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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: May 03, 2024
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Personalized Medicine and Obstructive Sleep Apnea
SQ Quy et al, J Per Med, December 2022
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Robinson Jamie R et al. Obesity (Silver Spring, Md.) 2022
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Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.
Birnbaum Rebecca et al. JAMA psychiatry 2022 79(3) 250-259
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Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806
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Obstructive Sleep Apnea and Dementia-Common Gene Associations through Network-Based Identification of Common Driver Genes.
Jeong Hyun-Hwan et al. Genes 2021 12(4)
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Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.
Veatch Olivia J et al. BMC medical genomics 2020 Jul 13(1) 105
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How Will Genetics Inform the Clinical Care of Atrial Fibrillation?
Shoemaker M Benjamin et al. Circulation research 2020 Jun 127(1) 111-127
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Clinical Practice Guidelines for Achondroplasia.
Kubota Takuo et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020 29(1) 25-42
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Sleep and Memory: The Promise of Precision Medicine.
Carter Patricia et al. Sleep medicine clinics 2019 Sep 14(3) 371-378
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Precision Medicine for Obstructive Sleep Apnea.
Light Matthew et al. Sleep medicine clinics 2019 Sep 14(3) 391-398
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Characterization of Genetic and Phenotypic Heterogeneity of Obstructive Sleep Apnea Using Electronic Health Records
OJ Veatch et al, BioRXIV preprints, August 5, 2019
CLINGEN Actionability Report for Marfan Syndrome - FBN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Charcot - Marie - Tooth Disease, Type 1 - PMP22, MPZ, LITAF, EGR2, NEFL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Primary pulmonary hypertension 1- BMPR2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA
ClinGen Actionability Working Group
Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank.
Dashti Hassan S et al. Sleep 2018 Dec
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Clinical and Experimental Human Sleep-Wake Pharmacogenetics.
Landolt Hans-Peter et al. Handbook of experimental pharmacology 2018 Nov
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New supplemental awards boost NIH funding for research on Down syndrome
NIH, October 1, 2018
The Use of Precision Medicine to Manage Obstructive Sleep Apnea Treatment in Patients with Resistant Hypertension: Current Evidence and Future Directions.
Sapiña Esther et al. Current hypertension reports 2018 Jun 20(7) 60
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Fragile X syndrome: an overview and update of the FMR1 gene.
Mila Montserrat et al. Clinical genetics 2017 Jun
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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
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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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