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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 02, 2024
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Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai Pratibha et al. Current oncology (Toronto, Ont.) 2022 29(10) 7209-7217
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Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.
Soares Célia Azevedo et al. JBRA assisted reproduction 2022
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Mutational landscape of chronic myeloid leukemia: more than a single oncogene leukemia.
Adnan-Awad Shady et al. Leukemia & lymphoma 2021 1-15
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Next-generation sequencing for BCR-ABL1 kinase domain mutation testing in patients with chronic myeloid leukemia: a position paper.
Soverini Simona et al. Journal of hematology & oncology 2019 12(1) 131
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Clinical utility of genomic DNA Q-PCR for the monitoring of a patient with atypical e19a2 BCR-ABL1 transcripts in chronic myeloid leukemia.
Pagani Ilaria S et al. Leukemia & lymphoma 2020 Jun 1-3
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Why Aren't Cancer Drugs Better? The Targets Might Be Wrong
C Zimmer, NY Times, September 13, 2019
Recommendations from a Portuguese Expert Group for Discontinuation of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia Patients in Clinical Practice.
Almeida Antonio et al. Acta medica portuguesa 2019 Aug 32(7-8) 550-557
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Local Coverage Determination (LCD): Genomic Sequence Analysis Panels in the Treatment of Hematolymphoid Diseases (L37606)
The U.S. Centers for Medicare & Medicaid Services
Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies.
Kim Borahm et al. The Journal of molecular diagnostics : JMD 2018 Oct
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Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration
SM Boca et al, JCO Precision Oncology, September 2018
Chronic Myeloid Leukemia, Version 1.2019, NCCN Clinical Practice Guidelines in Oncology.
Radich Jerald P et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Sep 16(9) 1108-1135
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Molecular biology as a tool for the treatment of cancer.
de Castro Sant' Anna Carla et al. Clinical and experimental medicine 2018 Jul
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Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high risk disease.
Branford Susan et al. Blood 2018 Jul
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Identification of Prognostic and Susceptibility Markers in Chronic Myeloid Leukemia Using Next Generation Sequencing.
Shokeen Yogender et al. Ethiopian journal of health sciences 2018 Mar 28(2) 135-146
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Pharmacogenetics and the treatment of chronic myeloid leukemia: how relevant clinically? An update.
Ankathil Ravindran et al. Pharmacogenomics 2018 Mar
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Impact of SLC22A1 and CYP3A5 genotypes on imatinib response in chronic myeloid leukemia: a systematic review and meta-analysis.
Cargnin Sarah et al. Pharmacological research 2018 Feb
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TP53 codon 72 polymorphism predicts chronic myeloid leukemia susceptibility and treatment outcome.
Weich Natalia et al. Blood cells, molecules & diseases 2016 Jul 59129-33
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Telomeres and Telomerase in Hematopoietic Dysfunction: Prognostic Implications and Pharmacological Interventions.
Vasko Theresa et al. International journal of molecular sciences 2017 Oct 18(11)
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Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia: The experience of the International Registry for Chronic Myeloid Leukemia in Children and Adolescents.
Millot Frédéric et al. Cancer 2017 Sep 123(18) 3609-3616
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Conversion, Correction, and International Scale Standardization: Results From a Multicenter External Quality Assessment Study for BCR-ABL1 Testing.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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