A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity KL Kolc, LG Sadleir, IE Scheffer, A Ivancevic, R Roberts, DH Pham, ... Molecular psychiatry 24 (2), 241-251, 2019 | 123 | 2019 |
Sphingosine and FTY720 directly bind pro-survival 14-3-3 proteins to regulate their function JM Woodcock, Y Ma, C Coolen, D Pham, C Jones, AF Lopez, SM Pitson Cellular signalling 22 (9), 1291-1299, 2010 | 91 | 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 |
A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties MR Pitman, JA Powell, C Coolen, PAB Moretti, JR Zebol, DH Pham, ... Oncotarget 6 (9), 7065, 2015 | 74 | 2015 |
An oncogenic role for sphingosine kinase 2 HA Neubauer, DH Pham, JR Zebol, PAB Moretti, AL Peterson, ... Oncotarget 7 (40), 64886, 2016 | 65 | 2016 |
Attenuation of leakiness in doxycycline-inducible expression via incorporation of 3′ AU-rich mRNA destabilizing elements DH Pham, PAB Moretti, GJ Goodall, SM Pitson Biotechniques 45 (2), 155-162, 2008 | 40 | 2008 |
Isoform-selective assays for sphingosine kinase activity MR Pitman, DH Pham, SM Pitson Sphingosine-1-Phosphate: Methods and Protocols, 21-31, 2012 | 39 | 2012 |
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 |
Enhanced expression of transferrin receptor 1 contributes to oncogenic signalling by sphingosine kinase 1 DH Pham, JA Powell, BL Gliddon, PAB Moretti, A Tsykin, M Van der Hoek, ... Oncogene 33 (48), 5559-5568, 2014 | 38 | 2014 |
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy KL Kolc, LG Sadleir, C Depienne, C Marini, IE Scheffer, RS Møller, ... Translational psychiatry 10 (1), 127, 2020 | 35 | 2020 |
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability R Kumar, T Ha, D Pham, M Shaw, M Mangelsdorf, KL Friend, L Hobson, ... European Journal of Human Genetics 24 (11), 1612-1616, 2016 | 16 | 2016 |
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants DH Pham, MR Pitman, R Kumar, LA Jolly, R Schulz, AE Gardner, ... Human mutation 42 (8), 1030-1041, 2021 | 2 | 2021 |
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 |
Sphingosine Kinases: Biochemistry, Regulation, and Roles MR Pitman, KE Jarman, TM Leclercq, DH Pham, SM Pitson Lysophospholipid Receptors: Signaling and Biochemistry, 153-183, 2013 | 2 | 2013 |
Aicardi Syndrome Is a Genetically Heterogeneous Disorder TT Ha, R Burgess, M Newman, C Moey, SA Mandelstam, AE Gardner, ... Genes 14 (8), 1565, 2023 | | 2023 |
Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics J Gecz, K Kolc, L Sadleir, C Depienne, C Marini, IE Scheffer, RS Moller, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 72-72, 2020 | | 2020 |
ASSOCIATION STUDIES ARTICLES R Shaheen, A Almoisheer, E Faqeih, Z Babay, D Monies, N Tassan, ... Human Molecular Genetics 24 (18), 2015 | | 2015 |
Gene regulation by Sphingosine kinase. DH Pham | | 2012 |
Hanson Institute, Division of Human Immunology, Institute of Medical and Veterinary Science 2 School of Molecular and Biomedical Science 3 Department of Medicine, University of … DH Pham, PAB Moretti, GJ Goodall, SM Pitson BioTechniques 45 (2), 155-162, 2008 | | 2008 |
Regulation of Sphingosine Kinase by Ksam1 D Pham University of South Australia, 2004 | | 2004 |