Eléonore Viora-Dupont - Dissemin

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All papers authored by Eléonore Viora-Dupont

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2024 Eléonore Viora-Dupont

ORCID

, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaetan Lesca

ORCID

, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian and 35 other authors

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

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2023 E. Viora‐Dupont

ORCID

, A. Denommé‐Pichon

ORCID

, M. Chevarin, O. Patat, M. Willems

ORCID

, N. Bourgon, A. Bruel, M. Aubert‐Mucca, M. Galinier, R. Itier, S. Decramer, A. Piton, B. Gerard, C. Billon, X. Jeunemaitre and 7 other authors

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome

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2022 Emilie Tisserant, Antonio Vitobello

ORCID

, Davide Callegarin, Simon Verdez

ORCID

, Ange‐line Bruel

ORCID

, Ludwig Serge Aho Glele

ORCID

, Arthur Sorlin

ORCID

, Eleonore Viora‐Dupont

ORCID

, Marina Konyukh, Nathalie Marle

ORCID

, Sophie Nambot

ORCID

, Sébastien Moutton

ORCID

, Caroline Racine

ORCID

ORCID

, Julian Delanne

ORCID

and 12 other authors

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

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Eleonore Viora-Dupont

ORCID

, Anne-Sophie Denomme-Pichon, Martin Chevarin, Olivier Patat, Marjolaine Willems, Juliette Albuisson, Ange-Line Bruel, Marion Aubert-Mucca, Michel Galinier, Romain Itier, Amelie Piton, Benedicte Gerard, Patrick Callier, Christel Thauvin, Christophe Philippe and 2 other authors

Familial Grange syndrome: 1st case report of YY1AP1 homozygous deletion

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2021 Kévin Uguen

ORCID

, Séverine Audebert‐Bellanger, Kilannin Krysiak

ORCID

, Sylvia Redon, Eléonore Viora‐Dupont

ORCID

, Caroline Benech, Frederic Tran Mau‐Them

ORCID

, Sophie Rondeau, Julie Neidich, Ibrahim Elsharkawi, Celia Azevedo Soares, Natáliya Tkachenko, Jorge L. Granadillo, Shivarajan M. Amudhavalli, Kendra Engleman and 13 other authors

Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly

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Elke de Boer

ORCID

, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander Jm M. Dingemans, Lukas Lütje, Boer Ed, Dmitrijs Rots

ORCID

, Ockeloen Cw, Tazeen Ashraf, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Rachel Baker, Christèle Dubourg, Kampen Ra and 44 other authors

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

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