Publications by authors named "V Malan"

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French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, Jean-Michel Dupont, Chantal Missirian, Valérie Malan

Clin Genet· January 2026

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deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron, Valerie Malan

J Med Genet· December 2025

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Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.
Clarisse Billon, Gilles Millat, Adeline Goudal, Valerie Malan, Diala Khraiche

J Mol Med (Berl)· November 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Valérie Malan

Genome Med· October 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Valérie Malan

Nat Genet· June 2025

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