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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier , B. Aral , N. Hanna , S. Lambert , H. Dindy et al.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Journal articles hal-01068032v1
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Genetic predisposition to bilharziasis in humans: research methods and application to the study of Schistosoma mansoni infection

Laurent Abel , S Marquet , Christophe Chevillard , Nasr Eldin El-Wali , Dominique Hillaire et al.
Journal de la Société de Biologie, 2000, 194 (1), pp.15-8
Journal articles hal-01593093v1

The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.

Carles Hernandez-Ferrer , Leslie Matalonga , Rachel Thompson , Leigh Carmody , Davide Piscia et al.
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Conference poster hal-03988844v1
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LIS1-Related Isolated Lissencephaly

Yoann Saillour , Nathalie Carion , Chloe Quelin , Pierre-Louis Leger , Nathalie Boddaert et al.
Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Journal articles hal-01104698v1
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Molecular characterization of a new urea transporter in the human kidney

Bernadette Olivès , Sonia Martial , Marie-Geneviève Mattéi , Giorgio Matassi , Germain Rousselet et al.
FEBS Letters, 1996, 386, pp.156 - 160. ⟨10.1016/0014-5793(96)00425-5⟩
Journal articles hal-02376236v1

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

L. Faivre , Clothilde Esteve , L. Francescatto , P. L. Tan , A. Bourchany et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Journal articles hal-02461437v1

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari , Bruno Dumont , Aurelie J Fabre , Frédéric Tm Them , Yves Alembik et al.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Mario Abaji , Svetlana Gorokhova , Nathalie da Silva , Tiffany Busa , Maude Grelet et al.
GENES, 2022, 13 (7), ⟨10.3390/genes13071277⟩
Journal articles hal-03780226v1
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Philippe Khau van Kien , David Baux , Nathalie Pallares-Ruiz , Corinne Baudoin , Aurélie Plancke et al.
Human Mutation, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩
Journal articles hal-01669921v1

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn , Valérie Biancalana , Mathieu Cerino , Aurélien Perrin , Laurence Michel-Calemard et al.
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
Journal articles hal-02434896v1

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1
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Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands

Laurence Colleaux , Melanie May , Jérôme Belougne , Denis Lepaslier , Charles Schwartz et al.
Journal of Medical Genetics, 1996, 33, pp.353 - 357
Journal articles hal-02044588v1

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria Bramswig , Aida Bertoli-Avella , Beate Albrecht , Aida Al Aqeel , Amal Alhashem et al.
Human Genetics, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩
Journal articles hal-01932799v1

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Jean Muller , Corinne Stoetzel , Marie-Claire Vincent , Carmen C Leitch , Virginie Laurier et al.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Journal articles inserm-00462147v1

Transition in health care from childhood to adulthood for lysosomal diseases patients in France, current state and priorities: The TENALYS study

Nadia Belmatoug , Catherine Marcel , Armelle Arnoux , Anaïs Brassier , Samia Pichard et al.
Molecular Genetics and Metabolism, 2020, 129 (2), pp.S30. ⟨10.1016/j.ymgme.2019.11.050⟩
Journal articles hal-03885558v1

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

Pauline Romanet , Marie-Francoise Odou , Marie-Odile North , Alexandru Saveanu , Lucie Coppin et al.
Human Mutation, 2019, 40 (6), pp.661-674. ⟨10.1002/humu.23746⟩
Journal articles hal-02461447v1

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

N. Philip , Laurence Colleaux , S. Sigaudy , T. Attié-Bitach , C. Missirian et al.
American Journal of Medical Genetics Part A, 2005, 134A (1), pp.39-44. ⟨10.1002/ajmg.a.30468⟩
Journal articles istex hal-02142187v1
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The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene

F. Watrin , E. Le Meur , N. Roeckel , M. A. Ripoche , L. Dandolo et al.
BMC Genetics, 2005, 6, pp.1. ⟨10.1186/1471-2156-6-1⟩
Journal articles hal-00117244v1

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Sylvie Bannwarth , Samira Ait-El-Mkadem , Annabelle Chaussenot , Emmanuelle C. Genin , Sandra Lacas-Gervais et al.
Brain - A Journal of Neurology , 2016, 139 (4), pp.e22. ⟨10.1093/brain/awv368⟩
Journal articles hal-01336629v1
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Celine Bordet , Sandrine Brice , Carole Maupain , Estelle Gandjbakhch , Bertrand Isidor et al.
Journal of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
Journal articles hal-02882035v1
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SYNGAP1-DEE: A visual sensitive epilepsy

Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia et al.
Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩
Journal articles hal-03255478v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1
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A New Lamin A Mutation Associated with Acrogeria Syndrome

Smail Hadj-Rabia , Jacob Mashiah , Patrice Roll , Amandine Boyer , Patrice Bourgeois et al.
Journal of Investigative Dermatology, 2014, 134 (8), pp.2274-2277. ⟨10.1038/jid.2014.158⟩
Journal articles hal-01669120v1
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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Frederic Vely , Vincent Barlogis , Evelyne Marinier , Marie-Edith Coste , Beatrice Dubern et al.
Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩
Journal articles hal-02000323v1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Elodie Bal , Hyun-Sook Park , Zakia Belaid-Choucair , Hulya Kayserili , Magali Naville et al.
Nature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Journal articles hal-02415844v1

Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

Laetitia Marisa , Magali Svrcek , Ada Collura , Etienne Becht , Pascale Cervera et al.
JNCI: Journal of the National Cancer Institute, 2018, 110 (1), pp.68-77. ⟨10.1093/jnci/djx136⟩
Journal articles hal-01727817v1
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Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

Jean-Charles Viemari , Jean-Christophe Roux , Andrew K Tryba , Véronique Saywell , Henri Burnet et al.
Journal of Neuroscience, 2005, 25 (50), pp.11521-30. ⟨10.1523/JNEUROSCI.4373-05.2005⟩
Journal articles hal-00287790v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen et al.
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Journal articles hal-01617529v1