| Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations MJ Smith, C Beetz, SG Williams, SS Bhaskar, J O'Sullivan, B Anderson, ... Journal of Clinical Oncology 32 (36), 4155-4161, 2014 | 311 | 2014 |
| REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 C Beetz, R Schüle, T Deconinck, KN Tran-Viet, H Zhu, BPH Kremer, ... Brain 131 (4), 1078-1086, 2008 | 208 | 2008 |
| High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia C Beetz, AOH Nygren, J Schickel, M Auer-Grumbach, K Burk, G Heide, ... Neurology 67 (11), 1926-1930, 2006 | 165 | 2006 |
| Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia R Allison, JR Edgar, G Pearson, T Rizo, T Newton, S Günther, F Berner, ... Journal of Cell Biology 216 (5), 1337-1355, 2017 | 159 | 2017 |
| Expression of voltage-gated potassium channels Kv1. 3 and Kv1. 5 in human gliomas K Preußat, C Beetz, M Schrey, R Kraft, S Wölfl, R Kalff, S Patt Neuroscience letters 346 (1-2), 33-36, 2003 | 159 | 2003 |
| CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 C Goizet, A Boukhris, A Durr, C Beetz, J Truchetto, C Tesson, ... Brain 132 (6), 1589-1600, 2009 | 134 | 2009 |
| In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 RE Varga, M Khundadze, M Damme, S Nietzsche, B Hoffmann, T Stauber, ... PLoS genetics 11 (8), e1005454, 2015 | 131 | 2015 |
| Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas MJ Smith, AJ Wallace, C Bennett, M Hasselblatt, E Elert‐Dobkowska, ... The Journal of pathology 234 (4), 436-440, 2014 | 131 | 2014 |
| Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure C Beetz, A Johnson, AL Schuh, S Thakur, RE Varga, T Fothergill, N Hertel, ... Proceedings of the National Academy of Sciences 110 (13), 5091-5096, 2013 | 114 | 2013 |
| SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V E Sánchez‐Ferrero, E Coto, C Beetz, J Gamez, AI Corao, M Diaz, ... Clinical genetics 83 (3), 257-262, 2013 | 112 | 2013 |
| Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis MJ Smith, B Isidor, C Beetz, SG Williams, SS Bhaskar, W Richer, ... Neurology 84 (2), 141-147, 2015 | 107 | 2015 |
| A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system M Khundadze, K Kollmann, N Koch, C Biskup, S Nietzsche, G Zimmer, ... PLoS genetics 9 (12), e1003988, 2013 | 102 | 2013 |
| Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 U Kornak, I Mademan, M Schinke, M Voigt, P Krawitz, J Hecht, ... Brain 137 (3), 683-692, 2014 | 101 | 2014 |
| Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V C Beetz, TR Pieber, N Hertel, M Schabhüttl, C Fischer, S Trajanoski, ... The American Journal of Human Genetics 91 (1), 139-145, 2012 | 97 | 2012 |
| Expression of ether à go-go potassium channels in human gliomas S Patt, K Preußat, C Beetz, R Kraft, M Schrey, R Kalff, K Schönherr, ... Neuroscience letters 368 (3), 249-253, 2004 | 95 | 2004 |
| A spastic paraplegia mouse model reveals REEP1-dependent ER shaping C Beetz, N Koch, M Khundadze, G Zimmer, S Nietzsche, N Hertel, ... The Journal of clinical investigation 123 (10), 4273-4282, 2013 | 93 | 2013 |
| LRIG2 mutations cause urofacial syndrome HM Stuart, NA Roberts, B Burgu, SB Daly, JE Urquhart, S Bhaskar, ... The American Journal of Human Genetics 92 (2), 259-264, 2013 | 87 | 2013 |
| Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort AM Bertoli-Avella, C Beetz, N Ameziane, ME Rocha, P Guatibonza, ... European Journal of Human Genetics 29 (1), 141-153, 2021 | 85 | 2021 |
| Association of genetic predisposition with solitary schwannoma or meningioma in children and young adults ON Pathmanaban, KV Sadler, ID Kamaly-Asl, AT King, SA Rutherford, ... JAMA neurology 74 (9), 1123-1129, 2017 | 84 | 2017 |
| Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, ... The American Journal of Human Genetics 93 (4), 727-734, 2013 | 80 | 2013 |
