Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

doi:10.1002/humu.24324

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Article

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Human mutation - 1 Mar 2022

Jordan Penelope, Dorval Guillaume, Arrondel Christelle, Morinière Vincent, Tournant Carole, Audrezet Marie-Pierre, Michel-Calemard Laurence, Putoux Audrey, Lesca Gaethan, Labalme Audrey, Whalen Sandra, Loeuillet Laurence, Martinovic Jelena, Attie-Bitach Tania, Bessières Bettina, Schaefer Elise, Scheidecker Sophie, Lambert Laetitia, Beneteau Claire, Patat Olivier, Boute-Benejean Odile, Molin Arnaud, Guimiot Fabien, Fontanarosa Nicolas, Nizon Mathilde, Lefebvre Mathilde, Jeanpierre Cécile, Saunier Sophie, Heidet Laurence

Abstract excerpt

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the type of phenotype. The highest diagnostic yield was found in cases affected with the ciliopathy-like phenotype...

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PMID: 35005812
DOI: 10.1002/humu.24324

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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