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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)
Last data update: May 03, 2024
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Records 1 - 29 (of 29 Records)
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Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9
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"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.
Karen M Bailey et al. Orphanet J Rare Dis 2023 18(1) 158
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Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests.
Guillaud Olivier et al. Diagnostics (Basel, Switzerland) 2023 13(2)
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Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia Siyu et al. Journal of clinical laboratory analysis 2022 e24735
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Epidemiology, treatment and burden of Wilson Disease in France: a 10-year analysis of the National Health Insurance Database.
Daniel-Robin Thomas et al. Clinics and research in hepatology and gastroenterology 2022 101992
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Efficacy of Different Diagnostic Test for Identifying Wilson's Disease.
Sonia Z F et al. Mymensingh medical journal : MMJ 2022 31(1) 117-123
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Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia Pascual et al. Journal of pediatric gastroenterology and nutrition 2021
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Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan.
Aaraj Sahira et al. Annals of transplantation 2021 26e932606
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Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós Carmen et al. JHEP reports : innovation in hepatology 2020 Aug 2(4) 100114
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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann Monica et al. JIMD reports 2020 Mar 52(1) 55-62
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Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.
Valentino Pamela L et al. Journal of pediatric gastroenterology and nutrition 2020 Jan
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Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003
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The Prevalence of Wilson disease. An Update.
Sandahl Thomas Damgaard et al. Hepatology (Baltimore, Md.) 2019 Aug
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Wilson disease.
Guindi Maha et al. Seminars in diagnostic pathology 2019 Jul
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Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M et al. Neurologia (Barcelona, Spain) 2019 May 34(4) 248-258
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CLINGEN Actionability Report for Wilson Disease - ATP7B
ClinGen Actionability Working Group
Wilson disease-treatment perspectives.
Litwin Tomasz et al. Annals of translational medicine 2019 Apr 7(Suppl 2) S68
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The dilemma to diagnose Wilson disease by genetic testing alone.
Stättermayer Albert Friedrich et al. European journal of clinical investigation 2019 Jun e13147
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Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
Chen Huey-Ling et al. The Journal of pediatrics 2018 Oct
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The global prevalence of Wilson disease from next-generation sequencing data.
Gao Jiali et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep
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Wilson disease.
Czlonkowska Anna et al. Nature reviews. Disease primers 2018 Sep 4(1) 21
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Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
Li Huamei et al. Medicine 2018 Jul 97(27) e11405
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Bylstra Yasmin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul
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Wilson Disease: Diagnosis, Treatment, and Follow-up.
Schilsky Michael L et al. Clinics in liver disease 2017 Nov 21(4) 755-767
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Salivary biomarkers and proteomics: future diagnostic and clinical utilities.
Castagnola M et al. Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 2017 Apr 37(2) 94-101
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Controversies and Variation in Diagnosing and Treating Children With Wilson Disease: Results of an International Survey.
Sturm Ekkehard et al. Journal of pediatric gastroenterology and nutrition 2016 Jul 63(1) 82-7
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Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence.
Kieffer Dorothy A et al. Liver research 2017 Sep 1(2) 121-130
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Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld Emily A et al. Clinics in liver disease 2017 Nov 21(4) 673-686
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Treatable inherited rare movement disorders.
Jinnah H A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep
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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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