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Max Schubach
Max Schubach
Computational Genome Biology, Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Verified email at bih-charite.de - Homepage
Title
Cited by
Cited by
Year
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
P Rentzsch, M Schubach, J Shendure, M Kircher
Genome medicine 13, 1-12, 2021
4452021
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
JR Lemke, E Riesch, T Scheurenbrand, M Schubach, C Wilhelm, I Steiner, ...
Epilepsia 53 (8), 1387-1398, 2012
3982012
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
3562015
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
N Glöckle, S Kohl, J Mohr, T Scheurenbrand, A Sprecher, N Weisschuh, ...
European journal of human genetics 22 (1), 99-104, 2014
2892014
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
2822016
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
M Kircher, C Xiong, B Martin, M Schubach, F Inoue, RJA Bell, JF Costello, ...
Nature communications 10 (1), 3583, 2019
1902019
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1212014
Mutation detection in patients with retinal dystrophies using targeted next generation sequencing
N Weisschuh, AK Mayer, TM Strom, S Kohl, N Glöckle, M Schubach, ...
PloS one 11 (1), e0145951, 2016
1122016
Imbalance-aware machine learning for predicting rare and common disease-associated non-coding variants
M Schubach, M Re, PN Robinson, G Valentini
Scientific reports 7 (1), 2959, 2017
1082017
Further delineation of the SATB2 phenotype
D Döcker, M Schubach, M Menzel, M Munz, C Spaich, S Biskup, ...
European Journal of Human Genetics 22 (8), 1034-1039, 2014
1032014
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
892019
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome Medicine 10, 1-13, 2018
882018
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements
MG Gordon, F Inoue, B Martin, M Schubach, V Agarwal, S Whalen, ...
Nature protocols 15 (8), 2387-2412, 2020
772020
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1
M Kettwig, M Schubach, FA Zimmermann, L Klinge, JA Mayr, S Biskup, ...
Mitochondrion 21, 12-18, 2015
572015
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
S Srivastava, H Engels, I Schanze, K Cremer, T Wieland, M Menzel, ...
European Journal of Human Genetics 24 (4), 556-561, 2016
502016
Haploinsufficiency of the notch ligand DLL1 causes variable neurodevelopmental disorders
B Fischer-Zirnsak, L Segebrecht, M Schubach, P Charles, E Alderman, ...
The American Journal of Human Genetics 105 (3), 631-639, 2019
492019
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope …
K Sonntag, H Hashimoto, M Eyrich, M Menzel, M Schubach, D Döcker, ...
Journal of translational medicine 16, 1-13, 2018
492018
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay
D Shigaki, O Adato, AN Adhikari, S Dong, A Hawkins‐Hooker, F Inoue, ...
Human mutation 40 (9), 1280-1291, 2019
442019
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
I Filges, E Bruder, K Brandal, S Meier, DE Undlien, TR Waage, I Hoesli, ...
Human mutation 37 (4), 359-363, 2016
432016
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations
J Peveling-Oberhag, F Wolters, C Döring, D Walter, L Sellmann, ...
BMC cancer 15, 1-10, 2015
402015
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