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authFullName_s : Brigitte Gilbert-Dussardier

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

Sylvie Jaillard , Séverine Drunat , Claude Bendavid , Azzedine Aboura , Amandine Etcheverry et al.
European Journal of Medical Genetics, 2010, 53 (2), pp.66-75. ⟨10.1016/j.ejmg.2009.10.002⟩
Journal articles istex inserm-00434932v1
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne , Hélène Demory , Aubin Moutal , Marie-Laure Vuillaume , Sophie Blesson et al.
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
Journal articles hal-03221134v1

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Loïc Couloigner , Marc Planes , Chandran Ka , Séverine Audebert-Bellanger , Sylvia Redon et al.
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Journal articles hal-03930818v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng et al.
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
Journal articles hal-03790515v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
Journal articles hal-01478814v1

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1

Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

Oriane Leuret , Magalie Barth , Alice Kuster , Didier Eyer , Loïc de Parscau et al.
Journal of Inherited Metabolic Disease, 2012, 35 (6), pp.975-981. ⟨10.1007/s10545-012-9464-3⟩
Journal articles istex inserm-00679536v1
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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
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1

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
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar , Cagri Ogur , Sabrina da Costa , Inès Braham , Line Billaud-Rist et al.
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Journal articles hal-03790543v1
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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Lamisse Mansour-Hendili , Anne Blanchard , Nelly Le Pottier , Isabelle Roncelin , Stéphane Lourdel et al.
Human Mutation, 2015, 36 (8), pp.743-752. ⟨10.1002/humu.22804⟩
Journal articles hal-02453168v1

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

Kévin Uguen , Kilannin Krysiak , Séverine Audebert-Bellanger , Sylvia Redon , Caroline Benech et al.
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Journal articles hal-03282329v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard et al.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Jean-Benoît Courcet , Laurence Faivre , Caroline Michot , Antoine Burguet , Stéphanie Perez-Martin et al.
The Journal of Pediatrics, 2013, 163 (3), pp.742--746. ⟨10.1016/j.jpeds.2013.02.032⟩
Journal articles hal-01064380v1

Delineation of 15q13.3 microdeletions.

Alice Masurel-Paulet , Joris Andrieux , Patrick Callier , Jean-Marie Cuisset , Cédric Le Caignec et al.
Clinical Genetics, 2010, 78 (2), pp.149-61. ⟨10.1111/j.1399-0004.2010.01374.x⟩
Journal articles istex inserm-00466147v1
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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Marie-Laure Vuillaume , Mederic Jeanne , Li Xue , Sophie Blesson , Anne-Sophie Denomme-Pichon et al.
Annals of Neurology, 2018, 83 (2), pp.437-439. ⟨10.1002/ana.25155⟩
Journal articles hal-01730199v1

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Frédérique Béna , Damien L Bruno , Mats Eriksson , Conny van Ravenswaaij-Arts , Zornitza Stark et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013, 162B (4), pp.388-403. ⟨10.1002/ajmg.b.32148⟩
Journal articles istex hal-01120394v1

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Edouard Cottereau , Isabelle Mortemousque , Marie-Pierre Moizard , Lydie Bürglen , Didier Lacombe et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2013, 163C (2), pp.92--105. ⟨10.1002/ajmg.c.31360⟩
Journal articles istex hal-01064382v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Journal articles hal-01691932v1

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel et al.
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal articles hal-03863519v1
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee et al.
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
Journal articles hal-03661178v1

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A from acrodysostosis to acroscyphodysplasia

Caroline Michot , Carine Le Goff , Edward Blair , Patricia Blanchet , Yline Capri et al.
European Journal of Human Genetics, 2018, 26 (11), pp.1611-1622. ⟨10.1038/s41431-018-0135-1⟩
Journal articles hal-01863363v1
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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