Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth CC Homan, R Kumar, LS Nguyen, E Haan, FL Raymond, F Abidi, ... The American Journal of Human Genetics 94 (3), 470-478, 2014 | 145 | 2014 |
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal … LA Jolly, CC Homan, R Jacob, S Barry, J Gecz Human molecular genetics 22 (23), 4673-4687, 2013 | 129 | 2013 |
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML AL Brown, P Arts, CL Carmichael, M Babic, J Dobbins, CE Chong, ... Blood advances 4 (6), 1131-1144, 2020 | 115 | 2020 |
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice DT Pederick, CC Homan, EJ Jaehne, SG Piltz, BP Haines, BT Baune, ... Scientific reports 6 (1), 26765, 2016 | 67 | 2016 |
Zinc and zinc transporters in macrophages and their roles in efferocytosis in COPD R Hamon, CC Homan, HB Tran, VR Mukaro, SE Lester, E Roscioli, ... PloS one 9 (10), e110056, 2014 | 65 | 2014 |
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 |
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 |
GATA2 deficiency syndrome: a decade of discovery CC Homan, P Venugopal, P Arts, NH Shahrin, S Feurstein, L Rawlings, ... Human Mutation 42 (11), 1399-1421, 2021 | 32 | 2021 |
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy CC Homan, SL King-Smith, DM Lawrence, P Arts, J Feng, J Andrews, ... Haematologica 106 (11), 3004, 2021 | 31 | 2021 |
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies C Saygin, G Roloff, CN Hahn, R Chhetri, S Gill, H Elmariah, C Talati, ... Blood Advances 7 (4), 549-554, 2023 | 24 | 2023 |
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery R Kumar, A Gardner, CC Homan, E Douglas, H Mefford, D Wieczorek, ... Human mutation 39 (8), 1126-1138, 2018 | 24 | 2018 |
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females MR Jackson, KE Loring, CC Homan, MHN Thai, L Määttänen, M Arvio, ... Life science alliance 2 (4), 2019 | 22 | 2019 |
Disrupted excitatory synaptic contacts and altered neuronal network activity underpins the neurological phenotype in PCDH19-clustering epilepsy (PCDH19-CE) S Mincheva-Tasheva, AF Nieto Guil, CC Homan, J Gecz, PQ Thomas Molecular Neurobiology 58, 2005-2018, 2021 | 21 | 2021 |
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26 CC Homan, HS Scott, AL Brown Blood 141 (13), 1533-1543, 2023 | 16 | 2023 |
Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations MW Drazer, CC Homan, K Yu, M Cavalcante de Andrade Silva, ... Blood advances 6 (15), 4357-4359, 2022 | 15 | 2022 |
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41 CC Homan, MW Drazer, K Yu, DM Lawrence, J Feng, L Arriola-Martinez, ... Blood Advances 7 (20), 6092-6107, 2023 | 11 | 2023 |
Somatic mutational landscape of hereditary hematopoietic malignancies associated with germline variants in RUNX1, GATA2 and DDX41 AL Brown, C Homan, MW Drazer, K Yu, D Lawrence, J Feng, ... Blood 140 (Supplement 1), 4030-4033, 2022 | 4 | 2022 |
An integrative genomic approach to examine mutations and biological pathways associated with hematological malignancy development in DDX41 mutated families P Venugopal, JJC Cheah, L Eshraghi, NH Shahrin, C Homan, J Feng, ... Blood 134, 2686, 2019 | 2 | 2019 |
Robust imaging and gene delivery to study human lymphoblastoid cell lines LA Jolly, Y Sun, R Carroll, CC Homan, J Gecz Journal of Human Genetics 63 (9), 945-955, 2018 | 2 | 2018 |
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 |