Scientific publications
Publications
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2021
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
- Clarisse Delvallée
- Samuel Nicaise
- Manuela Antin
- Anne-Sophie Leuvrey
- Elsa Nourisson
- Carmen C Leitch
- Georgios Kellaris
- Corinne Stoetzel
- Véronique Geoffroy
- Sophie Scheidecker
- Boris Keren
- Christel Depienne
- Joakim Klar
- Niklas Dahl
- Jean-François Deleuze
- Emmanuelle Génin
- Richard Redon
- Florence Demurger
- K Devriendt
- Michele Mathieu-Dramard
- ...
Clinical Genetics ; Volume: 99 ; Page: 318-324
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
- Andreas Traschutz
- Andrea Cortese
- Selina Reich
- Natalia Dominik
- Jennifer Faber
- Heike Jacobi
- Annette M. Hartmann
- Dan Rujescu
- Solveig Montaut
- Andoni Echaniz‐laguna
- Yon Andoni Echaniz-Laguna
- Sevda Erer
- Valerie Cornelia Schütz
- Alexander A. Tarnutzer
- Marc Sturm
- Tobias B. Haack
- Nadège Vaucamps-Diedhiou
- Hélène Puccio
- Ludger Schöls
- Thomas Klockgether
- ...
Neurology ; Volume: 96
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Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project
- Nicole Mariani
- Alessandra Borsini
- Charlotte A.M. Cecil
- Janine Felix
- Sylvain Sebert
- Annamaria Cattaneo
- Esther Walton
- Yuri Milaneschi
- Guy Cochrane
- Clara Amid
- Jeena Rajan
- Juliette Giacobbe
- Yolanda Sanz
- Ana Agustí
- Tania Sorg
- Yann Herault
- Jouko Miettunen
- Priyanka Parmar
- Nadia Cattane
- Vincent Jaddoe
- ...
PLoS ONE ; Volume: 16 ; Page: e0245475
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Loss of POMC-mediated antinociception contributes to painful diabetic neuropathy
- Divija Deshpande
- Nitin Agarwal
- Thomas Fleming
- Claire Gaveriaux-Ruff
- Christophe S. N. Klose
- Anke Tappe-Theodor
- Roani Kuner
- Peter Nawroth
Nature Communications ; Volume: 12
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Single-cell RNA sequencing reveals intratumoral heterogeneity in primary uveal melanomas and identifies HES6 as a driver of the metastatic disease
- Charlotte Pandiani
- Thomas Strub
- Nicolas Nottet
- Yann Cheli
- Giovanni Gambi
- Karine Bille
- Chrystel Husser
- Mélanie Dalmasso
- Guillaume Béranger
- Sandra Lassalle
- Virginie Magnone
- Florence Pédeutour
- Marie Irondelle
- Célia Maschi
- Sacha Nahon-Estève
- Arnaud Martel
- Jean-Pierre Caujolle
- Paul Hofman
- Kévin Lebrigand
- Irwin Davidson
- ...
Cell Death and Differentiation
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Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms
- Anke Dijkstra
- Saif Haify
- Niek Verwey
- Niels Prins
- Esmay van Der Toorn
- Annemieke Rozemuller
- Marianna Bugiani
- Wilfred den Dunnen
- Peter Todd
- Nicolas Charlet-Berguerand
- Rob Willemsen
- Renate Hukema
- Jeroen Hoozemans
Brain Communications ; Volume: 3 ; Page: fcab007
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Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause
- V. Schneider
- M. Ferrari-Henquinet
- A. O. Diallo
- Jameleddine Chelly
- Mathieu Anheim
- Christine Tranchant
Revue Neurologique ; Volume: 177 ; Page: 707-708
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Combined In Vitro and In Vivo Approaches to Propose a Putative Adverse Outcome Pathway for Acute Lung Inflammation Induced by Nanoparticles: A Study on Carbon Dots
- Maud Weiss
- Jiahui Fan
- Mickaël Claudel
- Luc Lebeau
- Françoise Pons
- Carole Ronzani
MDPI AG ; Volume: 11 ; Page: 180
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EOSC-Life D1.2 EOSC repository deployment for project demonstrators
- Helen Parkinson
- Philip Gribbon
- Ugis Sarkans
- Gesa Witt
- Andrea Zaliani
- Manfred Kohler
- Jason Swedlow
- Jean-Marie Burel
- Morris Swertz
- Esther Van-Enckevort
- Petr Holub
- Marzia Massimi
- Rafaele Matteonie
- Holger Maier
- Reetta Hinttala
- Anne Heikkinen
- Philipp Gormanns
- Laura Del-Cano
- Laurent Vasseur
- Sophie Leblanc
- ...
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