| Nuclear actin network assembly by formins regulates the SRF coactivator MAL C Baarlink, H Wang, R Grosse Science 340 (6134), 864-867, 2013 | 390 | 2013 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 72 | 2018 |
| The genomic and clinical landscape of fetal akinesia M Pergande, S Motameny, Ö Özdemir, M Kreutzer, H Wang, ... Genetics in Medicine 22 (3), 511-523, 2020 | 46 | 2020 |
| Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy H Wang, C Castiglioni, AK Bayram, F Fattori, S Pekuz, D Araneda, H Per, ... Neuromuscular Disorders 27 (9), 836-842, 2017 | 35 | 2017 |
| Differing and isoform-specific roles for the formin DIAPH3 in plasma membrane blebbing and filopodia formation J Stastna, X Pan, H Wang, A Kollmannsperger, S Kutscheidt, V Lohmann, ... Cell Research 22 (4), 728-745, 2012 | 34 | 2012 |
| Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature R Sprute, D Ardicli, KK Oguz, A Malenica-Mandel, HS Daimagüler, A Koy, ... Human Genome Variation 6 (1), 24, 2019 | 29 | 2019 |
| Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization H Wang, CG Salter, O Refai, H Hardy, KES Barwick, U Akpulat, ... Brain 140 (11), 2838-2850, 2017 | 29 | 2017 |
| A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy H Wang, A Schänzer, B Kampschulte, HS Daimagüler, T Logeswaran, ... Acta Neuropathologica Communications 6, 1-5, 2018 | 22 | 2018 |
| Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia L Willkomm, R Heredia, K Hoffmann, H Wang, T Voit, EP Hoffman, S Cirak Journal of human genetics 61 (6), 571-573, 2016 | 17 | 2016 |
| Shorter phosphorodiamidate morpholino splice-switching oligonucleotides may increase exon-skipping efficacy in DMD U Akpulat, H Wang, K Becker, A Contreras, TA Partridge, JS Novak, ... Molecular Therapy-Nucleic Acids 13, 534-542, 2018 | 13 | 2018 |
| Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA P Karaoglu, N Quizon, M Pergande, H Wang, AI Polat, A Ersen, E Özer, ... Brain and Development 39 (4), 361-364, 2017 | 13 | 2017 |
| Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking H Wang, A Kaçar Bayram, R Sprute, O Ozdemir, E Cooper, M Pergande, ... Frontiers in Neuroscience 13, 974, 2019 | 9 | 2019 |
| Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia D Okur, HS Daimagüler, AE Danyeli, H Tekgül, H Wang, G Wunderlich, ... The Turkish Journal of Pediatrics 61 (6), 931-936, 2019 | 4 | 2019 |
| LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction H Wang, A Krause, H Escobar, S Müthel, E Metzler, S Spuler International Journal of Molecular Sciences 23 (24), 15525, 2022 | 1 | 2022 |
| Disintegration of the NuRD complex in primary human muscle stem cells in critical illness myopathy J Schneider, D Sundaravinayagam, A Blume, A Marg, S Grunwald, ... International Journal of Molecular Sciences 24 (3), 2772, 2023 | | 2023 |
| Correction: The genomic and clinical landscape of fetal akinesia M Pergande, S Motameny, Ö Özdemir, M Kreutzer, H Wang, ... Genetics in Medicine 22 (8), 1426-1428, 2020 | | 2020 |
| A scientific approach to improve Morpholino-based Exon-Skipping therapy for Duchenne Muscular Dystrophy S Cirak, H Wang, J Novak, TA Partridge, U Akpulat Nervenheilkunde 38 (05), V26, 2019 | | 2019 |
| Die genomische Ätiologie fetaler Akinesie M Pergande, S Montameny, A Kawalia, H Daimagüler, K Becker, ... Nervenheilkunde 38 (05), P33, 2019 | | 2019 |
| Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo H Wang, S Salter, O Refai, H Hardy, T Sejersen, J Wright, H Zimmerman, ... Neuromuscular Disorders 27, S220-S221, 2017 | | 2017 |
| Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2 A Bayram, K Stumpfe, H Wang, M Pergande, H Per, S Çırak Neuromuscular Disorders 27, S147, 2017 | | 2017 |
Sebahattin CirakProfessor, Uniklinikum Ulm, Klinik für Kinder- und Jugendmedizin, Sozialpädiatrisches ZentrumVerified email at uniklinik-ulm.de
