List of works - Max Schubach

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

scientific article published on 25 August 2016

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

scientific article published on 30 October 2020

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

scientific article published on 22 February 2021

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

scientific article published on 9 January 2018

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

scientific article published on 25 July 2019

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

scientific article

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

scientific article published on 6 February 2018

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

scientific article published on 23 June 2019

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

scientific article published on 08 July 2015

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

scientific article published in Scientific Reports

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

scientific article published on 12 October 2017

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

scientific article published on 08 August 2019

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

scientific article published on 15 April 2016

Targeted next generation sequencing as a diagnostic tool in epileptic disorders ⬇️

scientific article published on May 21, 2012

The impact of different negative training data on regulatory sequence predictions

scientific article published on 01 December 2020

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

scientific article published on 08 July 2020

List of works by Max Schubach