2010 - C.W. Cotterman Award, American Society of Human Genetics
Christiane Zweier mainly investigates Genetics, Phenotype, Developmental disorder, Missense mutation and Gene. All of her Genetics and Intellectual disability, Mutation, Haploinsufficiency, Microdeletion syndrome and Genetic heterogeneity investigations are sub-components of the entire Genetics study. As a part of the same scientific study, she usually deals with the Intellectual disability, concentrating on SYNGAP1 and frequently concerns with Exome sequencing, Exome, Disease and Locus heterogeneity.
The various areas that Christiane Zweier examines in her Phenotype study include Real-time polymerase chain reaction, Typing, In situ hybridization and Low copy repeats. In her study, which falls under the umbrella issue of Developmental disorder, CNTNAP2, Neurotransmitter, Drosophila melanogaster and Drosophila Protein is strongly linked to Pitt–Hopkins syndrome. Her Missense mutation study integrates concerns from other disciplines, such as DNA Mutational Analysis and Chromatin, Histone, Chromatin remodeling, SMARCB1.
The scientist’s investigation covers issues in Genetics, Phenotype, Missense mutation, Intellectual disability and Gene. Genetics is closely attributed to Short stature in her work. Her studies deal with areas such as Gene knockdown, Mowat–Wilson syndrome, Epilepsy, Drosophila melanogaster and Genotype as well as Phenotype.
Her Missense mutation research also works with subjects such as
Christiane Zweier mostly deals with Genetics, Phenotype, Missense mutation, Neurodevelopmental disorder and Intellectual disability. Her study involves Mendelian inheritance, Proband, Exome, QRICH1 and Genotype, a branch of Genetics. Phenotype is a subfield of Gene that Christiane Zweier tackles.
Her research integrates issues of Nonsense, Global developmental delay, Frameshift mutation, Haploinsufficiency and Short stature in her study of Missense mutation. Her Neurodevelopmental disorder research is multidisciplinary, relying on both Exome sequencing, Hypotonia, Pitt–Hopkins syndrome and Microcephaly. Her Intellectual disability research includes elements of Disease, Pediatric gastroenterology, Pediatrics and Autism spectrum disorder.
Christiane Zweier mainly focuses on Genetics, Phenotype, Intellectual disability, Exome and Short stature. Her Genetics research focuses on Missense mutation, Exome sequencing, Microcephaly, Interferon and Singleton Merten syndrome. Her research in Microcephaly tackles topics such as Frameshift mutation which are related to areas like Haploinsufficiency.
Her Phenotype research incorporates elements of Mutation, In silico and Genotype. Her Intellectual disability study combines topics from a wide range of disciplines, such as Proband, Intensive care medicine, Neurodevelopmental disorder, Autism spectrum disorder and Genetic heterogeneity. Her work deals with themes such as Blepharophimosis, Computational biology and Drosophila, which intersect with Exome.
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch;Dagmar Wieczorek;Elisabeth Graf;Thomas Wieland.
The Lancet (2012)
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
Babacar Cisse;Michele L. Caton;Manfred Lehner;Takahiro Maeda.
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch;Juliane Hoyer;Sabine Guth;Christiane Zweier.
American Journal of Medical Genetics Part A (2006)
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick.
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Johannes G. Dauwerse;Jill Dixon;Saskia Seland;Claudia A L Ruivenkamp.
Nature Genetics (2011)
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;Christiane Zweier;Eiko K. de Jong;Markus Zweier;Alfredo Orrico.
American Journal of Human Genetics (2009)
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Christiane Zweier;Maarit M Peippo;Juliane Hoyer;Sergio Sousa.
American Journal of Human Genetics (2007)
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
Juliane Hoyer;Arif B. Ekici;Sabine Endele;Bernt Popp.
American Journal of Human Genetics (2012)
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
Korinna Kochinke;Christiane Zweier;Bonnie Nijhof;Michaela Fenckova.
American Journal of Human Genetics (2016)
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Ashleigh E. Schaffer;Veerle R.C. Eggens;Ahmet Okay Caglayan;Miriam S. Reuter.
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