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Christiane Zweier
Christiane Zweier
Unknown affiliation
Verified email at insel.ch
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Year
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ...
The Lancet 380 (9854), 1674-1682, 2012
12342012
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
B Cisse, ML Caton, M Lehner, T Maeda, S Scheu, R Locksley, ...
Cell 135 (1), 37-48, 2008
7592008
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
A Rauch, J Hoyer, S Guth, C Zweier, C Kraus, C Becker, M Zenker, ...
American journal of medical genetics Part A 140 (19), 2063-2074, 2006
6352006
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ...
Science 319 (5864), 816-819, 2008
4632008
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A Van Haeringen, ...
Nature genetics 43 (1), 20-22, 2011
3932011
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
C Zweier, EK de Jong, M Zweier, A Orrico, LB Ousager, AL Collins, ...
The American Journal of Human Genetics 85 (5), 655-666, 2009
3742009
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ...
The American Journal of Human Genetics 80 (5), 994-1001, 2007
3582007
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules
K Kochinke, C Zweier, B Nijhof, M Fenckova, P Cizek, F Honti, ...
The American Journal of Human Genetics 98 (1), 149-164, 2016
3312016
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ...
The American Journal of Human Genetics 90 (3), 565-572, 2012
2942012
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ...
Cell 157 (3), 651-663, 2014
2832014
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Boegershausen, F Beleggia, S Steiner-Haldenstaett, ...
Human molecular genetics 22 (25), 5121-5135, 2013
2432013
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11. 2 deletions
C Zweier, H Sticht, I Aydin-Yaylagül, CE Campbell, A Rauch
The American Journal of Human Genetics 80 (3), 510-517, 2007
2352007
Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection
KD Omilusik, JA Best, B Yu, S Goossens, A Weidemann, JV Nguyen, ...
Journal of Experimental Medicine 212 (12), 2027-2039, 2015
2142015
Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ...
JAMA psychiatry 74 (3), 293-299, 2017
2122017
Mutations in MEF2C from the 5q14. 3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
M Zweier, A Gregor, C Zweier, H Engels, H Sticht, E Wohlleber, ...
Human mutation 31 (6), 722-733, 2010
1802010
Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot
R Rauch, M Hofbeck, C Zweier, A Koch, S Zink, U Trautmann, J Hoyer, ...
Journal of medical genetics 47 (5), 321-331, 2010
1772010
De novo mutations in the genome organizer CTCF cause intellectual disability
A Gregor, M Oti, EN Kouwenhoven, J Hoyer, H Sticht, AB Ekici, ...
The American Journal of Human Genetics 93 (1), 124-131, 2013
1762013
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ...
Genetics in Medicine 20 (10), 1175-1185, 2018
1722018
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ...
Journal of medical genetics 53 (8), 511-522, 2016
1722016
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
CT Thiel, D Horn, B Zabel, AB Ekici, K Salinas, E Gebhart, F Rüschendorf, ...
The American Journal of Human Genetics 77 (5), 795-806, 2005
1562005
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