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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Arjan P M de Brouwer
,
Helger G Yntema
,
Tjitske Kleefstra
,
Dorien Lugtenberg
,
Astrid R Oudakker
et al.
Journal articles
hal-00655314v1
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed
,
Elke de Boer
,
Norine Voisin
,
Alexander J.M. Dingemans
,
Nicolas Guex
et al.
Journal articles
hal-03268683v1
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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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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Meena Balasubramanian
,
Alexander J M Dingemans
,
Shadi Albaba
,
Ruth Richardson
,
Thabo M Yates
et al.
Journal articles
hal-03113281v1
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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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Variants in CUL4B are Associated with Cerebral Malformations
Anneke T. Vulto-van Silfhout
,
Tadashi Nakagawa
,
Nadia Bahi-Buisson
,
Stefan A. Haas
,
Hao Hu
et al.
Journal articles
hal-01116441v1
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo
,
Elisa Bettella
,
Paul Marcogliese
,
Rongjuan Zhao
,
Jonathan Andrews
et al.
Journal articles
hal-02336893v1
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Davor Lessel
,
Claudia Schob
,
Sébastien Kury
,
Margot Reijnders
,
Tamar Harel
et al.
American Journal of Human Genetics, 2018, 102, pp.196
Journal articles
hal-02083022v1
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Rebecca Schüle
,
Dagmar Timmann
,
Corrie Erasmus
,
Jennifer Reichbauer
,
Melanie Wayand
et al.
Journal articles
hal-03983726v1
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly a.F. Stessman
,
Marjolein h. Willemsen
,
Michael Fenckova
,
Osnat Penn
,
Alexander Hoischen
et al.
Journal articles
hal-01405534v1
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GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
Pauline Burger
,
Florent Colin
,
Axelle Strehle
,
Timothée Mazzucotelli
,
Nicole Collot
et al.
Journal articles
hal-03887772v1
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GenIDA, une base de données participative internationale permettant de mieux connaître l'histoire naturelle et les comorbidités des formes génétiques de troubles neurodéveloppementaux
Jean-Louis Mandel
,
Pauline Burger
,
Axelle Strehle
,
Florent Colin
,
Timothée Mazzucotelli
et al.
Assises de Génétique Humaine et Médicale, Rennes, France, février 2022, Feb 2021, Rennes, France
Conference papers
hal-03799542v1
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The molecular and phenotypic spectrum of IQSEC2 -related epilepsy
Ayelet Zerem
,
Kazuhiro Haginoya
,
Dorit Lev
,
Lubov Blumkin
,
Sara Kivity
et al.
Journal articles
hal-01818978v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Kury
,
Geeske van Woerden
,
Thomas Besnard
,
Martina Onori
,
Xenia Latypova
et al.
American Journal of Human Genetics, 2017, 101, pp.768-788
Journal articles
hal-02103973v1
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok
,
Justine Rousseau
,
Joanna Twist
,
Sophie Ehresmann
,
Motoki Takaku
et al.
Journal articles
hal-01922858v1
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa Riley
,
Matthew Heeney
,
Joëlle Rudinger-Thirion
,
Magali Frugier
,
Dean Campagna
et al.
Journal articles
hal-02118688v1
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Mutations in TBR1 gene leads to cortical malformations and intellectual disability
Nancy Vegas
,
Mara Cavallin
,
Tjitske Kleefstra
,
Lonneke de Boer
,
Marion Philbert
et al.
Journal articles
hal-02878209v1
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
Elke de Boer
,
Charlotte Ockeloen
,
Rosalie Kampen
,
Juliet Hampstead
,
Alexander Dingemans
et al.
Journal articles
hal-03790568v1
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