| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 37398049 | Alternative splicing is coupled to gene expression in a subset of variably expressed genes. | bioRxiv | 2023 |
| 38049725 | Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks. | BMC Genomics | 2023 |
| 37188825 | Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. | Eur J Hum Genet | 2023 |
| 37309890 | Editorial: the 21st annual Nucleic Acids Research Web Server Issue 2023. | Nucleic Acids Res | 2023 |
| 34379057 | Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. | J Med Genet | 2022 |
| 35705716 | The GA4GH Phenopacket schema defines a computable representation of clinical data. | Nat Biotechnol | 2022 |
| 35639768 | FABIAN-variant: predicting the effects of DNA variants on transcription factor binding. | Nucleic Acids Res | 2022 |
| 35758881 | RegEl corpus: identifying DNA regulatory elements in the scientific literature. | Database (Oxford) | 2022 |
| 35489060 | AutozygosityMapper: Identification of disease-mutations in consanguineous families. | Nucleic Acids Res | 2022 |
| 35524573 | Deep phenotyping: symptom annotation made simple with SAMS. | Nucleic Acids Res | 2022 |
| 36910590 | GA4GH Phenopackets: A Practical Introduction. | Adv Genet (Hoboken) | 2022 |
| 33986412 | SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients. | Sci Rep | 2021 |
| 33893808 | MutationTaster2021. | Nucleic Acids Res | 2021 |
| 34038559 | Aviator: a web service for monitoring the availability of web services. | Nucleic Acids Res | 2021 |
| 32505691 | An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. | Eur J Med Genet | 2020 |
| 32338759 | Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers. | Nucleic Acids Res | 2020 |
| 32338743 | VarFish: comprehensive DNA variant analysis for diagnostics and research. | Nucleic Acids Res | 2020 |
| 30417324 | Phenotero: Annotate as you write. | Clin Genet | 2019 |
| 31106382 | RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. | Nucleic Acids Res | 2019 |
| 31106342 | MutationDistiller: user-driven identification of pathogenic DNA variants. | Nucleic Acids Res | 2019 |
| 30487246 | De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. | J Med Genet | 2019 |
| 29425702 | Harmonising phenomics information for a better interoperability in the rare disease field. | Eur J Med Genet | 2018 |
| 27209209 | A systematic, large-scale comparison of transcription factor binding site models. | BMC Genomics | 2016 |
| 27440159 | Erratum to: A systematic, large-scale comparison of transcription factor binding site models. | BMC Genomics | 2016 |
| 25446393 | Clinical 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. | Mitochondrion | 2015 |
| 27066569 | Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. | Neurol Genet | 2015 |
| 24162188 | Improved exome prioritization of disease genes through cross-species phenotype comparison. | Genome Res | 2014 |
| 25055742 | GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files. | BMC Genomics | 2014 |
| 24681721 | MutationTaster2: mutation prediction for the deep-sequencing age. | Nat Methods | 2014 |
| 23729504 | CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts. | J Med Genet | 2013 |
| 23665482 | Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. | Matrix Biol | 2013 |
| 23623388 | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. | Am J Hum Genet | 2013 |
| 22669902 | HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing. | Nucleic Acids Res | 2012 |
| 21763480 | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | Am J Hum Genet | 2011 |
| 22140562 | Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing. | PLoS One | 2011 |
| 20300641 | Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. | PLoS Genet | 2010 |
| 20691256 | Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. | Mol Cell Probes | 2010 |
| 20676075 | MutationTaster evaluates disease-causing potential of sequence alterations. | Nat Methods | 2010 |
| 19254371 | FragIdent--automatic identification and characterisation of cDNA-fragments. | BMC Genomics | 2009 |
| 19465395 | HomozygosityMapper--an interactive approach to homozygosity mapping. | Nucleic Acids Res | 2009 |
| 19165332 | A systematic approach to mapping recessive disease genes in individuals from outbred populations. | PLoS Genet | 2009 |
| 18252226 | Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. | Am J Hum Genet | 2008 |
| 18950739 | The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. | Am J Hum Genet | 2008 |
| 19057649 | GeneDistiller--distilling candidate genes from linkage intervals. | PLoS One | 2008 |
| 17660207 | AssociationDB: web-based exploration of genomic association. | Bioinformatics | 2007 |
| 17618285 | Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. | Nat Genet | 2007 |
| 17186469 | Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. | Am J Hum Genet | 2006 |
| 17033971 | Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. | Am J Hum Genet | 2006 |
| 17086182 | Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. | Nat Genet | 2006 |