Celine Richard-Pebrel

Clermont-ferrand, 63003, France

Last Updated: 09/26/2026

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Found 36 publications

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Journal: Clinical genetics

Published: May 28, 2025

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

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.

Journal: Diagnostics (Basel, Switzerland)

Published: October 31, 2023

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

Optical genome mapping for prenatal diagnosis: A prospective study.

Optical genome mapping for prenatal diagnosis: A prospective study.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 08, 2023

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Journal: Clinical genetics

Published: August 24, 2022

Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.

Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: April 25, 2022

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Journal: Pediatric rheumatology online journal

Published: February 15, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026