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All papers authored by Thomas Besnard

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2023 Frédéric Ebstein

ORCID

, Sébastien Küry

ORCID

, Victoria Most

ORCID

, Cory Rosenfelt

ORCID

, Marie-Pier Scott-Boyer, Geeske M. van Woerden

ORCID

, Thomas Besnard

ORCID

, Jonas Johannes Papendorf, Maja Studencka-Turski

ORCID

ORCID

, Tzung-Chien Hsieh

ORCID

, Richard Golnik

ORCID

, Dustin Baldridge

ORCID

, Cara Forster, Charlotte de Konink

ORCID

and 59 other authors

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

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2021 Geeske M. van Woerden, Charlotte de Konink, Richard H. van Jaarsveld, Marie José H. van den Boogaard, Daniel J. Wegner, Sandra Yang, Neda Zadeh, Rachel Westman, Patricia G. Wheeler, Frédéric Ebstein, Marie-Pier Scott Boyer, Sébastien Küry, Jonas Johannes Papendorf, Victoria Most, Cory Rosenfelt and 60 other authors

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

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Leïla Ghesh

ORCID

, Thomas Besnard

ORCID

, Mathilde Nizon, Eva Trochu, Gaëlle Landeau‐Trottier, Flora Breheret, Christel Thauvin‐Robinet, Ange‐Line Bruel

ORCID

ORCID

, Christine Coubes, Laurence Cuisset, Cyril Mignot, Boris Keren, Stéphane Bézieau, Benjamin Cogné

ORCID

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder

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2019 Thomas Besnard

ORCID

, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Xavier Balguerie, Flora Breheret, Sébastien Barbarot, Geneviève Baujat, Eva Trochu, Tawfeg Ben-Omran, Solène Conrad, Anne-Claire Bursztejn, Virginie Carmignac, Alexandre N. Datta and 24 other authors

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

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Martin A. Weber, Justyna A. Karolak, Arie van Haeringen, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Francesco Vetrini, Olivier Pichon, Heather C. Mefford, Katie Golden-Grant, Jennifer N. Dines, Katrina Dipple, Amanda S. Freed, Kathleen A. Leppig and 59 other authors

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

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2018 M.-L. Vuillaume, B. Cogné, M. Jeanne, A. Boland, D.-C. Ung, D. Quinquis, T. Besnard

ORCID

, J.-F. Deleuze, R. Redon, S. Bézieau, F. Laumonnier

ORCID

, A. Toutain

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

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Mathilde Pacault

ORCID

, Marie Vincent, Thomas Besnard

ORCID

, Caroline Kannengiesser, Claire Bénéteau

ORCID

, Sébastien Barbarot

ORCID

, Xénia Latypova, Khaldia Belabbas, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stéphane Bézieau

ORCID

, Bertrand Isidor, Sandra Mercier, Mathilde Nizon and 3 other authors

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

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Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J. L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont and 36 other authors

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

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Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N. Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca

ORCID

, Thomas Besnard

ORCID

, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti

ORCID

, Marie McDonald and 44 other authors

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

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Atg T. G. Chiu, Slc L. C. Pei, Ccy C. Y. Mak, Gkc K. C. Leung, Mhc H. C. Yu, Sl L. Lee, M. Vreeburg, R. Pfundt, T. M.‐T-T. Frederic, I. van der Burgt, S. Nambot

ORCID

, T. Kleefstra, L. Faivre, A.‐L-L. Bruel

ORCID

, M. Rossi and 7 other authors

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

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2017 Davor Lessel

ORCID

, the Ddd study, Claudia Schob, Margot R. F. Reijnders, Sébastien Küry, Mohammad K. Eldomery, Tamar Harel, Alexander P. A. Stegmann

ORCID

, Zeynep Coban-Akdemir, Jonas Denecke, Marine Tessarech, Erica H. Gerkes, Reijnders Mrf, Shimon Edvardson, Dominique Bonneau and 33 other authors

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

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Sébastien Küry, Geeske M. van Woerden, Martina Proietti Onori, Martina Proietti Onori, Thomas Besnard

ORCID

, Xénia Latypova, Meghan C. Towne, Megan T. Cho, S. Kury, Trine E. Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A. F. Stessman, Aurora Pujol, Ben Distel and 91 other authors

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

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Mara Cavallin, Maria A. Rujano, Nathalie Bednarek, Daniel Medina-Cano, Antoinette Bernabe Gelot, Severine Drunat, Camille Maillard, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Claire Beneteau

ORCID

, Thomas Besnard

ORCID

, Benjamin Cogné, Marion Eveillard, Alice Kuster and 19 other authors

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

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M. Nizon

ORCID

, S. Küry, Y. Péréon, T. Besnard

ORCID

, D. Quinquis, P. Boisseau, T. Marsaud, A. Magot, J.‐M-M. Mussini, E. Mayrargue, S. Barbarot

ORCID

, S. Bézieau, B. Isidor

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia

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Jing Zhang

ORCID

, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Rosenfeld Ja, Lihadh Al-Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Balwi Ma, Elizabeth Roeder, Laura McAuley and 28 other authors

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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Teresa Santiago-Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari J. Tokita, Marcus Miller, Weimin Bi, Alicia A. Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard

ORCID

, Bertrand Isidor, Stéphane Bézieau and 52 other authors

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

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Jing Zhang

ORCID

, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M. Al Shamsi, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel S. Roy and 24 other authors

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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Sébastien Küry, Thomas Besnard

ORCID

, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan J. Sanders, Khan Tn, Andrea Lehmann, Xenia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow and 52 other authors

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

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2016 Pierre Boisseau, Marie C. Bene, Thomas Besnard

ORCID

, Sinthuja Pachchek, Mathilde Giraud, Patricia Talarmain, Nelly Robillard, Marie A. Gourlaouen, Stéphane Bezieau, Marc Fouassier

A new mutation of ANO6 in two familial cases of Scott syndrome

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Mari J. Tokita, Alicia A. Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard

ORCID

, Bertrand Isidor, Xénia Latypova, Stéphane Bézieau, Pengfei Liu, Connie S. Motter, Catherine Ward Melver, Nathaniel H. Robin, Elena M. Infante and 12 other authors

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

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