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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Sylvie Jaillard
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Séverine Drunat
,
Claude Bendavid
,
Azzedine Aboura
,
Amandine Etcheverry
et al.
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.
Journal articles
hal-03221134v1
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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.
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.
Journal articles
inserm-01813739v1
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry
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Jinwei Zhang
,
Thomas Besnard
,
Alfonso Caro-Llopis
,
Xue Zeng
et al.
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.
Journal articles
hal-01478814v1
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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 articles
hal-02064139v1
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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 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.
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.
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.
Journal articles
hal-01259225v1
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Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
et al.
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.
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.
Journal articles
hal-02453168v1
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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.
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
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Sophie Ehresmann
,
Eliane Beauregard-Lacroix
,
Justine Rousseau
,
Thomas Besnard
et al.
Journal articles
hal-02181523v1
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Journal articles
hal-01064380v1
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Delineation of 15q13.3 microdeletions.
Alice Masurel-Paulet
,
Joris Andrieux
,
Patrick Callier
,
Jean-Marie Cuisset
,
Cédric Le Caignec
et al.
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.
Journal articles
hal-01730199v1
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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
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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⟩
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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
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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 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.
Journal articles
hal-03661178v1
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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.
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.
Journal articles
hal-01237103v1
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