Laurence Heidet

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 7

Top Venues

Clinical genetics

Pediatric nephrology (Berlin, Germany)

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Nicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, Natalie Loundon, Sophie Achard, Laurence Heidet, Isabelle Mosnier, Stanislas Lyonnet, Frederic Brioude, Margaux Serey-Gaut, Sandrine Marlin
HDR syndrome: Large cohort and systematic review. Clinical genetics (2024)
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing. Clinical genetics (2023)
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing. Clinical genetics (2023)
Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Marie-Pierre Audrezet, Laurence Michel-Calemard, Audrey Putoux, Gaethan Lesca, Audrey Labalme, Sandra Whalen, Laurence Loeuillet, Jelena Martinovic, Tania Attie-Bitach, Bettina Bessières, Elise Schaefer, Sophie Scheidecker, Laetitia Lambert, Claire Beneteau, Olivier Patat, Odile Boute-Benejean, Arnaud Molin, Fabien Guimiot, Nicolas Fontanarosa, Mathilde Nizon, Mathilde Lefebvre, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. Human mutation 43 (3) (2022)
Sara Gómez-Conde, Olivier Dunand, Aurélie Hummel, Vincent Morinière, Marion Gauthier, Laurent Mesnard, Laurence Heidet
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology. Clinical genetics (2022)
Guillaume Dorval, Cécile Jeanpierre, Vincent Morinière, Carole Tournant, Bettina Bessières, Tania Attié-Bittach, Jeanne Amiel, Emmanuel Spaggari, Yves Ville, Elodie Merieau, Marie-Claire Gubler, Sophie Saunier, Laurence Heidet
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. Pediatric nephrology (Berlin, Germany) 36 (8) (2021)
Marc Fila, Vincent Morinière, Philippe Eckart, Joelle Terzic, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease. Pediatric nephrology (Berlin, Germany) 35 (6) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Laurence Heidet