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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
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- Article
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304520
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- Article
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032
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- Article
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.
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- PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010889
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- Article
Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
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- Genes, 2023, v. 14, n. 8, p. 1573, doi. 10.3390/genes14081573
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- Publication type:
- Article
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
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- Article
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
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- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
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- Article
A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair.
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- Clinical Chemistry, 2023, v. 69, n. 3, p. 213, doi. 10.1093/clinchem/hvac141
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- Article
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
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- Article
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
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- Cells (2073-4409), 2022, v. 11, n. 22, p. 3640, doi. 10.3390/cells11223640
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- Article
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
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- Nucleic Acids Research, 2022, v. 50, n. 17, p. e97, doi. 10.1093/nar/gkac511
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- Publication type:
- Article
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer.
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- Cancers, 2022, v. 14, n. 18, p. N.PAG, doi. 10.3390/cancers14184417
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- Article
Clinical exome sequencing—Mistakes and caveats.
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- Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360
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- Publication type:
- Article
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 682, doi. 10.1002/jimd.12522
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- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
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- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
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- Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
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- Article
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
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- Metabolites (2218-1989), 2021, v. 11, n. 9, p. 568, doi. 10.3390/metabo11090568
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- Article
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
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- Human Mutation, 2021, v. 42, n. 8, p. 1066, doi. 10.1002/humu.24219
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- Article
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00907-w
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- Publication type:
- Article
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23327-1
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- Article
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 557, doi. 10.3390/genes12040557
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- Article
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
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- 2020
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- Publication type:
- journal article
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01024-y
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- Publication type:
- Article
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 921, doi. 10.1002/humu.23992
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- Publication type:
- Article
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2300, doi. 10.3390/ijms21072300
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- Publication type:
- Article
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959
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- Publication type:
- Article
Deregulated Adhesion Program in Palatal Keratinocytes of Orofacial Cleft Patients.
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- Genes, 2019, v. 10, n. 11, p. 836, doi. 10.3390/genes10110836
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- Publication type:
- Article
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1749, doi. 10.1002/humu.23787
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- Article
Front Cover, Volume 40, Issue 8.
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- Human Mutation, 2019, v. 40, n. 8, p. i, doi. 10.1002/humu.23892
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- Publication type:
- Article
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.
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- Human Mutation, 2019, v. 40, n. 8, p. 1030, doi. 10.1002/humu.23798
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- Publication type:
- Article
Exome sequencing in patients with chronic central serous chorioretinopathy.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43152-3
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- Article
Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression.
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- Human Genetics, 2018, v. 137, n. 9, p. 717, doi. 10.1007/s00439-018-1925-9
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- Publication type:
- Article
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
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- Publication type:
- Article
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.
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- Human Mutation, 2017, v. 38, n. 11, p. 1454, doi. 10.1002/humu.23313
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- Publication type:
- Article
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312
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- Publication type:
- Article
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
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- Human Mutation, 2017, v. 38, n. 5, p. 594, doi. 10.1002/humu.23176
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- Publication type:
- Article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
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- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
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- Publication type:
- Article
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0386-9
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- Publication type:
- Article
Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0165582
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- Publication type:
- Article
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
- Published in:
- Bioinformatics, 2016, v. 32, n. 19, p. 3018, doi. 10.1093/bioinformatics/btw359
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- Publication type:
- Article
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
- Published in:
- 2016
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- Publication type:
- journal article
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 144, doi. 10.1159/000446884
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- Publication type:
- Article
Novel bioinformatic developments for exome sequencing.
- Published in:
- Human Genetics, 2016, v. 135, n. 6, p. 603, doi. 10.1007/s00439-016-1658-6
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- Publication type:
- Article
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11600, doi. 10.1038/ncomms11600
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- Publication type:
- Article
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 24843, doi. 10.1038/srep24843
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- Publication type:
- Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
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- Publication type:
- Article
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005880
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- Publication type:
- Article
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 546, doi. 10.1093/hmg/ddv495
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- Publication type:
- Article