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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 03, 2024
. (Total: 63769 Documents since 2012)
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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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Spleen size in homozygous sickle cell disease: TRENDS in a birth cohort using ultrasound.
Walker Thomas M et al. The British journal of radiology 2022 20220634
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Stroke Prevention with Hydroxyurea Enabled through Research and Education (SPHERE): a Phase 2 primary stroke prevention trial in sub-Saharan Africa.
Smart Luke R et al. Acta haematologica 2022
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A study of spectrum of sickle cell anemia and thalassemia in a teaching institute of South India.
Sabitha Rani S S et al. Nigerian journal of clinical practice 2022 25(4) 490-495
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Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis.
Lazarova Elena et al. Journal of clinical laboratory analysis 2022 e24248
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Manifestations of HbSE sickle cell disease: a systematic review.
Khamees Ibrahim et al. Journal of translational medicine 2021 19(1) 262
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Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik Pawel et al. International journal of molecular sciences 2021 22(11)
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Newborn Screening Practices and Alpha-Thalassemia Detection - United States, 2016.
Bender M A et al. MMWR. Morbidity and mortality weekly report 2020 Sep 69(36) 1269-1272
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Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
Al Alawi Intisar et al. BMC nephrology 2020 Aug 21(1) 347
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Homozygous sickle cell disease in Central India & Jamaica: A comparison of newborn cohorts.
Jain Dipty et al. The Indian journal of medical research 2020 Apr 151(4) 326-332
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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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Local Coverage Determination (LCD): Genomic Sequence Analysis Panels in the Treatment of Hematolymphoid Diseases (L37606)
The U.S. Centers for Medicare & Medicaid Services
CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Gaucher Disease - GBA
ClinGen Actionability Working Group
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui Tiziano et al. Leukemia 2018 32(5) 1057-1069
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Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood.
Lin Henry C et al. Current pediatric reviews 2018 Nov
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Systematic review of progressive familial intrahepatic cholestasis.
Baker Alastair et al. Clinics and research in hepatology and gastroenterology 2018 Sep
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Fetal gene therapy for neurodegenerative disease of infants.
Massaro Giulia et al. Nature medicine 2018 Jul
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A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Lei Ke et al. Orphanet journal of rare diseases 2018 Apr 13(1) 48
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Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Yang Amy C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun 19(6) 652-658
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 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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