Jana M. Schwarz
Berlin, BE 13353, Germany
Last Updated: 09/26/2026
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Found 13 publications
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Journal: International journal of molecular sciences
Published: December 16, 2024
Public data sources for regulatory genomic features.
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: February 15, 2021
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome.
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: February 02, 2021
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.
Journal: Molecular genetics and metabolism
Published: June 17, 2020
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
Journal: Nucleic acids research
Published: March 11, 2019
MutationDistiller: user-driven identification of pathogenic DNA variants.
Journal: Nucleic acids research
Published: March 11, 2019
Erratum to: A systematic, large-scale comparison of transcription factor binding site models.
Journal: BMC genomics
Published: July 22, 2016
A systematic, large-scale comparison of transcription factor binding site models.
Journal: BMC genomics
Published: April 15, 2016
MutationTaster2: mutation prediction for the deep-sequencing age.
Journal: Nature methods
Published: April 01, 2014
Last Updated: 09/26/2026