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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01234-2
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- Article
A database on differentially expressed microRNAs during rodent bladder healing.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01413-0
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- Article
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.708348
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- Article
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
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- EMBO Molecular Medicine, 2024, v. 16, n. 3, p. 596, doi. 10.1038/s44321-024-00035-z
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- Article
Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9392, doi. 10.3390/ijms23169392
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- Article
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
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- PLoS Genetics, 2019, v. 15, n. 2, p. 1, doi. 10.1371/journal.pgen.1007858
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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
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- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007780
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- Article
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
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- Human Genetics, 2021, v. 140, n. 5, p. 775, doi. 10.1007/s00439-020-02242-3
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- Article
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
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- Frontiers in Oncology, 2023, p. 01, doi. 10.3389/fonc.2023.1217712
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- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Article
Transposable element insertions in 1000 Swedish individuals.
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- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289346
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- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Article
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1143, doi. 10.1002/ajmg.a.61539
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- Article
Long-read whole-genome analysis of human single cells.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40898-3
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- Article
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.
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- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0245488
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- Article
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01020-2
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- Article
Discovery of Novel Sequences in 1,000 Swedish Genomes.
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- Molecular Biology & Evolution, 2020, v. 37, n. 1, p. 18, doi. 10.1093/molbev/msz176
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- Article
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
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- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228622
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- Article
Loqusdb: added value of an observations database of local genomic variation.
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- BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-03609-z
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- Article
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.
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- BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-3451-8
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- Article
Genomic profile – a possible diagnostic and prognostic marker in upper tract urothelial carcinoma.
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- BJU International, 2022, v. 130, n. 1, p. 92, doi. 10.1111/bju.15566
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- Article
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.803683
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- Article
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation.
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- Human Mutation, 2022, v. 43, n. 11, p. 1567, doi. 10.1002/humu.24440
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- Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
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- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
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- Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605
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- Article
Targeted copy number screening highlights an intragenic deletion of <italic>WDR63</italic> as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
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- Human Mutation, 2018, v. 39, n. 4, p. 495, doi. 10.1002/humu.23388
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Case report: Extending the spectrumof clinical andmolecular ?ndings in FOXC1 haploinsufficiency syndrome.
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- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1174046
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- Article
Discovery of non-reference processed pseudogenes in the Swedish population.
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- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1176626
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- Article
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 776, doi. 10.1002/jbmr.3083
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Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.
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- JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10660
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- Article
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59683-3
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- Article
Insights into cellular behavior and micromolecular communication in urothelial micrografts.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40049-0
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- Article
Insights into cellular behavior and micromolecular communication in urothelial micrografts.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40049-0
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- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
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- Article
AMYCNE: Confident copy number assessment using whole genome sequencing data.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0189710
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- Article