Found: 40
Select item for more details and to access through your institution.
Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
- By:
- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
- By:
- Publication type:
- Article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
- By:
- Publication type:
- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
- By:
- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
- By:
- Publication type:
- Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
- By:
- Publication type:
- Article
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01150
- By:
- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
- By:
- Publication type:
- Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 717, doi. 10.1038/ng.3304
- By:
- Publication type:
- Article
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sequencing of human genomes with nanopore technology.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09637-5
- By:
- Publication type:
- Article
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
- By:
- Publication type:
- Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
- By:
- Publication type:
- Article
A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.
- Published in:
- Bioinformatics, 2021, v. 37, n. 2, p. 147, doi. 10.1093/bioinformatics/btaa672
- By:
- Publication type:
- Article
MichelaNglo: sculpting protein views on web pages without coding.
- Published in:
- Bioinformatics, 2020, v. 36, n. 10, p. 3268, doi. 10.1093/bioinformatics/btaa104
- By:
- Publication type:
- Article
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
- By:
- Publication type:
- Article
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
- By:
- Publication type:
- Article
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
- Published in:
- Journal of Pathology, 2018, v. 245, n. 3, p. 283, doi. 10.1002/path.5081
- By:
- Publication type:
- Article
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 3, p. 412, doi. 10.1111/bjh.15406
- By:
- Publication type:
- Article
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
- Published in:
- Journal of Crohn's & Colitis, 2020, v. 14, n. 1, p. 142, doi. 10.1093/ecco-jcc/jjz112
- By:
- Publication type:
- Article
Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A high throughput screen for active human transposable elements.
- Published in:
- BMC Genomics, 2018, v. 19, p. 1, doi. 10.1186/s12864-018-4485-4
- By:
- Publication type:
- Article
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85354-8
- By:
- Publication type:
- Article
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 5, p. 2522, doi. 10.1093/nar/gkac130
- By:
- Publication type:
- Article
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162809
- By:
- Publication type:
- Article
Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.
- Published in:
- Bioinformatics, 2017, v. 33, n. 19, p. 3058, doi. 10.1093/bioinformatics/btx355
- By:
- Publication type:
- Article
ReliableGenome: annotation of genomic regions with high/low variant calling concordance.
- Published in:
- Bioinformatics, 2017, v. 33, n. 2, p. 155, doi. 10.1093/bioinformatics/btw587
- By:
- Publication type:
- Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
- By:
- Publication type:
- Article
An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.
- Published in:
- Cancers, 2021, v. 13, n. 7, p. 1497, doi. 10.3390/cancers13071497
- By:
- Publication type:
- Article
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
- Published in:
- Cancers, 2019, v. 11, n. 12, p. 1895, doi. 10.3390/cancers11121895
- By:
- Publication type:
- Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
- By:
- Publication type:
- Article
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/6633248
- By:
- Publication type:
- Article
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 822, doi. 10.1002/humu.23420
- By:
- Publication type:
- Article
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0030-7
- By:
- Publication type:
- Article
A point mutation in the ion conduction pore of AMP A receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 20, p. 3869, doi. 10.1093/hmg/ddx270
- By:
- Publication type:
- Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3732, doi. 10.1093/hmg/ddv117
- By:
- Publication type:
- Article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
- By:
- Publication type:
- Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
- By:
- Publication type:
- Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
- By:
- Publication type:
- Article