Presentation
Chris Gordon, PhD, HDR, tenured researcher (INSERM)
My research is aimed at understanding the genetic causes and developmental mechanisms underlying craniofacial, cardiac and neurodevelopmental disorders. Working closely with clinicians consulting patients with rare disorders at the Necker children's hospital, my group uses whole genome sequencing techniques to identify novel causes of disease. We use in vitro and in vivo models (zebrafish, mice), generated with CRISPR/Cas9 genome editing tools, to explore the pathogenicity and developmental consequences of variants identified in patients.
ORCID ID: https://orcid.org/0000-0002-9300-8399
Resources & publications
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2017Journal (source)Nat. Genet.De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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2017Journal (source)Am. J. Hum. Genet.Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2016Journal (source)Nat. Genet.MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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2015Journal (source)Am. J. Hum. Genet.Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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2014Journal (source)Am. J. Hum. Genet.Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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2013Journal (source)J. Med. Genet.EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2020Journal (source)Am. J. Hum. Genet.Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2018Journal (source)Nat CommunSLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2021Journal (source)Am J Hum GenetHeterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
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2021Journal (source)Nat CommunImpaired eIF5A function causes a Mendelian disorder that is partially rescued...
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2021Journal (source)J Clin InvestDysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2020Journal (source)Genet MedPhenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)BrainMN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2009Journal (source)Nat. Genet.Highly conserved non-coding elements on either side of SOX9 associated with P...