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Ana Topf
Ana Topf
Geverifieerd e-mailadres voor ncl.ac.uk
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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
6662017
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
3412012
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
1642013
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
1532012
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
1512019
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
1362012
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
1102018
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
1082021
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
1002013
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
832014
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
802016
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
762021
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
732020
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
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
632014
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
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
582017
Clinical presentation and proteomic signature of patients with TANGO2 mutations
N Mingirulli, A Pyle, D Hathazi, CL Alston, N Kohlschmidt, G O'Grady, ...
Journal of Inherited Metabolic Disease 43 (2), 297-308, 2020
552020
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Artikelen 1–20