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Evaluation of Mass Cytometry in the Clinical Laboratory.
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- Cytometry. Part B, 2019, v. 96, n. 4, p. 266, doi. 10.1002/cyto.b.21791
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- Article
Mycobacterium chelonae-abscessus Complex Associated with Sinopulmonary Disease, Northeastern USA.
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- Emerging Infectious Diseases, 2011, v. 17, n. 9, p. 1692, doi. 10.3201/eid1709.101667
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- Article
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-02977-8
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- Article
Translating exome sequencing from research to clinical diagnostics.
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- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 7, p. 1161, doi. 10.1515/cclm-2011-0841
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- Article
VarBin, a novel method for classifying true and false positive variants in NGS data.
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- BMC Bioinformatics, 2013, v. 14, n. Suppl 13, p. 1, doi. 10.1186/1471-2105-14-S13-S2
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- Article
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
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- Nature Biotechnology, 2015, v. 33, n. 7, p. 689, doi. 10.1038/nbt.3237
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- Article
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
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- Nature Biotechnology, 2014, v. 32, n. 7, p. 663, doi. 10.1038/nbt.2895
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- Article
Assuring the quality of next-generation sequencing in clinical laboratory practice.
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- Nature Biotechnology, 2012, v. 30, n. 11, p. 1033, doi. 10.1038/nbt.2403
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- Article
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
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- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18789282
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- Article
Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys.
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- Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 137, doi. 10.5858/arpa.2021-0384-CP
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- Article
Tiered Somatic Variant Classification Adoption Has Increased Worldwide With Some Practice Differences Based on Location and Institutional Setting: A Study From the College of American Pathologists Molecular Oncology Committee.
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- Archives of Pathology & Laboratory Medicine, 2022, v. 146, n. 7, p. 822, doi. 10.5858/arpa.2021-0179-CP
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- Article
A Primer on Chimeric Antigen Receptor T-cell Therapy: What Does It Mean for Pathologists?
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- Archives of Pathology & Laboratory Medicine, 2021, v. 145, n. 6, p. 704, doi. 10.5858/arpa.2019-0632-CP
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- Article
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
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- Archives of Pathology & Laboratory Medicine, 2017, v. 141, n. 6, p. 798, doi. 10.5858/arpa.2016-0622-RA
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- Article
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
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- Archives of Pathology & Laboratory Medicine, 2017, v. 141, n. 6, p. 787, doi. 10.5858/arpa.2016-0517-RA
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- Article
A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.
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- Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 10, p. 1085, doi. 10.5858/arpa.2016-0194-CP
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- Article
Design of a Genomics Curriculum.
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- Archives of Pathology & Laboratory Medicine, 2015, v. 139, n. 7, p. 894, doi. 10.5858/arpa.2014-0253-CP
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- Article
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests.
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- Archives of Pathology & Laboratory Medicine, 2015, v. 139, n. 4, p. 481, doi. 10.5858/arpa.2014-0250-CP
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- Article
Developing Genome and Exome Sequencing for Candidate Gene Identification in Inherited Disorders.
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- Archives of Pathology & Laboratory Medicine, 2013, v. 137, n. 3, p. 415, doi. 10.5858/arpa.2012-0107-RA
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- Article
Frontline Science: Cxxc5 expression alters cell cycle and myeloid differentiation of mouse hematopoietic stem and progenitor cells.
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- Journal of Leukocyte Biology, 2020, v. 108, n. 2, p. 469, doi. 10.1002/JLB.1HI0120-169R
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- Article
Variant Identification in Multi-Sample Pools by Illumina Genome Analyzer Sequencing.
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- Journal of Biomolecular Techniques, 2011, v. 22, n. 2, p. 74
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- Article
Multi-Sample Pooling and Illumina Genome Analyzer Sequencing Methods to Determine Gene Sequence Variation for Database Development.
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- Journal of Biomolecular Techniques, 2010, v. 21, n. 3, p. 126
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- Article
Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for Resequencing of Hypertrophic Cardiomyopathy-Associated Genes.
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- Journal of Biomolecular Techniques, 2010, v. 21, n. 2, p. 73
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- Article
Digital Fetal Aneuploidy Diagnosis by Next-Generation Sequencing.
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- Clinical Chemistry, 2010, v. 56, n. 3, p. 336, doi. 10.1373/clinchem.2009.141267
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- Article
Management of chronic myeloid leukemia during pregnancy with leukapheresis.
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- Journal of Clinical Apheresis, 1999, v. 14, n. 1, p. 42, doi. 10.1002/(SICI)1098-1101(1999)14:1<42::AID-JCA8>3.0.CO;2-2
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- Article
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.
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- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0969-1
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- Article
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 17, doi. 10.1002/ajmg.a.36189
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- Article