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Claire C Homan
Claire C Homan
The University of South Australia
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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
1452014
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
1292013
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
1152020
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
672016
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
652014
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
512018
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
382017
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
322021
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
312021
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
242023
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
242018
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
222019
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
212021
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
162023
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
152022
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
112023
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
42022
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
22019
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
22018
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
22016
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