Max Schubach
Max Schubach
Computational Genome Biology, Berlin Institute of Health (BIH), Berlin, Germany
Bestätigte E-Mail-Adresse bei bihealth.de - Startseite
TitelZitiert vonJahr
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
2452012
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, 2014
1562014
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, WY Timothy, ...
Genome biology 15 (3), R53, 2014
792014
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
642016
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
632015
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
442016
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, 2014
432014
Short clones or long clones? A simulation study on the use of paired reads in metagenomics
S Mitra, M Schubach, DH Huson
BMC bioinformatics 11 (1), S12, 2010
282010
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
222015
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
182016
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), 773, 2015
172015
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), 3, 2018
92018
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, 2016
92016
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
D Döcker, M Schubach, M Menzel, C Spaich, HD Gabriel, M Zenker, ...
European Journal of Human Genetics 23 (3), 409, 2015
92015
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability
D Gadzicki, D Döcker, M Schubach, M Menzel, B Schmorl, F Stellmer, ...
Clinical genetics 88 (3), 300-302, 2015
82015
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
72017
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods
M Notaro, M Schubach, PN Robinson, G Valentini
BMC bioinformatics 18 (1), 449, 2017
42017
Alternate-locus aware variant calling in whole genome sequencing
M Jäger, M Schubach, T Zemojtel, K Reinert, DM Church, PN Robinson
Genome medicine 8 (1), 130, 2016
42016
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), 23, 2018
22018
Ensembling Descendant Term Classifiers to Improve Gene–Abnormal Phenotype Predictions
M Notaro, M Schubach, M Frasca, M Mesiti, PN Robinson, G Valentini
Proceedings of CIBB, 1, 2017
12017
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