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Koen L.I. van Gassen

Utrecht University

91

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

2021 Genome Medicine
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The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

2021 Epilepsia
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

2021 Genetics in Medicine
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

2021 Nature Genetics
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

2021 American Journal of Human Genetics
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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.

2020 Genetics in Medicine
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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

2020 American Journal of Human Genetics
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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

2020 Journal of Medical Genetics
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

2020 bioRxiv
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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

2020
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