Laurence Heidet

Paris, France

Last Updated: 09/26/2026

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Found 85 publications

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

Corrigendum to "Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children" [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1205-1212].

Corrigendum to "Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children" [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1205-1212].

Journal: Kidney international reports

Published: July 18, 2025

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: July 03, 2025

Transient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.

Transient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.

Journal: European journal of pediatrics

Published: May 25, 2025

Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.

Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.

Journal: Kidney medicine

Published: April 28, 2025

Genetic screening in kidney transplant candidates.

Genetic screening in kidney transplant candidates.

Journal: Clinical kidney journal

Published: March 26, 2025

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 20, 2025

Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.

Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.

Journal: Kidney international reports

Published: December 17, 2024

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Journal: Journal of the American Society of Nephrology : JASN

Published: December 09, 2024

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Journal: Kidney international

Published: October 25, 2024

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: September 30, 2024

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Journal: Orphanet journal of rare diseases

Published: August 12, 2024

Showing 1-12 of 85

Last Updated: 09/26/2026