D
Daphné Lehalle
Researcher at University of Burgundy
Publications - 54
Citations - 1502
Daphné Lehalle is an academic researcher from University of Burgundy. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 16, co-authored 49 publications receiving 964 citations. Previous affiliations of Daphné Lehalle include University of Paris & Sorbonne.
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Journal ArticleDOI
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Sophie Nambot,Julien Thevenon,Paul Kuentz,Yannis Duffourd,Emilie Tisserant,Ange-Line Bruel,Anne-Laure Mosca-Boidron,Alice Masurel-Paulet,Daphné Lehalle,Nolwenn Jean-Marçais,Mathilde Lefebvre,Pierre Vabres,Salima El Chehadeh-Djebbar,Christophe Philippe,Frédéric Tran Mau-Them,Judith St-Onge,Thibaud Jouan,Martin Chevarin,Charlotte Poe,Virginie Carmignac,Antonio Vitobello,Patrick Callier,Jean-Baptiste Rivière,Laurence Faivre,Christel Thauvin-Robinet +24 more
TL;DR: The effectiveness of periodically combining diagnostic reinterpretation of clinical WES data with translational research involving data sharing for candidate genes is highlighted.
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly A.F. Stessman,Marjolein H. Willemsen,Michaela Fenckova,Osnat Penn,Alexander Hoischen,Bo Xiong,Tianyun Wang,Kendra Hoekzema,Laura Vives,Ida Vogel,Han G. Brunner,Han G. Brunner,Ineke van der Burgt,Charlotte W. Ockeloen,Janneke H M Schuurs-Hoeijmakers,Jolien S. Klein Wassink-Ruiter,Connie T.R.M. Stumpel,Servi J. C. Stevens,Hans S.H. Vles,Carlo M. Marcelis,Hans van Bokhoven,Vincent Cantagrel,Vincent Cantagrel,Laurence Colleaux,Laurence Colleaux,Michael Nicouleau,Michael Nicouleau,Stanislas Lyonnet,Stanislas Lyonnet,Stanislas Lyonnet,Raphael Bernier,Jennifer Gerdts,Bradley P. Coe,Corrado Romano,Antonino Alberti,Lucia Grillo,Carmela Scuderi,Magnus Nordenskjöld,Malin Kvarnung,Hui Guo,Kun Xia,Amélie Piton,Bénédicte Gérard,David Geneviève,Bruno Delobel,Daphné Lehalle,Laurence Perrin,Fabienne Prieur,Julien Thevenon,Jozef Gecz,Marie Shaw,Rolph Pfundt,Boris Keren,Aurélia Jacquette,Annette Schenck,Evan E. Eichler,Evan E. Eichler,Tjitske Kleefstra +57 more
TL;DR: Common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues, are defined.
Journal ArticleDOI
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Hsiang Chih Lu,Hsiang Chih Lu,Qiumin Tan,Maxime W.C. Rousseaux,Wei Wang,Ji-Yoen Kim,Ronald Richman,Ying Wooi Wan,Szu Ying Yeh,Jay M. Patel,Xiuyun Liu,Tao Lin,Yoontae Lee,Yoontae Lee,John D. Fryer,John D. Fryer,Jing Han,Jing Han,Maria H. Chahrour,Maria H. Chahrour,Richard H. Finnell,Yunping Lei,Maria E. Zurita-Jimenez,Priyanka Ahimaz,Kwame Anyane-Yeboa,Lionel Van Maldergem,Daphné Lehalle,Nolwenn Jean-Marçais,Anne Laure Mosca-Boidron,Julien Thevenon,Margot A. Cousin,Della E. Bro,Brendan C. Lanpher,Eric W. Klee,Nora Alexander,Matthew N. Bainbridge,Harry T. Orr,Roy V. Sillitoe,M. Cecilia Ljungberg,Zhandong Liu,Christian P. Schaaf,Huda Y. Zoghbi +41 more
TL;DR: This study demonstrates that loss of ATXN1–CIC complexes causes a spectrum of neurobehavioral phenotypes, including intellectual disability, attention deficit/hyperactivity disorder (ADHD), and autism spectrum disorder.
Journal ArticleDOI
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Florian Villegas,Florian Villegas,Daphné Lehalle,Daniela Mayer,Daniela Mayer,Melanie Rittirsch,Michael B. Stadler,Michael B. Stadler,Marietta Zinner,Marietta Zinner,Daniel Olivieri,Pierre Vabres,Laurence Duplomb-Jego,Eveline S. J. M. de Bont,Yannis Duffourd,Floor A. M. Duijkers,Magali Avila,David Geneviève,Nada Houcinat,Thibaud Jouan,Paul Kuentz,Klaske D. Lichtenbelt,Christel Thauvin-Robinet,Judith St-Onge,Judith St-Onge,Julien Thevenon,Koen L.I. van Gassen,Mieke M. van Haelst,Silvana van Koningsbruggen,Daniel Hess,Sébastien A. Smallwood,Jean Baptiste Rivière,Jean Baptiste Rivière,Jean Baptiste Rivière,Laurence Faivre,Joerg Betschinger +35 more
TL;DR: In this article, an unbiased genome-wide CRISPR/Cas9 screen was conducted to identify components of a conserved amino acid-sensing pathway as critical drivers of ESC differentiation.
Journal ArticleDOI
A review of craniofacial disorders caused by spliceosomal defects
Daphné Lehalle,Dagmar Wieczorek,Roseli Maria Zechi-Ceide,Maria Rita Passos-Bueno,Stanislas Lyonnet,Stanislas Lyonnet,Stanislas Lyonnet,Jeanne Amiel,Jeanne Amiel,Jeanne Amiel,Christopher T. Gordon,Christopher T. Gordon +11 more
TL;DR: Given the apparent sensitivity of craniofacial development to defects in mRNA processing, it is possible that mutations in other proteins involved in spliceosomal function will emerge in the future as causative for related human disorders.