World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
58
Citations
13235
World Ranking
3312
National Ranking
227

Research.com Recognitions

  • 2010 - C.W. Cotterman Award, American Society of Human Genetics

Overview

Christiane Zweier is affiliated with the University of Erlangen-Nuremberg in Germany and has a research focus predominantly in the fields of Biochemistry, Genetics, and Molecular Biology.

The scientist's extensive work includes 178 publications in these domains, with a principal emphasis on Genetics and Neurodevelopmental Disorders, which accounts for 82 publications. Further research areas include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, RNA modifications and cancer, Cancer-related gene regulation, and Genomics and Chromatin Dynamics.

Zweier's recent papers reflect a focus on neurodevelopmental and genetic syndromes, with examples including:

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders, 2021, Genome Medicine
  • Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, 2020, Human Mutation
  • New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics, 2020, Genetics in Medicine
  • NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain, 2021, Molecular Cell
  • DLG4-related synaptopathy: a new rare brain disorder, 2021, Genetics in Medicine

Several frequent co-authors have collaborated with Zweier in multiple publications. Notable frequent co-authors include André Reis, Cornelia Kraus, Anne Gregor, Frédéric Tran Mau-Them, and Bernt Popp.

The scientist's work has been published repeatedly in specific venues, indicating particular relevance to those journals. The main publication venues include Genetics in Medicine, bioRxiv (Cold Spring Harbor Laboratory), European Journal of Human Genetics, American Journal of Medical Genetics Part A, and Clinical Genetics.

Zweier's research output primarily addresses molecular and genetic mechanisms underlying neurodevelopmental disorders and related rare diseases, often working at the intersection of genomics, clinical genetics, and molecular biology.

Among the recognitions received is the C.W. Cotterman Award from the American Society of Human Genetics, awarded in 2010.

Best Publications

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

    Anita Rauch;Dagmar Wieczorek;Elisabeth Graf;Thomas Wieland

  • 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

  • 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

  • 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

  • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

    Christiane Zweier;Maarit M Peippo;Juliane Hoyer;Sergio Sousa

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

    Korinna Kochinke;Christiane Zweier;Bonnie Nijhof;Michaela Fenckova

  • 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

  • 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

  • Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

    Christiane Zweier;Heinrich Sticht;Inci Aydin-Yaylagül;Christine E. Campbell

  • A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

    Dagmar Wieczorek;Nina Bögershausen;Filippo Beleggia;Sabine Steiner-Haldenstätt

  • Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection.

    Kyla D. Omilusik;J. Adam Best;Bingfei Yu;Steven Goossens;Steven Goossens

  • Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

    Miriam S. Reuter;Hasan Tawamie;Rebecca Buchert;Ola Hosny Gebril

  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

    Cyril Mignot;Celina von Stülpnagel;Caroline Nava;Dorothée Ville

  • Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot

    Ralf Rauch;Michael Hofbeck;Christiane Zweier;Andreas Koch

  • Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  • Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

    Markus Zweier;Anne Gregor;Christiane Zweier;Hartmut Engels

  • SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

    Martin Zenker;Denise Horn;Dagmar Wieczorek;Judith Allanson

  • "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

    Christiane Zweier;Beate Albrecht;Beate Mitulla;Rolf Behrens

Frequent Co-Authors

Anita Rauch
Anita Rauch University of Zurich
André Reis
André Reis University of Erlangen-Nuremberg
Arif B. Ekici
Arif B. Ekici University of Erlangen-Nuremberg
Dagmar Wieczorek
Dagmar Wieczorek Heinrich Heine University Düsseldorf
Heinrich Sticht
Heinrich Sticht University of Erlangen-Nuremberg
Han G. Brunner
Han G. Brunner Radboud University
Martin Zenker
Martin Zenker Otto-von-Guericke University Magdeburg
Caroline Nava
Caroline Nava Université Paris Cité
Evan E. Eichler
Evan E. Eichler University of Washington

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