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Christopher T. Gordon

France

Research Interests

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Articles (22)

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Collaborators (19)

Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

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Kathryn Hentges

Reader

The University of Manchester

UNITED KINGDOM

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Taro Kitazawa

Associate Professor

Aarhus University

DENMARK

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Akiyasu Iwase

Assistant Professor

University of Tokyo

JAPAN

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Eleni Giannoulatou

Laboratory Head, Faculty

Victor Chang Cardiac Research Institute

AUSTRALIA

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Bernardo BLANCO SANCHEZ

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Robert Daniel Blank

Professor Emeritus of Medicine

Medical College of Wisconsin

UNITED STATES

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Farah Zahir

The University of British Columbia

CANADA

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Véronique Pingault

Imagine Institute for Genetic Diseases

FRANCE

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Ryan Peretz

Chief of the Division of Medical Genetics

Harbor–UCLA Medical Center

UNITED STATES

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nadège bondurand

research director DR2, PI

INSERM

FRANCE

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Katherine Wood

University of Oxford

UNITED KINGDOM

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Kaja Kristine Selmer

Head of section

Oslo University Hospital

NORWAY

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Susanna Balcells

SPAIN

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Priyanka Ahimaz

UNITED STATES

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Hila Milo Rasouly

Assistant Professor

Columbia University

UNITED STATES

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Huw Thomas

The University of Manchester

UNITED KINGDOM

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Dong Li

University of Pennsylvania

UNITED STATES

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Rossana Sanchez Russo

Associate Professor of Human Genetics

Emory University

UNITED STATES

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Christopher T. Gordon

Research Interests

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Articles (22)

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

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

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

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

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

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

Biallelic alterations in <i>PLXND1</i> cause common arterial trunk and other cardiac malformations in humans

Biallelic truncating variants in VGLL2 cause syngnathia in humans

Cleft palate lateral synechia syndrome in two patients and literature review

Cleft palate lateral synechia syndrome in two patients and literature review

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

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

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

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

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

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

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

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

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

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

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

Collaborators (19)

Joy Cogan

Kathryn Hentges

Taro Kitazawa

Akiyasu Iwase

Eleni Giannoulatou

Bernardo BLANCO SANCHEZ

Robert Daniel Blank

Farah Zahir

Véronique Pingault

Ryan Peretz

nadège bondurand

Katherine Wood

Kaja Kristine Selmer

Susanna Balcells

Priyanka Ahimaz

Hila Milo Rasouly

Huw Thomas

Dong Li

Rossana Sanchez Russo

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