Cas Simons
Cas Simons
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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
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
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
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
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
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
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
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
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
Transposon-free regions in mammalian genomes
C Simons, M Pheasant, IV Makunin, JS Mattick
Genome research 16 (2), 164-172, 2006
Evolution, biogenesis and function of promoter-associated RNAs
RJ Taft, CD Kaplan, C Simons, JS Mattick
Cell cycle 8 (15), 2332-2338, 2009
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
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
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
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
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
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
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
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
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
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