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Author Details

Dominik Seelow
Berliner Institut fur Gesundheitsforschung - Charite
2002
53
24
Gloria M Sheynkman (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37398049Alternative splicing is coupled to gene expression in a subset of variably expressed genes.bioRxiv2023
38049725Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks.BMC Genomics2023
37188825Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Eur J Hum Genet2023
37309890Editorial: the 21st annual Nucleic Acids Research Web Server Issue 2023.Nucleic Acids Res2023
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35639768FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.Nucleic Acids Res2022
35758881RegEl corpus: identifying DNA regulatory elements in the scientific literature.Database (Oxford)2022
35489060AutozygosityMapper: Identification of disease-mutations in consanguineous families.Nucleic Acids Res2022
35524573Deep phenotyping: symptom annotation made simple with SAMS.Nucleic Acids Res2022
36910590GA4GH Phenopackets: A Practical Introduction.Adv Genet (Hoboken)2022
33986412SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients.Sci Rep2021
33893808MutationTaster2021.Nucleic Acids Res2021
34038559Aviator: a web service for monitoring the availability of web services.Nucleic Acids Res2021
32505691An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.Eur J Med Genet2020
32338759Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.Nucleic Acids Res2020
32338743VarFish: comprehensive DNA variant analysis for diagnostics and research.Nucleic Acids Res2020
30417324Phenotero: Annotate as you write.Clin Genet2019
31106382RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.Nucleic Acids Res2019
31106342MutationDistiller: user-driven identification of pathogenic DNA variants.Nucleic Acids Res2019
30487246De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.J Med Genet2019
29425702Harmonising phenomics information for a better interoperability in the rare disease field.Eur J Med Genet2018
27209209A systematic, large-scale comparison of transcription factor binding site models.BMC Genomics2016
27440159Erratum to: A systematic, large-scale comparison of transcription factor binding site models.BMC Genomics2016
25446393Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.Mitochondrion2015
27066569Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.Neurol Genet2015
24162188Improved exome prioritization of disease genes through cross-species phenotype comparison.Genome Res2014
25055742GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.BMC Genomics2014
24681721MutationTaster2: mutation prediction for the deep-sequencing age.Nat Methods2014
23729504CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.J Med Genet2013
23665482Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.Matrix Biol2013
23623388ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.Am J Hum Genet2013
22669902HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.Nucleic Acids Res2012
21763480Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.Am J Hum Genet2011
22140562Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.PLoS One2011
20300641Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.PLoS Genet2010
20691256Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.Mol Cell Probes2010
20676075MutationTaster evaluates disease-causing potential of sequence alterations.Nat Methods2010
19254371FragIdent--automatic identification and characterisation of cDNA-fragments.BMC Genomics2009
19465395HomozygosityMapper--an interactive approach to homozygosity mapping.Nucleic Acids Res2009
19165332A systematic approach to mapping recessive disease genes in individuals from outbred populations.PLoS Genet2009
18252226Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.Am J Hum Genet2008
18950739The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.Am J Hum Genet2008
19057649GeneDistiller--distilling candidate genes from linkage intervals.PLoS One2008
17660207AssociationDB: web-based exploration of genomic association.Bioinformatics2007
17618285Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.Nat Genet2007
17186469Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.Am J Hum Genet2006
17033971Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.Am J Hum Genet2006
17086182Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.Nat Genet2006
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Collaborators

William Harvey Research Institute, Queen Mary University of London
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Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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Max Planck Institute for Molecular Genetics FG Development and Disease
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Berlin Institute of Health at Charite - Universitatsmedizin Berlin
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Boston Children's Hospital
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International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
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Biomedical Research Center, Slovak Academy of Sciences
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Cleveland Clinic
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Institute of Medical Genetics, Cardiff University
Co-authored papers 3
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Berlin Institute of Health
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
University of Colorado Anschutz Medical Campus
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University of Colorado - Anschutz Medical Campus
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Johns Hopkins University School of Medicine
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Institute for Genomic Statistics and Bioinformatics, University of Bonn
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University of Pennsylvania
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Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota
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Critical Path Institute
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Meyer Cancer Center
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Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University
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DOE Joint Genome Institute, Lawrence Berkeley National Laboratory
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University of Cambridge
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Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
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Tohoku University Graduate School of Medicine
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