Publications by authors named "Elise Boudry"

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Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne-Sophie Diependaële, Nathalie Bach, Elise Boudry

Epilepsia· August 2025

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Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.
Jade Fauqueux, Jean-Pascal Meneboo, Roseline Caumes, Luc Thomès, Emilie Ait Yahya, Elise Boudry

Comput Struct Biotechnol J· April 2025

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Dearomatization of Pyridines: Photochemical Skeletal Enlargement for the Synthesis of 1,2-Diazepines.
Elise Boudry, Flavien Bourdreux, Jérôme Marrot, Xavier Moreau, Clément Ghiazza

J Am Chem Soc· January 2024

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Elise Boudry

Am J Med Genet A· December 2022

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Elise Boudry

Clin Genet· August 2022

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