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Bert van der Zwaag | Researchclopedia

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Bert van der Zwaag

Utrecht University

80

Works

4,618

Citations

33

h-index

51

i10-index

Research Topics

Renal Diseases and Glomerulopathies Renal and related cancers Genomics and Rare Diseases

Affiliations

University Medical Center Groningen2023–2023

Radboud University Nijmegen2002–2005

University of Groningen2015–2023

Utrecht University2012–2025

Leiden University Medical Center2023–2023

Top Works

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé,Sophie Currier,et al.

2002685 citations

Genetic and Kidney Cyst Diseases

Genomic variations and chromosomal abnormalities

Mobius syndrome redefined

H. T. F. M. Verzijl,Bert van der Zwaag,et al.

2003302 citations

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I. den Hollander,Robert K. Koenekoop,et al.

2007200 citations

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Erwin van Wijk,Bert van der Zwaag,et al.

2006186 citations

Contact in the genetics of autism and schizophrenia

J. Peter H. Burbach,Bert van der Zwaag

2009166 citations

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Isaäc J. Nijman,Joris M. van Montfrans,et al.

2013160 citations

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

Bert van der Zwaag,Lude Franke,et al.

2009143 citations

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

2021140 citations

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Rob W.J. Collin,Ersan Kalay,et al.

2008128 citations