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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 25, 2024
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Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
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Evaluation of HLA-B*05, *07, *08, *27 and *51 Allele Expression in Adults with Immune Thrombocytopenic Purpura.
Niloofar Yazdani Rad et al. Maedica (Bucur) 2023 18(1) 61-66
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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi Caterina et al. Haematologica 2022
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Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.
Magar Suvarna et al. Cureus 2022 14(10) e29868
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Comparative risk of thrombosis with thrombocytopenia syndrome or thromboembolic events associated with different covid-19 vaccines: international network cohort study from five European countries and the US.
Li Xintong et al. BMJ (Clinical research ed.) 2022 379e071594
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Safety of heterologous primary and booster schedules with ChAdOx1-S and BNT162b2 or mRNA-1273 vaccines: nationwide cohort study.
Andersson Niklas Worm et al. BMJ (Clinical research ed.) 2022 378e070483
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Noninvasive Prenatal Testing in Immunohematology-Clinical, Technical and Ethical Considerations.
Kjeldsen-Kragh Jens et al. Journal of clinical medicine 2022 11(10)
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Genetics of Inherited thrombocytopenias.
Warren Julia T et al. Blood 2022
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Temozolomide-induced myelotoxicity and single nucleotide polymorphisms in the MGMT gene in patients with adult diffuse glioma: a single-institutional pharmacogenetic study.
Moitra Prithwijit et al. Journal of neuro-oncology 2022
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Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Goyal Manisha et al. Annals of Indian Academy of Neurology 2022 24(5) 686-692
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Case Series of Thrombosis with Thrombocytopenia Syndrome following COVID-19 vaccination--United States, December 2020-August 2021
I See et al, MEDRXIV, November 14, 2021
Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.
Somasegar Sahana et al. Gynecologic oncology 2021
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Safety of the BNT162b2 mRNA Covid-19 Vaccine in a Nationwide Setting.
Barda Noam et al. The New England journal of medicine 2021
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Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021
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Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.
Nissan Ella et al. The Journal of pediatrics 2021
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Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life.
Mallhi Kanwaldeep K et al. Journal of blood medicine 2021 12435-447
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Thrombosis After Vaccination With Messenger RNA–1273: Is This Vaccine-Induced Thrombosis and Thrombocytopenia or Thrombosis With Thrombocytopenia Syndrome?
AM Pishko et al, Ann Int Med, June 29, 2021
Thrombosis With Thrombocytopenia After the Messenger RNA–1273 Vaccine
S Sangli et al, Ann Int Med, June 29, 2021
Evolving Role of Pharmacogenetic Biomarkers to Predict Drug-Induced Hematological Disorders.
Pattanaik Smita et al. Therapeutic drug monitoring 2020 Nov
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[Analysis of gene mutations and clinic features in 108 patients with myeloproliferative neoplasm].
Tan Y X et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2020 Jul 41(7) 576-582
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Patient Experience with Congenital (Hereditary) Thrombotic Thrombocytopenic Purpura: A Conceptual Framework of Symptoms and Impacts.
Oladapo Abiola O et al. The patient 2019 12(5) 503-512
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Inherited thrombocytopenias: history, advances and perspectives.
Nurden Alan T et al. Haematologica 2020 Jun
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Preimplantation genetic testing for a monogenic disorder can prevent live births affected by fetal and neonatal alloimmune thrombocytopenia.
Shaw Jacquelyn et al. Pediatric blood & cancer 2020 Apr e28239
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Genetic screening of children with suspected inherited bleeding disorders.
Andersson Nadine G et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Feb
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Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61
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PARP Inhibitors Show Promise as Initial Treatment for Ovarian Cancer
NCI, October 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants.
Bury Loredana et al. Human mutation 2019 Sep
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[Genetic screening in early diagnosis of neonatal WAS gene-related disorders].
Liu X et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Jun 57(6) 429-433
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Local Coverage Determination (LCD): Flow Cytometry (L33661)
The U.S. Centers for Medicare & Medicaid Services
Local Coverage Determination (LCD): Genomic Sequence Analysis Panels in the Treatment of Hematolymphoid Diseases (L37606)
The U.S. Centers for Medicare & Medicaid Services
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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