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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Thomas Husson
,
François Lecoquierre
,
Kevin Cassinari
,
Camille Charbonnier
,
Olivier Quenez
,
et al.
Journal articles
hal-02538173v1
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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Myriam Vezain
,
Matthieu Lecuyer
,
Marina Rubio
,
Valérie Dupé
,
Leslie Ratié
,
et al.
Journal articles
hal-01903168v1
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Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Mariola Marx
,
Simone Diestel
,
Muriel Bozon
,
Laura Keglowich
,
Nathalie Drouot
,
et al.
Journal articles
istex
hal-00720089v1
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Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
Sylvie Tordjman
,
George Anderson
,
David Cohen
,
Solenn Kermarrec
,
Michèle Carlier
,
et al.
Journal articles
inserm-00868741v1
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Searching for secondary findings: considering actionability and preserving the right not to know
Bertrand Isidor
,
Sophie Julia
,
Pascale Saugier-Veber
,
Paul-Loup Weil-Dubuc
,
Stephane Bezieau
,
et al.
Journal articles
hal-02904506v1
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Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg
,
Florence Riccardi
,
Aude Tessier
,
Rolph Pfundt
,
Tiffany Busa
,
et al.
Journal articles
istex
hal-01469066v1
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
,
et al.
Journal articles
hal-02538107v1
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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants
Pascaline Gaildrat
,
Saïd Lebbah
,
Abdellah Tebani
,
Bénédicte Sudrié-Arnaud
,
Isabelle Tostivint
,
et al.
Journal articles
hal-02336138v1
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A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy
Myriam Vezain
,
Bénédicte Gérard
,
Séverine Drunat
,
Benoît Funalot
,
Séverine Fehrenbach
,
et al.
Journal articles
istex
hal-02336367v1
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Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Myriam Vezain
,
Christel Thauvin-Robinet
,
Yoann Vial
,
Sophie Coutant
,
Séverine Drunat
,
et al.
Journal articles
hal-03805825v1
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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Juliette Coursimault
,
Anne Rovelet-Lecrux
,
Kévin Cassinari
,
Elise Brischoux-Boucher
,
Pascale Saugier-Veber
,
et al.
Journal articles
hal-03822689v1
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Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder
Pascale Saugier-Veber
American Journal of Medical Genetics, 2019
Journal articles
hal-02360738v1
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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
Sarah Grotto
,
Jean-Marie Cuisset
,
Stéphane Marret
,
Séverine Drunat
,
Patricia Faure
,
et al.
Journal articles
hal-02452334v1
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Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
Jamal Ghoumid
,
Joris Andrieux
,
Bernard Sablonnière
,
Sylvie Odent
,
Nathalie Philippe
,
et al.
Journal articles
hal-00649446v1
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Anne-Laure Mosca-Boidron
,
Lucie Gueneau
,
Guillaume Huguet
,
Alice Goldenberg
,
Céline Henry
,
et al.
Journal articles
pasteur-01342825v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
,
Michelle Morrow
,
Catherine Schramm
,
Francisca Millan Zamora
,
et al.
Journal articles
hal-03820933v1
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Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
Sylvie Tordjman
,
George M. Anderson
,
Michel Botbol
,
Annick Toutain
,
Pierre Sarda
,
et al.
Journal articles
hal-01439710v1
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
Annie Laquérriere
,
Jérome Maluenda
,
Adrien Camus
,
Laura Fontenas
,
Klaus Dieterich
,
et al.
Journal articles
hal-01064295v1
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Gabriella Vera
,
Arthur Sorlin
,
Geoffroy Delplancq
,
François Lecoquierre
,
Marie Brasseur-Daudruy
,
et al.
Journal articles
hal-02904491v1
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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
Myriam Vezain
,
Pascale Saugier-Veber
,
Elisa Goina
,
Renaud Touraine
,
Vã©ronique Manel
,
et al.
Journal articles
istex
hal-02336380v1
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Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation
Olivier Quenez
,
Kevin Cassinari
,
Sophie Coutant
,
Francois Lecoquierre
,
Kilan Le Guennec
,
et al.
2019
Preprints, Working Papers, ...
hal-02317979v2
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Olivier Quenez
,
Kevin Cassinari
,
Sophie Coutant
,
Francois Lecoquierre
,
Kilan Le Guennec
,
et al.
Journal articles
hal-02883904v1
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Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1
Sylvain Dubucquoi
,
Emmanuelle Proust Proust-Lemoine
,
E. Helen Kemp
,
Amélie Ryndak
,
Virginie Lefèvre-Dutoit
,
et al.
Journal articles
hal-02513298v1
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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.
Journal articles
hal-01400905v1
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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
Daphne Lehalle
,
Umut Altunoglu
,
Ange-Line Bruel
,
Mirna Assoum
,
Yannis Duffourd
,
et al.
Journal articles
hal-02005698v1
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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Magalie Lecourtois
,
Karine Poirier
,
Gaëlle Friocourt
,
Xavier Jaglin
,
Alice Goldenberg
,
et al.
Journal articles
istex
hal-02332580v1
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Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B
Pascale Saugier-Veber
,
Florent Marguet
,
Myriam Vezain
,
Martine Bucourt
,
Pascaline Létard
,
et al.
Journal articles
hal-02445306v1
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Nathalie Le Meur
,
Muriel Holder-Espinasse
,
Sylvie Jaillard
,
Alice Goldenberg
,
Sylvie Joriot
,
et al.
Journal articles
inserm-00406331v1
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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Abdellah Tebani
,
Bénédicte Sudrié-Arnaud
,
Ivana Dabaj
,
Stéphanie Torre
,
Laur Domitille
,
et al.
Journal articles
hal-03797489v1
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Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
François Lecoquierre
,
Antoine Bonnevalle
,
Alexandra Chadie
,
Claire Gayet
,
Clémentine Dumant-Forest
,
et al.
Journal articles
hal-02356422v1
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