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Christiane Zweier | Researchclopedia

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Christiane Zweier

Center for Human Genetics ORCID

243

Works

12,190

Citations

59

h-index

122

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

University of Bern2020–2025

University of Copenhagen2021–2021

Bern University of Applied Sciences2024–2025

Hudson Institute2019–2019

University Medical Center Groningen2008–2008

Top Works

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch,Dagmar Wieczorek,et al.

20121,063 citations

Congenital heart defects research

Chromatin Remodeling and Cancer

Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

Babacar Cisse,Michele L. Caton,et al.

2008650 citations

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch,Juliane Hoyer,et al.

2006445 citations

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch,Christian T. Thiel,et al.

2008393 citations

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse,Jill Dixon,et al.

2010366 citations

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

Korinna Kochinke,Christiane Zweier,et al.

2016351 citations

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier,Eiko K. de Jong,et al.

2009345 citations

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier,Maarit Peippo,et al.

2007315 citations

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer,Veerle Rc Eggens,et al.

2014280 citations