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Target selection for Danio rerio functional genomics.
- Published in:
- Genesis: The Journal of Genetics & Development, 2001, v. 30, n. 3, p. 123, doi. 10.1002/gene.1045
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- Publication type:
- Article
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165
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- Publication type:
- Article
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931
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- Publication type:
- Article
Impact of sample acquisition and linear amplification on gene expression profiling of lung adenocarcinoma: laser capture micro-dissection cell-sampling versus bulk tissue-sampling.
- Published in:
- BMC Medical Genomics, 2009, v. 2, p. 1, doi. 10.1186/1755-8794-2-13
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- Publication type:
- Article
HELLO: improved neural network architectures and methodologies for small variant calling.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04311-4
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- Publication type:
- Article
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/9184265
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- Publication type:
- Article
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
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- Publication type:
- Article
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812
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- Publication type:
- Article
COVID-19 mortality prediction from deep learning in a large multistate EHR and LIS dataset: algorithm development and validation.
- Published in:
- 2021
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- Publication type:
- journal article
Zebrafish for the Study of the Biological Effects of Nicotine.
- Published in:
- Nicotine & Tobacco Research, 2011, v. 13, n. 5, p. 301, doi. 10.1093/ntr/ntr010
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- Publication type:
- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
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- Publication type:
- Article
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer.
- Published in:
- BMC Genomics, 2009, v. 10, p. 531, doi. 10.1186/1471-2164-10-531
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- Publication type:
- Article
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA -Associated Cardiocutaneous Progeria Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 112, doi. 10.3390/genes15010112
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- Publication type:
- Article
Impact of RNA degradation on fusion detection by RNA-seq.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3161-9
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- Publication type:
- Article
Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004135
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- Publication type:
- Article
Comparative analysis of de novo assemblers for variation discovery in personal genomes.
- Published in:
- Briefings in Bioinformatics, 2018, v. 19, n. 5, p. 893, doi. 10.1093/bib/bbx037
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- Publication type:
- Article
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
- Published in:
- 2021
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- Publication type:
- Letter
Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.
- Published in:
- 2020
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- Publication type:
- Letter
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.739054
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- Publication type:
- Article
Implementing individualized medicine into the medical practice.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 15, doi. 10.1002/ajmg.c.31387
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- Publication type:
- Article
Expanding the phenotype of DNAJC30‐associated Leigh syndrome.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 438, doi. 10.1111/cge.14196
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- Publication type:
- Article
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 986, doi. 10.1007/s10875-022-01217-5
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- Publication type:
- Article
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.
- Published in:
- 2020
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- Publication type:
- Letter
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
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- Publication type:
- Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
- Published in:
- 2019
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- Publication type:
- journal article
Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells.
- Published in:
- Evidence-based Complementary & Alternative Medicine (eCAM), 2012, v. 2012, p. 1, doi. 10.1155/2012/303019
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- Publication type:
- Article
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01159-y
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- Publication type:
- Article
Evaluating eukaryotic secreted protein prediction.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 256, doi. 10.1186/1471-2105-6-256
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- Publication type:
- Article
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
- Published in:
- Cardiovascular Drugs & Therapy, 2021, v. 35, n. 3, p. 549, doi. 10.1007/s10557-020-06988-w
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- Publication type:
- Article
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
- Published in:
- Bioinformatics, 2020, v. 36, n. 17, p. 4609, doi. 10.1093/bioinformatics/btaa259
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- Publication type:
- Article
Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
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- Child Neurology Open, 2020, p. 1, doi. 10.1177/2329048X20955003
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- Publication type:
- Article
Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20955003
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- Publication type:
- Article
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 4, p. 632, doi. 10.1002/ccr3.2010
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- Publication type:
- Article
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
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- Publication type:
- Article
Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090467
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- Publication type:
- Article
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03213-x
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- Publication type:
- Article
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 5, p. e316, doi. 10.1111/bjh.16897
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- Publication type:
- Article
Serum Concentrations of Prostate-Specific Antigen Measured Using Immune Extraction, Trypsin Digestion, and Tandem Mass Spectrometry Quantification of LSEPAELTDAVK Peptide.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2014, v. 138, n. 10, p. 1381, doi. 10.5858/arpa.2013-0462-OA
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- Publication type:
- Article
Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.
- Published in:
- 2022
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- Publication type:
- Editorial
Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers.
- Published in:
- Proteins, 2019, v. 87, n. 11, p. 904, doi. 10.1002/prot.25752
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- Publication type:
- Article
Immunological and mass spectrometric assays of SHBG: consistent and inconsistent metabolic associations in healthy men.
- Published in:
- 2014
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- Publication type:
- journal article
Luminal androgen receptor breast cancer subtype and investigation of the microenvironment and neoadjuvant chemotherapy response.
- Published in:
- NAR Cancer, 2022, v. 4, n. 2, p. 1, doi. 10.1093/narcan/zcac018
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- Publication type:
- Article
Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.
- Published in:
- BMC Rheumatology, 2022, v. 6, n. 1, p. 1, doi. 10.1186/s41927-022-00281-z
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- Publication type:
- Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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- Publication type:
- Article
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78653
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- Publication type:
- Article
Epigenetic alteration contributes to the transcriptional reprogramming in T-cell prolymphocytic leukemia.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87890-9
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- Publication type:
- Article
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170822
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- Publication type:
- Article
Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing.
- Published in:
- Cancer Cytopathology, 2014, v. 122, n. 11, p. 822, doi. 10.1002/cncy.21464
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- Publication type:
- Article