What is she best known for?
The fields of study she is best known for:
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.
Her most cited work include:
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. (766 citations)
- Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development (460 citations)
- Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. (321 citations)
What are the main themes of her work throughout her whole career to date?
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
- Neurodevelopmental disorder which is related to area like Proband,
- RNA Helicase A most often made with reference to Global developmental delay.
Christiane Zweier combines subjects such as Compound heterozygosity, Exome, Autism spectrum disorder, Neuroscience and Pediatrics with her study of Intellectual disability.
In the field of Gene, her study on Exon and Mendelian inheritance overlaps with subjects such as PCNT.
She most often published in these fields:
- Genetics (66.88%)
- Phenotype (38.22%)
- Missense mutation (32.48%)
What were the highlights of her more recent work (between 2018-2021)?
- Genetics (66.88%)
- Phenotype (38.22%)
- Missense mutation (32.48%)
In recent papers she was focusing on the following fields of study:
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.
Between 2018 and 2021, her most popular works were:
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (48 citations)
- Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. (18 citations)
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. (17 citations)
In her most recent research, the most cited papers focused on:
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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