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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Delphine Simon , Benoit Laloo , Malika Barillot , Thomas Barnetche , Camille Blanchard et al.
Human Molecular Genetics, 2010, 19 (10), pp.2015-2027. ⟨10.1093/hmg/ddq083⟩
Journal articles istex inserm-02437944v1

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

Julie Lavie , Román Serrat , Nadège Bellance , Gilles Courtand , Jean-William Dupuy et al.
Human Molecular Genetics, 2017, pp.ddw425. ⟨10.1093/hmg/ddw425⟩
Journal articles hal-02353858v1

Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of Fallot

Virginie Dubes , David Benoist , François Roubertie , Stephen Gilbert , Marion Constantin et al.
Circulation. Arrhythmia and electrophysiology, 2018, 11 (10), ⟨10.1161/CIRCEP.117.006059⟩
Journal articles hal-02369857v1

The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times

Doron M. Behar , Christine Harmant , Jeremy Manry , Mannis van Oven , Wolfgang Haak et al.
American Journal of Human Genetics, 2012, 90 (3), pp.486-493. ⟨10.1016/j.ajhg.2012.01.002⟩
Journal articles pasteur-03682002v1
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Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation

Mohsen Hosseini , Léa Dousset , Walid Mahfouf , Martin Serrano-Sanchez , Isabelle Redonnet-Vernhet et al.
Cell Reports, 2018, 23 (12), pp.3621-3634. ⟨10.1016/j.celrep.2018.05.060⟩
Journal articles hal-02421137v1

Elaboration of a semi-automated algorithm for brain arteriovenous malformation segmentation: initial results

Fanny Laffargue , Sylvie Bourthoumieu , Brigitte Llanas , Véronique Baudouin , Annie Lahoche et al.
European Radiology, 2015, 25 (2), pp.436-443. ⟨10.1007/s00330-014-3421-5⟩
Journal articles hal-02436954v1
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Gaelle Thierry , Claire Bénéteau , Olivier Pichon , Elisabeth Flori , Bertrand Isidor et al.
American Journal of Medical Genetics Part A, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
Journal articles inserm-00706725v1

A cannabinoid link between mitochondria and memory

Etienne Hebert-Chatelain , Tifany Desprez , Román Serrat , Luigi Bellocchio , Edgar Soria-Gómez et al.
Nature, 2016, 539 (7630), pp.555-559. ⟨10.1038/nature20127⟩
Journal articles hal-02353802v1

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

Gilles Millat , Patrice Bouvagnet , Philippe Chevalier , Laurent Sebbag , Arnaud Dulac et al.
European Journal of Medical Genetics, 2011, 54 (6), pp.e570-5. ⟨10.1016/j.ejmg.2011.07.005⟩
Journal articles istex hal-01017144v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Aurore Curie , Tatjana Nazir , Amandine Brun , Yves Paulignan , Anne Reboul et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1

Molecular Basis for Expression of Common and Rare Fragile Sites

Laurence Taine , Philippe Rocca-Serra , Azza Abd El Moneim , Nathalie Verdier , Kamran Moradkhani et al.
Molecular and Cellular Biology, 2003, 23 (20), pp.7143-7151. ⟨10.1128/MCB.23.20.7143-7151.2003⟩
Journal articles hal-02196288v1

Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism

Julie Lavie , Harmony de Belvalet , Sessinou Sonon , Ana Madalina Ion , Elodie Dumon et al.
Cell Reports, 2018, 23 (10), pp.2852-2863. ⟨10.1016/j.celrep.2018.05.013⟩
Journal articles hal-02353750v1
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New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1

Mutations in SETD2 cause a novel overgrowth condition

Armelle Luscan , Ingrid Laurendeau , Valérie Malan , Christine Francannet , Sylvie Odent et al.
Journal of Medical Genetics, 2014, 51 (8), pp.512--517. ⟨10.1136/jmedgenet-2014-102402⟩
Journal articles hal-01064581v1
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CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Grégoire Cullot , Julian Boutin , Jérôme Toutain , Florence Prat , Perrine Pennamen et al.
Nature Communications, 2019, 10, pp.1136. ⟨10.1038/s41467-019-09006-2⟩
Journal articles hal-02395971v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher et al.
Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩
Journal articles hal-02140150v1

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Sophie Nambot , Alice Masurel , Salima El Chehadeh , Anne-Laure Mosca-Boidron , Christel Thauvin-Robinet et al.
European Journal of Human Genetics, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
Journal articles hal-01400905v1
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Evidence of Pre-Roman Tribal Genetic Structure in Basques from Uniparentally Inherited Markers

Begoña Martínez-Cruz , Christine Harmant , Daniel E. Platt , Wolfgang Haak , Jeremy Manry et al.
Molecular Biology and Evolution, 2012, 29 (9), pp.2211 - 2222. ⟨10.1093/molbev/mss091⟩
Journal articles pasteur-03681978v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Journal articles hal-01237103v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy , Émilie Landais , Sylvain Briault , Albert David , Olivier Tassy et al.
European Journal of Human Genetics, 2012, 21 (6), pp.602 - 612. ⟨10.1038/ejhg.2012.230⟩
Journal articles hal-01707770v1
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Jérôme Delplanque , David Devos , Vincent Huin , Alexandre Genet , Olivier Sand et al.
Brain - A Journal of Neurology , 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩
Journal articles inserm-03017555v1