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authFullName_s : Tjitske Kleefstra

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.
Human Mutation, 2007, 28 (2), pp.207-8. ⟨10.1002/humu.9482⟩
Journal articles hal-00655314v1

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.
American Journal of Human Genetics, 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩
Journal articles hal-03268683v1

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
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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.
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
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.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

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.
Human Mutation, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
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.
Nature Communications, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Journal articles hal-02336893v1

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.
European Journal of Human Genetics, 2021, 29 (9), pp.1332-1336. ⟨10.1038/s41431-021-00901-1⟩
Journal articles hal-03983726v1

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.
American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩
Journal articles hal-01405534v1

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 of Neural Transmission, 2022, 27, pp.1-13. ⟨10.1007/s00702-022-02569-3⟩
Journal articles hal-03887772v1

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

The molecular and phenotypic spectrum of IQSEC2 -related epilepsy

Ayelet Zerem , Kazuhiro Haginoya , Dorit Lev , Lubov Blumkin , Sara Kivity et al.
Epilepsia, 2016, 57 (11), pp.1858 - 1869. ⟨10.1111/epi.13560⟩
Journal articles hal-01818978v1

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.
Nature Communications, 2018, 9 (1), pp.4619. ⟨10.1038/s41467-018-06014-6⟩
Journal articles hal-01922858v1

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.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1

Mutations in TBR1 gene leads to cortical malformations and intellectual disability

Nancy Vegas , Mara Cavallin , Tjitske Kleefstra , Lonneke de Boer , Marion Philbert et al.
European Journal of Medical Genetics, 2018, 61 (12), pp.759-764. ⟨10.1016/j.ejmg.2018.09.012⟩
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.
Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩
Journal articles hal-03790568v1