Christopher T. Gordon at Institut Imagine and Université Paris Cité - Research Interests, Publications & Academic Profile

Christopher T. Gordon

University Name

France

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Research Interests

Orthodontics

40%

Developmental Neuroscience

60%

Medical Science

100%

Birth Defect

70%

Neurodevelopmental Disorders

70%

Osteogenesis Imperfecta

50%

Rare Disease

40%

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Articles19

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

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Year:

2024

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

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Year:

2023

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

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Year:

2023

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

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Year:

2023

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans

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Year:

2023

Biallelic truncating variants in VGLL2 cause syngnathia in humans

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Year:

2023

Cleft palate lateral synechia syndrome in two patients and literature review

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Year:

2022

Cleft palate lateral synechia syndrome in two patients and literature review

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Year:

2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

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Year:

2022

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

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Year:

2022

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

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Year:

2022

Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree

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Year:

2021

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

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Year:

2021

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

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Year:

2021

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

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Year:

2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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Year:

2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

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Year:

2020

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Article Link

Year:

2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Article Link

Year:

2020

Collaborators16

Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

Kathryn Hentges

Reader

The University of Manchester

UNITED KINGDOM

Taro Kitazawa

Aarhus University

DENMARK

Akiyasu Iwase

Assistant Professor

University of Tokyo

JAPAN

Eleni Giannoulatou

Laboratory Head, Faculty

Victor Chang Cardiac Research Institute

AUSTRALIA

Bernardo BLANCO SANCHEZ

Institut du Cerveau et de la Moelle Épinière

FRANCE

Robert Daniel Blank

Professor Emeritus of Medicine

Medical College of Wisconsin

UNITED STATES

Farah Zahir

The University of British Columbia

CANADA

Véronique Pingault

FRANCE

Ryan Peretz

Chief of the Division of Medical Genetics

Harbor–UCLA Medical Center

UNITED STATES

Katherine Wood

University of Oxford

UNITED KINGDOM

Kaja Kristine Selmer

NORWAY

Susanna Balcells

SPAIN

Priyanka Ahimaz

UNITED STATES

Hila Milo Rasouly

Assistant Professor

Columbia University

UNITED STATES

Huw Thomas

The University of Manchester

UNITED KINGDOM

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