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Author Details

Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
2008
77
42
PMIDPaper TitleJournal TitlePublished Year
36755093Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Nature2023
38025047GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level.NAR Genom Bioinform2023
37084271Predicting the pathogenicity of missense variants using features derived from AlphaFold2.Bioinformatics2023
36945371Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types.bioRxiv2023
36640767Machine learning dissection of human accelerated regions in primate neurodevelopment.Neuron2023
35197310A framework to score the effects of structural variants in health and disease.Genome Res2022
35770352Results of genetic analysis of 11â¿¿341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.J Thromb Haemost2022
35483875Computational and experimental methods for classifying variants of unknown clinical significance.Cold Spring Harb Mol Case Stud2022
37083939The Regulatory Mendelian Mutation score for GRCh38.Gigascience2022
37034418Systematic assays and resources for the functional annotation of non-coding variants.Med Genet2022
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
32497118HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data.PLoS Comput Biol2020
33046894A systematic evaluation of the design and context dependencies of massively parallel reporter assays.Nat Methods2020
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
30371827CADD: predicting the deleteriousness of variants throughout the human genome.Nucleic Acids Res2019
31739790Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement.BMC Biol2019
30117111DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.JIMD Rep2019
31395865Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.Nat Commun2019
30945312Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.J Inherit Metab Dis2019
31106481Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.Hum Mutat2019
30554721GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.Am J Hum Genet2019
29785012Multiplex assessment of protein variant abundance by massively parallel sequencing.Nat Genet2018
30414627Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.Am J Hum Genet2018
29524275Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.Hum Mutat2018
29717003Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.Genome Res2018
27831498A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.Genome Res2017
28216230Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Mitochondrion2017
28327635The evolutionary and phylogeographic history of woolly mammoths: a comprehensive mitogenomic analysis.Sci Rep2017
29296726Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.Blood Adv2017
28856833Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.Am J Med Genet A2017
27023906Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Hum Genet2016
26633546Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Genet Med2016
27631024<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.JCI Insight2016
27480077SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Am J Med Genet A2016
26886800Ancient gene flow from early modern humans into Eastern Neanderthals.Nature2016
26771485Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin.Cell2016
26931382ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Hum Mutat2016
25472942Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.Cancer Discov2015
26264460Expanding the Molecular and Clinical Phenotype of SSR4-CDG.Hum Mutat2015
26220134Running spell-check to identify regulatory variants.Nat Genet2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25917818Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.Genome Res2015
25887593Evaluating intra- and inter-individual variation in the human placental transcriptome.Genome Biol2015
25898808Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.Am J Med Genet A2015
24218363A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.Hum Mol Genet2014
25140959Somatic mutations in cerebral cortical malformations.N Engl J Med2014
24753607Patterns of coding variation in the complete exomes of three Neandertals.Proc Natl Acad Sci U S A2014
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Technical University of Denmark
Co-authored papers 3
Nir Yosef
Center for Computational Biology, University of California berkeley
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Rasmus Nielsen
Co-authored papers 2
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 2
Miao He
Children's Hospital of Philadelphia
Co-authored papers 2
Vernon R Sutton
Baylor College of Medicine
Co-authored papers 2
Chun Jimmie Ye
University of California san francisco
Co-authored papers 2
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Co-authored papers 2
Release 1.2