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Author Details

Max Schubach
Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin
2010
34
20
PMIDPaper TitleJournal TitlePublished Year
36945371Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types.bioRxiv2023
35276006Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.J Clin Endocrinol Metab2022
37083939The Regulatory Mendelian Mutation score for GRCh38.Gigascience2022
36510125Boosting tissue-specific prediction of active cis-regulatory regions through deep learning and Bayesian optimization techniques.BMC Bioinformatics2022
33128032Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.Nat Protoc2021
33618777CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.Genome Med2021
32444882parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.Gigascience2020
33259518The impact of different negative training data on regulatory sequence predictions.PLoS One2020
32641802lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.Nat Protoc2020
31106481Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.Hum Mutat2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31395865Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.Nat Commun2019
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
29310717Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Genome Med2018
30279461Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.Sci Rep2018
29409514Immune 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.J Transl Med2018
28592878Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants.Sci Rep2017
29025394Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.BMC Bioinformatics2017
26153216Loss-of-function variants in HIVEP2 are a cause of intellectual disability.Eur J Hum Genet2016
27964746Alternate-locus aware variant calling in whole genome sequencing.Genome Med2016
27300082Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Hum Mutat2016
27569544A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Am J Hum Genet2016
26766544Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.PLoS One2016
26820108Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Hum Mutat2016
24939587Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Eur J Hum Genet2015
26562621Next-generation diagnostics and disease-gene discovery with the Exomiser.Nat Protoc2015
26498442Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations.BMC Cancer2015
25522177Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.Clin Genet2015
25583628From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.Mitochondrion2015
23591405Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Eur J Hum Genet2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
24301056Further delineation of the SATB2 phenotype.Eur J Hum Genet2014
22612257Targeted next generation sequencing as a diagnostic tool in epileptic disorders.Epilepsia2012
20122183Short clones or long clones? A simulation study on the use of paired reads in metagenomics.BMC Bioinformatics2010
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Collaborators

Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 11
Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Co-authored papers 9
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 8
Jay Shendure
University of Washington
Co-authored papers 6
Marten J??ger
Charite Universitatsmedizin Berlin
Co-authored papers 5
Giorgio Valentini
Universita degli Studi di Milano
Co-authored papers 5
Nadav Ahituv
University of California san francisco
Co-authored papers 5
Tomasz Zemojtel
Berlin Institute of Health (BIH)
Co-authored papers 4
Stefan Mundlos
Max Planck Institute for Molecular Genetics
Co-authored papers 4
Sebastian K??hler
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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Vikram Agarwal
University of Washington
Co-authored papers 3
Uwe Kornak
Institute of Human Genetics, University Medical Center Gottingen
Co-authored papers 3
Nadja Ehmke
Berlin Institute of Health at Charite - Universitatsmedizin Berlin
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Deborah Bartholdi
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Denise Horn
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Nir Yosef
Center for Computational Biology, University of California berkeley
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Chun Jimmie Ye
University of California san francisco
Co-authored papers 2
Nicole L Washington
Renaissance Computing Institute, University of North Carolina
Co-authored papers 2
Malte Spielmann
Max Planck Institute for Molecular Genetics
Co-authored papers 2
Katherine S Pollard
Gladstone Institutes
Co-authored papers 2
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Co-authored papers 2
Alessandro Petrini
Universita degli Studi di Milano
Co-authored papers 2
Melissa A Haendel
Co-authored papers 2
Petter Str??mme
University of Oslo
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Manuel Holtgrewe
Berlin Institute of Health
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Julius O B Jacobsen
William Harvey Research Institute, Queen Mary University of London
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Martin Zenker
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Matteo Re
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