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 | 722 | 2017 |
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 | 359 | 2012 |
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 | 188 | 2019 |
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 | 174 | 2013 |
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 | 158 | 2012 |
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 | 146 | 2012 |
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 | 132 | 2018 |
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 | 123 | 2021 |
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 | 106 | 2013 |
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 | 93 | 2021 |
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 | 91 | 2014 |
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 | 91 | 2010 |
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 | 89 | 2016 |
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 | 85 | 2006 |
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 | 71 | 2016 |
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 | 69 | 2020 |
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 | 69 | 2014 |
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 | 66 | 2017 |
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 64 | 2021 |
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 | 64 | 2010 |