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Martin Kircher

University of Washington
Max Planck Society
Charité

85

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20729

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

2021 Genome Medicine
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Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative

2020 Blood
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Bayesian Optimization Improves Tissue-Specific Prediction of Active Regulatory Regions with Deep Neural Networks

2020
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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

2020 Nature Protocols
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

2019 American Journal of Human Genetics
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Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay

2019 Human Mutation
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A systematic evaluation of the design, orientation, and sequence context dependencies of massively parallel reporter assays

2019 bioRxiv
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CADD: predicting the deleteriousness of variants throughout the human genome

2019 Nucleic Acids Research
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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

2019 Nature Communications
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DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): Clinical and genetic description of 11 new patients

2018
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Citations (5)