Jean-marie Ravel

Nancy, France

Last Updated: 09/26/2026

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Found 18 publications

Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.

Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.

Journal: Current issues in molecular biology

Published: June 06, 2026

High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature.

High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature.

Journal: JIMD reports

Published: November 27, 2025

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Journal: Brain communications

Published: January 09, 2025

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Journal: International journal of cancer

Published: September 26, 2024

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Journal: Genome medicine

Published: November 22, 2022

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

Journal: Parkinsonism & related disorders

Published: November 21, 2022

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family.

Journal: Movement disorders clinical practice

Published: August 05, 2022

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Journal: Neurogenetics

Published: April 10, 2022

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.

Journal: American journal of medical genetics. Part A

Published: March 21, 2022

COVID-19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.

COVID-19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.

Journal: Molecular systems biology

Published: December 03, 2021

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.

Journal: Human genetics

Published: May 08, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026