| Germline mutations in BAP1 predispose to melanocytic tumors T Wiesner, AC Obenauf, R Murali, I Fried, KG Griewank, P Ulz, ... Nature genetics 43 (10), 1018-1021, 2011 | 772 | 2011 |
| Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy OV Evgrafov, I Mersiyanova, J Irobi, L Van Den Bosch, I Dierick, CL Leung, ... Nature genetics 36 (6), 602-606, 2004 | 747 | 2004 |
| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ... Nature genetics 36 (3), 271-276, 2004 | 456 | 2004 |
| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ... Nature genetics 45 (1), 83-87, 2013 | 276 | 2013 |
| Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome E Petek, C Windpassinger, JB Vincent, J Cheung, AP Boright, SW Scherer, ... The American Journal of Human Genetics 68 (4), 848-858, 2001 | 230 | 2001 |
| Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability MA Khan, MA Rafiq, A Noor, S Hussain, JV Flores, V Rupp, AK Vincent, ... The American Journal of Human Genetics 90 (5), 856-863, 2012 | 229 | 2012 |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures AC Lionel, AK Vaags, D Sato, MJ Gazzellone, EB Mitchell, HY Chen, ... Human molecular genetics 22 (10), 2055-2066, 2013 | 183 | 2013 |
| Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families R Harripaul, N Vasli, A Mikhailov, MA Rafiq, K Mittal, C Windpassinger, ... Molecular psychiatry 23 (4), 973-984, 2018 | 177 | 2018 |
| Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line C Li, S Rezania, S Kammerer, A Sokolowski, T Devaney, A Gorischek, ... Scientific reports 5 (1), 8364, 2015 | 176 | 2015 |
| An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 C Windpassinger, B Schoser, V Straub, S Hochmeister, A Noor, ... The American Journal of Human Genetics 82 (1), 88-99, 2008 | 173 | 2008 |
| Membrane topology of the human seipin protein C Lundin, R Nordström, K Wagner, C Windpassinger, H Andersson, ... FEBS letters 580 (9), 2281-2284, 2006 | 152 | 2006 |
| Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation M Auer‐Grumbach, B Schlotter‐Weigel, H Lochmüller, ... Annals of neurology 57 (3), 415-424, 2005 | 142 | 2005 |
| CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa A Noor, C Windpassinger, M Patel, B Stachowiak, A Mikhailov, M Azam, ... The American Journal of Human Genetics 82 (4), 1011-1018, 2008 | 119 | 2008 |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families G Egger, KM Roetzer, A Noor, AC Lionel, H Mahmood, T Schwarzbraun, ... neurogenetics 15, 117-127, 2014 | 116 | 2014 |
| Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia A Zebisch, PB Staber, A Delavar, C Bodner, K Hiden, K Fischereder, ... Cancer research 66 (7), 3401-3408, 2006 | 116 | 2006 |
| The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V J Irobi, P Van den Bergh, L Merlini, C Verellen, L Van Maldergem, ... Brain 127 (9), 2124-2130, 2004 | 112 | 2004 |
| Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-β binding protein 3 A Noor, C Windpassinger, I Vitcu, M Orlic, MA Rafiq, M Khalid, MN Malik, ... The American Journal of Human Genetics 84 (4), 519-523, 2009 | 111 | 2009 |
| Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin M Auer-Grumbach, M Weger, R Fink-Puches, L Papić, E Fröhlich, ... Brain 134 (6), 1839-1852, 2011 | 84 | 2011 |
| The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression C Windpassinger, PM Kroisel, K Wagner, E Petek Gene 292 (1-2), 25-31, 2002 | 83 | 2002 |
| Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency MG Seidel, T Hirschmugl, L Gamez-Diaz, W Schwinger, N Serwas, ... Journal of Allergy and Clinical Immunology 135 (5), 1384-1390. e8, 2015 | 78 | 2015 |
