Publications
2019
Article in a journal
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
- Tristan Rey
- Julien Tarabeux
- Bénédicte Gerard
- Marion Delbarre
- Antony Le Béchec
- Corinne Stoetzel
- Megana Prasad
- Virginie Laugel-Haushalter
- Marzena Kawczynski
- Jean Muller
- Jamel Chelly
- Hélène Dollfus
- Marie-Cécile Maniere
- Agnès Bloch-Zupan
Methods in Molecular Biology ; Volume: 1922
Article in a journal
Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia
- A Delamarre
- Jamel Chelly
- D Guehl
- Nathalie Drouot
- Christine Tranchant
- Mathieu Anheim
- P Burbaud
Parkinsonism & Related Disorders ; Volume: 64 ; Page: 346-348
Article in a journal
Cell-Type-Specific Gene Expression Profiling in Adult Mouse Brain Reveals Normal and Disease-State Signatures
- Nicolas Merienne
- Cécile Meunier
- Anne Schneider
- Jonathan Seguin
- Satish Nair
- Anne Rocher
- Stephanie Le Gras
- Céline Keime
- Richard Faull
- Luc Pellerin
- Jean-Yves Chatton
- Christian Neri
- Karine Merienne
- Nicole Déglon
Cell Reports ; Volume: 26 ; Page: 2477-2493.e9
Article in a journal
GRIN2A-related disorders: genotype and functional consequence predict phenotype
- Vincent Strehlow
- Henrike O Heyne
- Danique R M Vlaskamp
- Katie F M Marwick
- Gabrielle Rudolf
- Julitta de Bellescize
- Saskia Biskup
- Eva H Brilstra
- Oebele F Brouwer
- Petra M C Callenbach
- Julia Hentschel
- Edouard Hirsch
- Peter C Kind
- Cyril Mignot
- Konrad Platzer
- Partick Rump
- Paul A Skehel
- David J A Wyllie
- Giles E Hardingham
- Conny M A van Ravenswaaij-Arts
- ...
Brain - A Journal of Neurology ; Volume: 142 ; Page: 80-92
Article in a journal
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
- Virginie Laugel-Haushalter
- Séverine Bär
- Elise Schaefer
- Corinne Stoetzel
- Véronique Geoffroy
- Yves Alembik
- Naji Kharouf
- Mathilde Huckert
- Pauline Hamm
- Joseph Hemmerlé
- Marie-Cécile Maniere
- Sylvie Friant
- Hélène Dollfus
- Agnès Bloch-Zupan
Frontiers in Genetics ; Volume: 10 ; Page: 504
Article in a journal
MIR sequences recruit zinc finger protein ZNF768 to expressed genes
- Michaela Rohrmoser
- Michael Kluge
- Yousra Yahia
- Anita Gruber-Eber
- Muhammad Ahmad Maqbool
- Ignasi Forné
- Stefan Krebs
- Helmut Blum
- Ann Katrin Greifenberg
- Matthias Geyer
- Nicolas Descostes
- Axel Imhof
- Jean Christophe Andrau
- Caroline Friedel
- Dirk Eick
Nucleic Acids Research ; Volume: 47 ; Page: 700-715
Article in a journal
Actin dynamics and the Bmp pathway drive apical extrusion of proepicardial cells
- Laura Andres-Delgado
- Alexa
- der Ernst
- Maria Galardi-Castilla
- David Bazaga
- Marina Peralta Lopez
- Juliane Munch
- Juan M Gonzalez-Rosa
- Inês Marques
- Federico Tessadori
- José Luis de La Pompa
- Julien Vermot
- Nadia Mercader
Development: For advances in developmental biology and stem cells ; Volume: 146
Article in a journal
Targeting bioactive compounds in natural extracts - Development of a comprehensive workflow combining chemical and biological data
- Lucie Ory
- El-Hassane Nazih
- Sahar Daoud
- Julia Mocquard
- Mélanie Bourjot
- Laure Margueritte
- Marc-André Delsuc
- Jean-Marie Bard
- Yves-François Pouchus
- Samuel Bertrand
- Catherine Roullier
Analytica Chimica Acta ; Volume: 1070 ; Page: 29-42
Article in a journal
Inhibition of tankyrase by a novel small molecule significantly attenuates prostate cancer cell proliferation
- Honglin Cheng
- Xin Li
- Chualin Wang
- Yujie Chen
- Sijiang Li
- Jincai Tan
- Bing Tan
- Yunfeng He
Cancer Letters ; Volume: 443 ; Page: 80-90
Article in a journal
Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements
- Aurélie Meneret
- Emmanuel Roze
- Jean-Baptiste Maranci
- Pauline Dodet
- Diane Doummar
- Florence Riant
- Christine Tranchant
- Valérie Fraix
- Mathieu Anheim
- Asya Ekmen
- Eavan Mcgovern
- Marie Vidailhet
- Isabelle Arnulf
- Smaranda Leu-Semenescu
Journal of Clinical Sleep Medicine ; Volume: 15 ; Page: 1021-1029