhard, ...
Nature genetics 39 (8), 963-965, 2007
1262007
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
C Loveday, K Tatton-Brown, M Clarke, I Westwood, A Renwick, E Ramsay, ...
Human molecular genetics 24 (17), 4775-4779, 2015
982015
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
972018
The system can't perform the operation now. Try again later.
Articles 1–20