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authFullName_s : Pascale Saugier-Veber
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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.
Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩
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.
Acta Neuropathologica Communications, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩
Journal articles hal-01903168v1

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.
neurogenetics, 2012, 13 (1), pp.49-59. ⟨10.1007/s10048-011-0307-4⟩
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.
Molecular Autism, 2013, 4 (1), pp.29. ⟨10.1186/2040-2392-4-29⟩
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.
European Journal of Human Genetics, 2019, 27 (10), pp.1481-1484. ⟨10.1038/s41431-019-0438-x⟩
Journal articles hal-02904506v1

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.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1

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.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Journal articles hal-02538107v1

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.
Molecular Genetics & Genomic Medicine, 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩
Journal articles hal-02336138v1

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.
Human Mutation, 2011, 32 (9), pp.989-994. ⟨10.1002/humu.21528⟩
Journal articles istex hal-02336367v1

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat , et al.
Human Genetics, 2022, ⟨10.1007/s00439-017-1811-x⟩
Journal articles hal-03805825v1

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.
Human Mutation, 2022, 43 (9), pp.1239-1248. ⟨10.1002/humu.24384⟩
Journal articles hal-03822689v1

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

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 of Neuromuscular Diseases, 2016, 3 (4), pp.487-495. ⟨10.3233/JND-160177⟩
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.
European Journal of Human Genetics, 2011, 19 (11), pp.1198-201. ⟨10.1038/ejhg.2011.95⟩
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.
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
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.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
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.
PLoS ONE, 2012, 7 (3), ⟨10.1371/journal.pone.0030778⟩
Journal articles hal-01439710v1

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.
Human Molecular Genetics, 2014, 23 (9), pp.2279--2289. ⟨10.1093/hmg/ddt618⟩
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.
European Journal of Medical Genetics, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
Journal articles hal-02904491v1

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.
Human Mutation, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩
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.
Preprints, Working Papers, ... hal-02317979v2

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.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Journal articles hal-02883904v1

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.
Autoimmunity, 2015, 48 (8), pp.532-541. ⟨10.3109/08916934.2015.1077230⟩
Journal articles hal-02513298v1

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

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.
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
Journal articles hal-02005698v1

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.
Acta Neuropathologica, 2010, 119 (6), pp.779-789. ⟨10.1007/s00401-010-0684-z⟩
Journal articles istex hal-02332580v1

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.
European Journal of Medical Genetics, 2019, pp.103814. ⟨10.1016/j.ejmg.2019.103814⟩
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 of Medical Genetics, 2010, 47 (1), pp.22-9. ⟨10.1136/jmg.2009.069732⟩
Journal articles inserm-00406331v1

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Abdellah Tebani , Bénédicte Sudrié-Arnaud , Ivana Dabaj , Stéphanie Torre , Laur Domitille , et al.
Journal of Medical Genetics, 2020, 59 (4), pp.377-384. ⟨10.1136/jmedgenet-2020-107510⟩
Journal articles hal-03797489v1

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.
American Journal of Medical Genetics Part A, 2019, 179 (11), pp.2257-2262. ⟨10.1002/ajmg.a.61317⟩
Journal articles hal-02356422v1