Author

Markus Zweier

University of ZurichORCID 0000-0001-8290-0413Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André ReisiD· 2 shared Bernt PoppiD· 2 shared Georgia VasileiouiD· 2 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared Andrea AccogliiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

André ReisORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

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GeneticsPrenatal DiagnosisPeer-reviewedSep 9, 2019

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

Georgia Vasileiou, Juliane Hoyer, Christian Thomas Thiel…·Bernt Popp

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

29 citations

humanwhole-exome sequencing

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