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Christiane Zweier | doi.page

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Christiane Zweier

Center for Human Genetics(US)Institute of Human Genetics(PL)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Chromatin Remodeling and Cancer

Most-Cited Works

→ Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
→ Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development(2008)650 cited
→ Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation(2006)445 cited
→ Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism(2008)393 cited
→ Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
→ Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules(2016)351 cited

→ CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila(2009)

345 cited

→ Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)(2007)315 cited

→ CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration(2014)280 cited

→ Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability(2012)264 cited