Christian Thiel
Christian Thiel
Institute of Human Genetics, University of Erlangen-Nuremberg
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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
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
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
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
M Zenker, J Mayerle, MM Lerch, A Tagariello, K Zerres, PR Durie, M Beier, ...
Nature genetics 37 (12), 1345-1350, 2005
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
NEK1 mutations cause short-rib polydactyly syndrome type majewski
C Thiel, K Kessler, A Giessl, A Dimmler, SA Shalev, S von der Haar, ...
The American Journal of Human Genetics 88 (1), 106-114, 2011
Clinical and mutational spectrum of Mowat–Wilson syndrome
C Zweier, CT Thiel, A Dufke, YJ Crow, P Meinecke, M Suri, S Ala-Mello, ...
European journal of medical genetics 48 (2), 97-111, 2005
Molecular karyotyping using an SNP array for genomewide genotyping
A Rauch, F Rüschendorf, J Huang, U Trautmann, C Becker, C Thiel, ...
Journal of Medical Genetics 41 (12), 916-922, 2004
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
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
Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11. 2
A Rauch, S Zink, C Zweier, CT Thiel, A Koch, R Rauch, J Lascorz, ...
Journal of Medical Genetics 42 (11), 871-876, 2005
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
C Bergmann, J Senderek, D Anhuf, CT Thiel, AB Ekici, ...
The American Journal of Human Genetics 79 (6), 1105-1109, 2006
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice
M Kraft, IC Cirstea, AK Voss, T Thomas, I Goehring, BN Sheikh, L Gordon, ...
The Journal of clinical investigation 121 (9), 2011
Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, ...
The American Journal of Human Genetics 97 (1), 163-169, 2015
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia–anauxetic dysplasia spectrum
CT Thiel, G Mortier, I Kaitila, A Reis, A Rauch
The American Journal of Human Genetics 81 (3), 519-529, 2007
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ...
Genetics in Medicine 20 (6), 630-638, 2018
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
J Hoyer, A Dreweke, C Becker, I Göhring, CT Thiel, MM Peippo, R Rauch, ...
Journal of medical genetics 44 (10), 629-636, 2007
The clinical significance of small copy number variants in neurodevelopmental disorders
R Asadollahi, B Oneda, P Joset, S Azzarello-Burri, D Bartholdi, K Steindl, ...
Journal of Medical Genetics 51 (10), 677-688, 2014
Rare copy number variants are a common cause of short stature
D Zahnleiter, S Uebe, AB Ekici, J Hoyer, A Wiesener, D Wieczorek, ...
PLoS genetics 9 (3), e1003365, 2013
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11. 2-12 duplications and deletions leading to HMSN/HNPP
CT Thiel, C Kraus, A Rauch, AB Ekici, B Rautenstrauss, A Reis
European journal of human genetics 11 (2), 170-178, 2003
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