| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 305 | 2016 |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... The American Journal of Human Genetics 87 (3), 371-375, 2010 | 139 | 2010 |
| Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency C Tan, C Shard, E Ranieri, K Hynes, DH Pham, D Leach, G Buchanan, ... Human molecular genetics 24 (18), 5250-5259, 2015 | 89 | 2015 |
| THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ... The American Journal of Human Genetics 97 (2), 302-310, 2015 | 74 | 2015 |
| PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy CC Homan, S Pederson, TH To, C Tan, S Piltz, MA Corbett, E Wolvetang, ... Neurobiology of Disease 116, 106-119, 2018 | 51 | 2018 |
| Lentivirus-mediated gene transfer to the rat, ovine and human cornea DGA Parker, C Kaufmann, HM Brereton, DS Anson, L Francis-Staite, ... Gene therapy 14 (9), 760-767, 2007 | 46 | 2007 |
| Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα) DH Pham, CC Tan, CC Homan, KL Kolc, MA Corbett, D McAninch, ... Human molecular genetics 26 (11), 2042-2052, 2017 | 38 | 2017 |
| Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems R Kumar, MA Corbett, BWM Van Bon, A Gardner, JA Woenig, LA Jolly, ... Human molecular genetics 24 (25), 7171-7181, 2015 | 35 | 2015 |
| Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder R Kumar, MA Corbett, NJC Smith, LA Jolly, C Tan, DJ Keating, ... Human molecular genetics 24 (7), 2000-2010, 2015 | 28 | 2015 |
| Protocadherin mutations in neurodevelopmental disorders D Pham, C Tan, C Homan, L Jolly, J Gecz Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and …, 2016 | 2 | 2016 |
| Massively parallel sequencing in> 250 families with X-linked intellectual disability VM Kalscheuer, H Hu, SA Haas, J Chelly, H Van Esch, M Rayknaud, ... Proceedings, 2011 | 1 | 2011 |
| Update on X-linked intellectual disability H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, A De Brouwer, ... Abstract book, 107-108, 2015 | | 2015 |
| A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 M Bahlo, L Jolly, Z Afawi, A Gardner, K Oliver, S Tan, A Coffey, J Mulley, ... Univ Chicago Press, 2010 | | 2010 |
| LENTIVIRAL GENE TRANSFER TO THE RAT CORNEA: 917 SL Brice, LA Mortimer, C Tan, DS Anson, HM Brereton, KA Williams Transplantation 86 (2S), 319, 2008 | | 2008 |
| Downstream process of lentivirus: An improved method CK Tan, R Koldej, DS Anson JOURNAL OF GENE MEDICINE 9 (6), 539-540, 2007 | | 2007 |
| Effects of LPC pre-dosing on lentiviral gene expression in mouse lung C Liu, E Wong, CK Tan, D Anson, D Parsons JOURNAL OF GENE MEDICINE 9 (6), 538-538, 2007 | | 2007 |
| Lentivirus-mediated gene transfer to the rat, ovine and human cornea C Kaufmann, HM Brereton, D Anson, L Francis-Staite, CF Jessup, ... | | 2007 |
| In-vivo mouse and sheep lung gene transfer with a VSV-G pseudotyped lentivirus vector after LPC-pretreatment C Liu, E Wong, C Tan, D Anson, G Smith, DW Parsons PEDIATRIC PULMONOLOGY, 293-294, 2007 | | 2007 |
Jozef GeczThe University of AdelaideVerified email at adelaide.edu.au
