Christiane Zweier

University Name

Switzerland

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Research Interests

Developmental Neuroscience

50%

Biostatistics

70%

Medical Science

100%

Genomic

50%

Neurodevelopmental Disorders

40%

Genetic

40%

Neurodevelopment

30%

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Articles30

Further delineation of the SCAF4-associated neurodevelopmental disorder

Article Link

Year:

2025

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Article Link

Year:

2025

Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

Article Link

Year:

2025

De novo variants predicting haploinsufficiency for <scp>DIP2C</scp> are associated with expressive speech delay

Article Link

Year:

2024

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Article Link

Year:

2024

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Article Link

Year:

2024

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Article Link

Year:

2024

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.

Article Link

Year:

2024

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.

Article Link

Year:

2024

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Article Link

Year:

2024

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

Article Link

Year:

2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Article Link

Year:

2024

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Article Link

Year:

2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Article Link

Year:

2024

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.

Article Link

Year:

2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Article Link

Year:

2024

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Article Link

Year:

2024

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Article Link

Year:

2023

Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.

Article Link

Year:

2023

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2).

Article Link

Year:

2023

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

Article Link

Year:

2022

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Article Link

Year:

2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Article Link

Year:

2022

Neurological outcome in WDR62 primary microcephaly

Article Link

Year:

2022

Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp>PHF6</scp>

Article Link

Year:

2022

Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Article Link

Year:

2022

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Article Link

Year:

2021

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Article Link

Year:

2021

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

Article Link

Year:

2021

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

Article Link

Year:

2021

Collaborators37

Frank Kooy

Professor

University of Antwerp

BELGIUM

Karen Nuytemans

Assistant Professor

University of Miami

UNITED STATES

Kimberly Foss

Assistant Professor

University of North Carolina

UNITED STATES

Vincent El Ghouzzi

INSERM

FRANCE

Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

Rikke S. Møller

the faculty of health sciences university of southern denmark odense denmark

DENMARK

Sandrine PASSEMARD

Université Paris Cité

FRANCE

Anna Ruiz

Institute of Research and Innovation Parc Tauli

SPAIN

Thomas M. Durcan

McGill University

CANADA

Anne Slavotinek

UNITED STATES

María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

Tao Xie

Professor

University of Chicago Medicine

UNITED STATES

Alexander Zimprich

Principal Investigator/Associate Prof. Dr.

Medical University of Vienna

AUSTRIA

Sally Ann Lynch

IRELAND

Frédéric Tran Mau‐Them

FRANCE

Tom Fowler

Queen Mary University of London

UNITED KINGDOM

Megan Roy-Puckelwartz

Northwestern University

UNITED STATES

Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

Alastair Noyce

University College London

UNITED KINGDOM

Ivan Ivanovski

University of Zurich

SWITZERLAND

Sara Bandrés Ciga

Senior Staff Scientist | Head Training & Outreach

Centre for Addiction and Mental Health

UNITED STATES

Victoria Siu

University of Western Ontario

CANADA

William Dobyns

Professor

University of Minnesota

UNITED STATES

KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

Sheng-Jia Lin

Assistant Professor

Utah Tech University

UNITED STATES

Edoardo Errichiello

Assistant Professor

University of Pavia

ITALY

roberta battini

University of Pisa

ITALY

Michael Zimmermann

Assistant Professor

Medical College of Wisconsin

UNITED STATES

Amélie Piton

associate professor

University of Strasbourg

FRANCE

Annick Toutain

FRANCE

Cristina Dias

King’s College London

UNITED KINGDOM

Peter Wild Crea

National Institute on Aging

UNITED STATES

Katja E Odening

SWITZERLAND

Kishore R. Kumar

University of Sydney

AUSTRALIA

Anita Rauch

SWITZERLAND

Thomas Smol

FRANCE

Anders Skov Kristensen

Associate professor

University of Copenhagen

DENMARK

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Christiane Zweier

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Research Interests

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Articles30

Further delineation of the SCAF4-associated neurodevelopmental disorder

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in &lt;i&gt;CACNA1A&lt;/i&gt;.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2).

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Neurological outcome in WDR62 primary microcephaly

Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp>

Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in <i>MAP2K1</i> - Case Study.

Collaborators37

Frank Kooy

Karen Nuytemans

Kimberly Foss

Vincent El Ghouzzi

Ludger Schöls

Rikke S. Møller

Sandrine PASSEMARD

Anna Ruiz

Thomas M. Durcan

Anne Slavotinek

María Palomares-Bralo

Tao Xie

Alexander Zimprich

Sally Ann Lynch

Frédéric Tran Mau‐Them

Tom Fowler

Megan Roy-Puckelwartz

Manuela Morleo

Alastair Noyce

Ivan Ivanovski

Sara Bandrés Ciga

Victoria Siu

William Dobyns

KATHERINE LACHLAN

Sheng-Jia Lin

Edoardo Errichiello

roberta battini

Michael Zimmermann

Amélie Piton

Annick Toutain

Cristina Dias

Peter Wild Crea

Katja E Odening

Kishore R. Kumar

Anita Rauch

Thomas Smol

Anders Skov Kristensen

How do I reach out?

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in <i>CACNA1A</i>.