Frank Kooy

基本信息

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职业迁徙

个人简介

Geneticist, with experience in many aspects of the disciple. Currently involved in the elucidation of the molecular basis of human genetic disorders including intellectual disability and autism. Pioneer in translational research.

研究兴趣

论文共 302 篇作者统计合作学者相似作者

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ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

Claudio D’Incal,Anke Van Dijck,Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings,Ellen Elinck, lllana Gozes, Zlatko Marusic,Mirna Anicic,Jurica Vukovic,Nathalie Van der Aa,

Acta Neuropathologica Communicationsno. 1 (2024): 1-32

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Identification of a DLG3 stop mutation in the MRX20 family

Jolien Huyghebaert,Ligia Mateiu,Ellen Elinck, Kirsten Esther Van Rossem, Bregje Christiaenssen, Claudio Peter D’Incal,Michael K. McCormack, Alice Lazzarini,Geert Vandeweyer,R. Frank Kooy

European Journal of Human Geneticsno. 3 (2024): 317-323

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono,Lucie Dupuis,

European journal of human genetics : EJHGpp.1-10, (2024)

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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome