Publications by authors named "Fiona Leduc"

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Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Fiona Leduc, Perrine Brunelle, Fabienne Escande, Nassima Ramdane, Laurence Bellengier

Eur J Hum Genet· November 2025

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Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit

Clin Genet· October 2025

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Fiona Leduc

EBioMedicine· May 2025

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Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.
Clémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, Emilie Ait-Yahya, Mike Bamshad, Fiona Leduc

Genet Med· December 2024

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PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
Fiona Leduc, Thomas Smol, Benoit Catteau, Odile Boute, Florence Petit

Eur J Med Genet· June 2024

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