Christopher T. Gordon

Paris, 75015, France

Last Updated: 09/26/2026

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Found 87 publications

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine

Published: October 08, 2024

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center.

Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center.

Journal: Pediatric blood & cancer

Published: September 13, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 11, 2024

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Journal: Research square

Published: September 18, 2023

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

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

Journal: American journal of human genetics

Published: June 30, 2023

Sarcopenia in long-term survivors of cancer in childhood and adolescence: A cross-sectional study of calf muscle mass by peripheral quantitative computed tomography with an examination of the muscle-bone unit.

Sarcopenia in long-term survivors of cancer in childhood and adolescence: A cross-sectional study of calf muscle mass by peripheral quantitative computed tomography with an examination of the muscle-bone unit.

Journal: Pediatric blood & cancer

Published: May 17, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics

Published: April 20, 2023

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

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

Journal: European journal of human genetics : EJHG

Published: February 08, 2023

Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Journal: Journal of medical genetics

Published: November 16, 2022

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.

Journal: Nature communications

Published: October 02, 2022

Showing 1-12 of 87

Last Updated: 09/26/2026