Scientific publications
Publications
2016
Article in a journal
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
- Gabrielle Rudolf
- Gaetan Lesca
- Mana M. Mehrjouy
- Audrey Labalme
- Manal Salmi
- Iben Bache
- Nadine Bruneau
- Manuela Pendziwiat
- Joel Fluss
- Julitta de Bellescize
- Julia Scholly
- Rikke S. Møller
- Dana Craiu
- Niels Tommerup
- Maria Paola Valenti-Hirsch
- Caroline Schluth-Bolard
- Frédérique Sloan-Béna
- Katherine L. Helbig
- Sarah Weckhuysen
- Patrick Edery
- ...
European Journal of Human Genetics ; Volume: 24 ; Page: 1761-1770
Article in a journal
Solution structure of the 5'-terminal hairpin of the 7SK small nuclear RNA
- Sarah Bourbigot
- Anne-Catherine Dock-Bregeon
- Pascal Eberling
- Jérôme Coutant
- Bruno Kieffer
- Isabelle Lebars
RNA ; Volume: 22 ; Page: 1844-1858
Article in a journal
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
- Corinne Stoetzel
- Séverine Bär
- Johan-Owen de Craene
- Sophie Scheidecker
- Christelle Etard
- Johana Chicher
- Jennifer R Reck
- Isabelle Perrault
- Véronique Geoffroy
- Kirsley Chennen
- Uwe Strähle
- Philippe Hammann
- Sylvie Friant
- Hélène Dollfus
Nature Communications ; Volume: 7
Article in a journal
A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
- Mathilde Renaud
- Christophe Marcel
- Gabrielle Rudolf
- Mickaël Schaeffer
- Ouhaid Lagha-Boukbiza
- Jean-Baptiste Chanson
- Jamel Chelly
- Mathieu Anheim
- Christine Tranchant
BMC Neurology ; Volume: 16 ; Page: 238
Article in a journal
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
- Iris de Lange
- Katherine Helbig
- Sarah Weckhuysen
- Rikke Møller
- Milen Velinov
- Natalia Dolzhanskaya
- Eric Marsh
- Ingo Helbig
- Orrin Devinsky
- Sha Tang
- Heather Mefford
- Candace Myers
- Wim van Paesschen
- Pasquale Striano
- Koen van Gassen
- Marjan van Kempen
- Carolien de Kovel
- Juliette Piard
- Berge Minassian
- Marjan Nezarati
- ...
Journal of Medical Genetics ; Volume: 53 ; Page: 850-858
Article in a journal
Schizosaccharomyces pombe kinesin-5 switches direction using a steric blocking mechanism
- Adeline Goulet
- Mishan Britto
- Syeda Rizvi
- Ottilie von Loeffelholz
- Carolyn Moores
- Robert Cross
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 113 ; Page: E7483-E7489
Article in a journal
Eukaryotic Ribosome as a Target for Cardiovascular Disease
- Simone P Pellegrino
- Gulnara Yusupova
Cell Chemical Biology ; Volume: 17 ; Page: 1319-1321
Article in a journal
Comments on: fold change rank ordering statistics: a new method for detecting differentially expressed genes
- Doulaye Dembele
- Philippe Kastner
BMC Bioinformatics ; Volume: 17
Article in a journal
SUV4-20 activity in the preimplantation mouse embryo controls timely replication
- André Eid
- Diego Rodriguez-Terrones
- Adam Burton
- Maria-Elena Torres-Padilla
Genes and Development ; Volume: 30 ; Page: 2513-2526
Article in a journal
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation
- S. Atsem
- J. Reichenbach
- R. Potabattula
- M. Dittrich
- C. Nava
- Christel Depienne
- L. Bohm
- S. Rost
- T. Hahn
- M. Schorsch
- T. Haaf
- N. El Hajj
Human Molecular Genetics ; Volume: 25 ; Page: 4996-5005