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Cas Simons
Cas Simons
Verified email at mcri.edu.au
Title
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Cited by
Year
Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation
ME Dinger, PP Amaral, TR Mercer, KC Pang, SJ Bruce, BB Gardiner, ...
Genome research 18 (9), 1433-1445, 2008
8452008
The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line
ROS Center, FANTOM Consortium
Nature genetics 41 (5), 553, 2009
4582009
Tiny RNAs associated with transcription start sites in animals
RJ Taft, EA Glazov, N Cloonan, C Simons, S Stephen, GJ Faulkner, ...
Nature genetics 41 (5), 572-578, 2009
4112009
Expression of distinct RNAs from 3′ untranslated regions
TR Mercer, D Wilhelm, ME Dinger, G Solda, DJ Korbie, EA Glazov, ...
Nucleic acids research 39 (6), 2393-2403, 2011
2152011
Effect of 5'UTR introns on gene expression in Arabidopsis thaliana
BYW Chung, C Simons, AE Firth, CM Brown, RP Hellens
BMC genomics 7 (1), 1-13, 2006
2102006
Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans
RJ Taft, C Simons, S Nahkuri, H Oey, DJ Korbie, TR Mercer, J Holst, ...
Nature structural & molecular biology 17 (8), 1030-1034, 2010
1832010
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
C Simons, NI Wolf, N McNeil, L Caldovic, JM Devaney, A Takanohashi, ...
The American Journal of Human Genetics 92 (5), 767-773, 2013
1722013
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ...
Molecular genetics and metabolism 114 (4), 501-515, 2015
1662015
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ...
The American Journal of Human Genetics 92 (5), 774-780, 2013
1652013
Transposon-free regions in mammalian genomes
C Simons, M Pheasant, IV Makunin, JS Mattick
Genome research 16 (2), 164-172, 2006
1322006
Evolution, biogenesis and function of promoter-associated RNAs
RJ Taft, CD Kaplan, C Simons, JS Mattick
Cell cycle 8 (15), 2332-2338, 2009
1282009
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
I Thiffault, NI Wolf, D Forget, K Guerrero, LT Tran, K Choquet, ...
Nature communications 6 (1), 1-9, 2015
1182015
Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms
TA Forbes, SE Howden, K Lawlor, B Phipson, J Maksimovic, L Hale, ...
The American Journal of Human Genetics 102 (5), 816-831, 2018
1122018
Whole exome sequencing in patients with white matter abnormalities
A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ...
Annals of neurology 79 (6), 1031-1037, 2016
1112016
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
C Simons, LD Rash, J Crawford, L Ma, B Cristofori-Armstrong, D Miller, ...
Nature genetics 47 (1), 73-77, 2015
1112015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
C Simons, LB Griffin, G Helman, G Golas, A Pizzino, M Bloom, ...
The American Journal of Human Genetics 96 (4), 675-681, 2015
1092015
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
EM Hamilton, E Polder, A Vanderver, S Naidu, R Schiffmann, K Fisher, ...
Brain 137 (7), 1921-1930, 2014
852014
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
I Prokudin, C Simons, JR Grigg, R Storen, V Kumar, ZY Phua, J Smith, ...
European Journal of Human Genetics 22 (7), 907-915, 2014
742014
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
D Hunt, RJ Leventer, C Simons, R Taft, KJ Swoboda, M Gawne-Cain, ...
Journal of medical genetics 51 (12), 806-813, 2014
722014
Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation
L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ...
The American Journal of Human Genetics 104 (5), 925-935, 2019
702019
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