עקוב אחר
Ana Topf
Ana Topf
כתובת אימייל מאומתת בדומיין ncl.ac.uk
כותרת
צוטט על ידי
צוטט על ידי
שנה
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6572017
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ...
The American Journal of Human Genetics 91 (3), 489-501, 2012
3352012
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
HJ Cordell, J Bentham, A Topf, D Zelenika, S Heath, C Mamasoula, ...
Nature genetics 45 (7), 822-824, 2013
1582013
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation
HL Tan, E Glen, A Töpf, D Hall, JJ O'Sullivan, L Sneddon, C Wren, ...
Human mutation 33 (4), 720-727, 2012
1502012
Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot
DJ Page, MJ Miossec, SG Williams, RM Monaghan, E Fotiou, HJ Cordell, ...
Circulation research 124 (4), 553-563, 2019
1432019
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
R Soemedi, A Topf, IJ Wilson, R Darlay, T Rahman, E Glen, D Hall, ...
Human molecular genetics 21 (7), 1513-1520, 2012
1322012
Congenital titinopathy: comprehensive characterization and pathogenic insights
EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ...
Annals of neurology 83 (6), 1105-1124, 2018
1092018
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ...
Nature medicine 27 (7), 1197-1204, 2021
1042021
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
HJ Cordell, A Töpf, C Mamasoula, AV Postma, J Bentham, D Zelenika, ...
Human molecular genetics 22 (7), 1473-1481, 2013
982013
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence …
HR Griffin, A Töpf, E Glen, C Zweier, AG Stuart, J Parsons, I Peart, ...
Heart 96 (20), 1651-1655, 2010
842010
Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission
A Chaouch, V Porcelli, D Cox, S Edvardson, P Scarcia, A De Grassi, ...
Journal of neuromuscular diseases 1 (1), 75-90, 2014
822014
Holocene elephant seal distribution implies warmer-than-present climate in the Ross Sea
BL Hall, AR Hoelzel, C Baroni, GH Denton, BJ Le Boeuf, B Overturf, ...
Proceedings of the National Academy of Sciences 103 (27), 10213-10217, 2006
812006
Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea
S Bauché, S O’regan, Y Azuma, F Laffargue, G McMacken, D Sternberg, ...
The American Journal of Human Genetics 99 (3), 753-761, 2016
782016
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ...
Genetics in medicine 22 (9), 1478-1488, 2020
702020
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
682021
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
E O’Connor, A Töpf, JS Müller, D Cox, T Evangelista, J Colomer, A Abicht, ...
Brain 139 (8), 2143-2153, 2016
682016
22q11. 2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia
K Van Engelen, A Topf, BD Keavney, JA Goodship, ET Van Der Velde, ...
Heart 96 (8), 621-624, 2010
622010
Functionally significant, rare transcription factor variants in tetralogy of Fallot
A Töpf, HR Griffin, E Glen, R Soemedi, DL Brown, D Hall, TJ Rahman, ...
PLoS One 9 (8), e95453, 2014
612014
Molecular characterization of congenital myasthenic syndromes in Spain
D Natera-de Benito, A Töpf, JJ Vilchez, L González-Quereda, ...
Neuromuscular Disorders 27 (12), 1087-1098, 2017
562017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
E Harris, A Topf, R Barresi, J Hudson, H Powell, J Tellez, D Hicks, ...
Orphanet Journal of Rare Diseases 12, 1-12, 2017
532017
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מאמרים 1–20