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1.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Am J Hum Genet
; 111(2): 309-322, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38272032
2.
EWS and FUS bind a subset of transcribed genes encoding proteins enriched in RNA regulatory functions.
BMC Genomics
; 16: 929, 2015 Nov 14.
Article
in English
| MEDLINE | ID: mdl-26573619
3.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Eur J Med Genet
; 69: 104937, 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38574886
4.
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
JAMA Dermatol
; 160(5): 502-510, 2024 May 01.
Article
in English
| MEDLINE | ID: mdl-38477886
5.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med
; 9(1): 18, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38429302
6.
Analysis of HP1α regulation in human breast cancer cells.
Mol Carcinog
; 50(8): 601-13, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21374739
7.
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.
JIMD Rep
; 59(1): 20-25, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33977026
8.
Regulatory mechanisms for 3'-end alternative splicing and polyadenylation of the Glial Fibrillary Acidic Protein, GFAP, transcript.
Nucleic Acids Res
; 35(22): 7636-50, 2007.
Article
in English
| MEDLINE | ID: mdl-17981838
9.
An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor.
Neurobiol Aging
; 71: 266.e11-266.e24, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30078640
10.
Identification of the BRD1 interaction network and its impact on mental disorder risk.
Genome Med
; 8(1): 53, 2016 05 03.
Article
in English
| MEDLINE | ID: mdl-27142060
11.
Characterization and expression analysis in the developing embryonic brain of the porcine FET family: FUS, EWS, and TAF15.
Gene
; 493(1): 27-35, 2012 Feb 01.
Article
in English
| MEDLINE | ID: mdl-22143032
12.
Gene expression responses to FUS, EWS, and TAF15 reduction and stress granule sequestration analyses identifies FET-protein non-redundant functions.
PLoS One
; 7(9): e46251, 2012.
Article
in English
| MEDLINE | ID: mdl-23049996
13.
Aromatic l-amino acid decarboxylase expression profiling and isoform detection in the developing porcine brain.
Brain Res
; 1308: 1-13, 2010 Jan 13.
Article
in English
| MEDLINE | ID: mdl-19857468
14.
Analysis of qPCR data by converting exponentially related Ct values into linearly related X0 values.
J Bioinform Comput Biol
; 8(5): 885-900, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20981893
15.
Identification and characterization of GFAPkappa, a novel glial fibrillary acidic protein isoform.
Glia
; 55(5): 497-507, 2007 Apr 01.
Article
in English
| MEDLINE | ID: mdl-17203480
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