Researcher Profile

Jana Vandrovcova

Publications

1,486

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Nature Medicine Oct 01, 2024

Increased frequency of repeat expansion mutations across different populations

Kristina Ibañez · Bharati Jadhav · Matteo Zanovello · Delia Gagliardi +26 more

10.1038/s41591-024-03190-5 63 citations

Open Access Journal Article The American Journal of Human Genetics Apr 01, 2019

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro · Nancy T. Malintan · Isabel Llano-Rivas · Christine G. Spaeth +72 more

10.1016/j.ajhg.2019.02.016 118 citations

Journal Article Nature Genetics Mar 29, 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese · Roberto Simone · Roisin Sullivan · Jana Vandrovcova +26 more

10.1038/s41588-019-0372-4 505 citations

Open Access Journal Article Genome Biology Jan 30, 2017

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Iris E. Jansen · Hui Ye · Sasja Heetveld · Marie C. Lechler +28 more

10.1186/s13059-017-1147-9 107 citations

Open Access Journal Article Briefings in Bioinformatics Nov 22, 2016

Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences

Claudia Manzoni · Demis A Kia · Jana Vandrovcova · John Hardy +3 more

10.1093/bib/bbw114 693 citations

Publication Timeline

2024

2019

2017

2016

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