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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Forlanini Federica et al. Journal of clinical immunology 2022
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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink Kim et al. Frontiers in immunology 2022 12780134
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Impact of the J Project on progress of primary immunodeficiency care in Ukraine.
Volokha Alla et al. Central-European journal of immunology 2021 46(2) 250-257
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Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht Clair et al. Frontiers in immunology 2021 12665621
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Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.
Yadav Reetika Malik et al. Frontiers in immunology 2020 11612316
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The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.
Qureshi Sonia et al. The World Allergy Organization journal 2020 Jul 13(7) 100133
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Molecular Diagnosis of Inherited Immune Disorders.
Farmer Jocelyn R et al. Clinics in laboratory medicine 2019 39(4) 685-697
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Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon Narissara et al. Frontiers in immunology 2020 11614
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Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
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Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.
Abolhassani Hassan et al. Journal of clinical immunology 2018 38(7) 816-832
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The Next Generation of Diagnostic Tests for Primary Immunodeficiency Disorders.
French Martyn A et al. The Journal of infectious diseases 2019 Jul
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From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.
Ochs Hans D et al. American journal of medical genetics. Part A 2018 Apr 176(4) 784-803
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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz Waleed et al. Frontiers in immunology 2018 93146
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Genomics of Primary Immunodeficiency Disorders: It is scientifically important and it is personal
Mutation Watch, December 30, 2018
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140
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Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Li Ran et al. BioMed research international 2018 20183724630
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Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China.
Xia Yu et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Aug
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Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients.
Karaca Neslihan Edeer et al. International journal of immunopathology and pharmacology 322058738418779458
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The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin Atil et al. BioMed research international 2018 20189647253
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High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.
Al-Mousa Hamoud et al. Frontiers in immunology 2018 9782
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Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
El Hawary Rabab E et al. Molecular diagnosis & therapy 2017 Sep
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Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon See-Tarn et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2016 1265
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Gene therapy for primary immunodeficiencies.
Fischer A et al. Clin. Genet. 2015 Feb 24.
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The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years' activity 2008-2014.
Marschall Karin et al. Clin. Exp. Immunol. 2015 Jun 1.
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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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