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A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 24, p. 3179, doi. 10.3390/healthcare11243179
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- Publication type:
- Article
'Poor' publications penalise postdoc careers.
- Published in:
- 2003
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- Publication type:
- Letter
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.
- Published in:
- Scientific Reports, 2015, p. 10042, doi. 10.1038/srep10042
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- Publication type:
- Article
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38588-1
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- Publication type:
- Article
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1854-0
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- Publication type:
- Article
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 666, doi. 10.1186/s12864-015-1854-0
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- Publication type:
- Article
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
- Published in:
- Neurogenetics, 2017, v. 18, n. 2, p. 111, doi. 10.1007/s10048-017-0510-z
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- Publication type:
- Article
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-38760-y
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- Publication type:
- Article
Composite likelihood-based meta-analysis of breast cancer association studies.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 5, p. 377, doi. 10.1038/jhg.2011.23
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
- Published in:
- 2018
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- Publication type:
- journal article
A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1582, doi. 10.3390/genes14081582
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- Publication type:
- Article
Genome-wide association of breast cancer: composite likelihood with imputed genotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 194, doi. 10.1038/ejhg.2010.157
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- Publication type:
- Article
Support for the involvement of complement factor I in age-related macular degeneration.
- Published in:
- 2010
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- Publication type:
- Letter
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 253, doi. 10.1038/sj.ejhg.5201510
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- Publication type:
- Article
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 154, doi. 10.1038/sj.ejhg.5201311
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- Publication type:
- Article
Stability and haplotype analysis of the FRAXE region.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200504
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- Publication type:
- Article
Reproductive and menstrual history of females with fragile X expansions.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 247, doi. 10.1038/sj.ejhg.5200451
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- Publication type:
- Article
Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD).
- Published in:
- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 7, p. e603, doi. 10.1111/j.1755-3768.2010.01986.x
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- Publication type:
- Article
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 6, p. 961, doi. 10.1093/ndt/gfv325
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- Publication type:
- Article
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data.
- Published in:
- Scientific Data, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41597-019-0227-y
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- Publication type:
- Article
Sequencing era methods for identifying signatures of selection in the genome.
- Published in:
- Briefings in Bioinformatics, 2019, v. 20, n. 6, p. 1997, doi. 10.1093/bib/bby064
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- Publication type:
- Article
Exome sequence read depth methods for identifying copy number changes.
- Published in:
- Briefings in Bioinformatics, 2015, v. 16, n. 3, p. 380, doi. 10.1093/bib/bbu027
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- Publication type:
- Article
Allelic association and disease mapping.
- Published in:
- Briefings in Bioinformatics, 2001, v. 2, n. 4, p. 63, doi. 10.1093/bib/2.4.375
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- Publication type:
- Article
Review article: the genetics of the human leucocyte antigen region in inflammatory bowel disease.
- Published in:
- Alimentary Pharmacology & Therapeutics, 2019, v. 50, n. 8, p. 885, doi. 10.1111/apt.15485
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- Publication type:
- Article
Increased prevalence of anti‐TNF therapy in paediatric inflammatory bowel disease is associated with a decline in surgical resections during childhood.
- Published in:
- Alimentary Pharmacology & Therapeutics, 2019, v. 49, n. 4, p. 398, doi. 10.1111/apt.15094
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- Publication type:
- Article
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 214, doi. 10.1111/cge.14235
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- Publication type:
- Article
TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.
- Published in:
- 2020
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- Publication type:
- Letter
Automated data cleaning of paediatric anthropometric data from longitudinal electronic health records: protocol and application to a large patient cohort.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66925-7
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- Publication type:
- Article
Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-60215-y
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- Publication type:
- Article
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49368-7
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- Publication type:
- Article
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46906-1
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- Publication type:
- Article
Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086940
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- Publication type:
- Article
Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083244
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- Publication type:
- Article
Support Vector Machine Classifier for Estrogen Receptor Positive and Negative Early-Onset Breast Cancer.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068606
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- Publication type:
- Article
Growth failure is rare in a contemporary cohort of paediatric inflammatory bowel disease patients.
- Published in:
- Acta Paediatrica, 2021, v. 110, n. 1, p. 326, doi. 10.1111/apa.15383
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- Publication type:
- Article
CCPlotR: an R package for the visualization of cell–cell interactions.
- Published in:
- Bioinformatics Advances, 2023, v. 3, n. 1, p. 1, doi. 10.1093/bioadv/vbad130
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- Publication type:
- Article
Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.
- Published in:
- Human Genetics, 2013, v. 132, n. 2, p. 233, doi. 10.1007/s00439-012-1243-6
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- Publication type:
- Article
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
- Published in:
- Scientific Reports, 2017, p. 46454, doi. 10.1038/srep46454
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- Publication type:
- Article
Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.
- Published in:
- Scientific Reports, 2016, p. 34658, doi. 10.1038/srep34658
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- Publication type:
- Article
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
- Published in:
- Scientific Reports, 2016, p. 30457, doi. 10.1038/srep30457
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- Publication type:
- Article
Supervised Machine Learning Classifies Inflammatory Bowel Disease Patients by Subtype Using Whole Exome Sequencing Data.
- Published in:
- Journal of Crohn's & Colitis, 2023, v. 17, n. 10, p. 1672, doi. 10.1093/ecco-jcc/jjad084
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- Publication type:
- Article
NOD2 in Crohn's Disease—Unfinished Business.
- Published in:
- Journal of Crohn's & Colitis, 2023, v. 17, n. 3, p. 450, doi. 10.1093/ecco-jcc/jjac124
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- Publication type:
- Article
Ileal Transcriptomic Analysis in Paediatric Crohn's Disease Reveals IL17- and NOD-signalling Expression Signatures in Treatment-naïve Patients and Identifies Epithelial Cells Driving Differentially Expressed Genes.
- Published in:
- Journal of Crohn's & Colitis, 2021, v. 15, n. 5, p. 774, doi. 10.1093/ecco-jcc/jjaa236
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- Publication type:
- Article
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00275-9
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- Publication type:
- Article
Vera Lopez: Complicated Lives: Girls, Parents, Drugs, and Juvenile Justice: New Brunswick, Camden, Newark, NJ, Rutgers University Press, 2017, 240pp, ISBN 9780813586571.
- Published in:
- 2020
- By:
- Publication type:
- Book Review
Expression profile of the matricellular protein periostin in paediatric inflammatory bowel disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85096-7
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- Publication type:
- Article
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-016-0394-9
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- Publication type:
- Article
Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.
- Published in:
- 2015
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- Publication type:
- Correction Notice
A SNP profiling panel for sample tracking in whole-exome sequencing studies.
- Published in:
- Genome Medicine, 2013, v. 5, n. 9, p. 89, doi. 10.1186/gm492
- By:
- Publication type:
- Article
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 61, doi. 10.1002/humu.1150
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- Publication type:
- Article