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All papers authored by Audrey Putoux

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2021 Deepak Khatri, Audrey Putoux

ORCID

, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Sarah Grotto, Lyse Ruaud, Caroline Michot, Martin Castelle, Agnès Guët and 8 other authors

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects

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Idriss Bousquet, Muriel Bozon, Valérie Castellani, Renaud Touraine, Amélie Piton, Bénédicte Gérard, Laurent Guibaud, Damien Sanlaville, Patrick Edery, Pascale Saugier-Veber, Audrey Putoux

ORCID

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

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2020 Jean-Christophe Zech, Audrey Putoux

ORCID

, Evelyne Decullier

ORCID

, Anne-Emmanuelle Fargeton, Patrick Edery

ORCID

, Henri Plauchu, Sophie Dupuis-Girod

ORCID

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

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2019 Sara Cabet, Audrey Putoux

ORCID

, Maryline Carneiro, Audrey Labalme, Damien Sanlaville, Laurent Guibaud, Gaetan Lesca

ORCID

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset

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Amerh Salem Alqahtani

ORCID

, Audrey Putoux

ORCID

, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi

ORCID

, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca

ORCID

, Marianne Till, Patrick Edery, Damien Sanlaville

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

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Audric Cologne

ORCID

, Clara Benoit-Pilven

ORCID

, Alicia Besson, Audrey Putoux

ORCID

, Amandine Campan-Fournier, Michael B. Bober

ORCID

, Christine E. M. De Die-Smulders

ORCID

, Aimee D. C. Paulussen

ORCID

, Lucile Pinson, Annick Toutain

ORCID

, Chaim M. Roifman

ORCID

, Anne-Louise Leutenegger

ORCID

, Sylvie Mazoyer

ORCID

, Patrick Edery

ORCID

, Vincent Lacroix

ORCID

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

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Kieron J. Sweeney

ORCID

, Carmine Mottolese, Alexandre Belot, Alexandru Szathmari, Didier Frappaz, Gaetan Lesca

ORCID

, Audrey Putoux

ORCID

, Federico Di Rocco

The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome

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Caroline Schluth-Bolard

ORCID

, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Yline Capri, Alexandra Afenjar, Patrick Collignon, Marie-Pierre Cordier, Florence Amblard, Christine Coubes, Benedicte Demeer

ORCID

, Jeanne Amiel, Annabelle Chaussenot, Florence Demurger and 58 other authors

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

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Erin Torti

ORCID

, Boris Keren, Elizabeth E. Palmer

ORCID

, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret Au, Susan A. Berry, Kevin M. Bowling, Jackie Boyle, Julien Buratti, Sara S. Cathey, Perrine Charles and 38 other authors

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

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Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie Gautier, Dominique Salvi, Sarah Kidri, Julien Thevenon

ORCID

, Aurélie Godard, Daphné Lehalle

ORCID

, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Gaetan Lesca

ORCID

, Alice Masurel, Marianne Till and 17 other authors

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

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2018 Daphné Lehalle

ORCID

, Umut Altunoglu, Ange‐Line L. Bruel, Mirna Assoum, Yannis Duffourd, Alice Masurel, Geneviève Baujat, N. H. El?io?lu, Bettina Bessieres, D. Genevi?ve, Guillaume Captier

ORCID

, Nursel H. Elçioğlu, Pascale Saugier‐Veber, Audrey Putoux

ORCID

, Patrick Edery and 18 other authors

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

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Audrey Putoux

ORCID

, Dominique Baas, Marie Paschaki, Laurette Morlé, Charline Maire, Tania Attié-Bitach, Sophie Thomas, Bénédicte Durand

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes inKif7depleted mice

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Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin

ORCID

, Giulia Barcia, Christine Barnerias, Claude Besmond and 71 other authors

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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L. Guibaud, A. Putoux

ORCID

, S. Cabet, A. Buenerd, L. Gueneau, A. Reymond, D. Sanlaville, G. Iesca

EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss-of-function variants

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Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson

ORCID

, Julien Buratti, Marie-Line Jacquemont, McMahon Ac, Caroline Nava, Claude Besmond, Marilyn Tallot, Thierry Bienvenu, Mathieu Milh, Ange-Line Bruel, Ledia Brunga and 74 other authors

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Egle Preiksaitiene, Frédéric Tran Mau-Them

ORCID

, Glen R. Monroe, Angeline Lai, Audrey Putoux

ORCID

, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex

ORCID

and 24 other authors

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

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2017 Audrey Putoux

ORCID

, Nicolas Chatron, Anne-Sophie Eyraud-Rousselle, Audrey Labalme, Nathalie Streichenberger, David Meyronet, Julitta De-Regnauld-De-Bellescize, Damien Sanlaville, Patrick Edery, Gaëtan Lesca

Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient

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M. Faoucher, A. Putoux

ORCID

, C. Francannet, A. L. Poulat, N. Chatron, C. Aquaviva, A. Labalme, C. Schluth-Bolard, M. Till, C. Saban, V. Desportes, D. Sanlaville, P. Edery, G. Lesca

Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism

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