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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: Jun 21, 2024
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Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.
Susan E Matesanz et al. Neurol Clin Pract 2024 14(4) e200312
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High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Gloria K E Zodanu et al. Int J Mol Sci 2024 25(10)
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Robust airway microbiome signatures in acute respiratory failure and hospital-acquired pneumonia.
Emmanuel Montassier et al. Nat Med 2023
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Genomics and phenomics of body mass index reveals a complex disease network.
Huang Jie et al. Nature communications 2022 13(1) 7973
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Risk Variants in the Exomes of Children With Critical Illness.
Motelow Joshua E et al. JAMA network open 2022 5(10) e2239122
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Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.
Elbashir Haitham et al. Journal of neuromuscular diseases 2022
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Current Practices for Genetic Testing in Neonatal Extracorporeal Membrane Oxygenation: Findings from a National survey.
Wild K Taylor et al. Perfusion 2022 2676591221130178
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HLA and amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Nona R J et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2022 1-9
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HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure
JL Goldman et al, The PGX journal, February 2022
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras Basil T et al. The New England journal of medicine 2021 385(5) 427-435
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A molecular single-cell lung atlas of lethal COVID-19
JC Melms et al, Nature, April 29, 2021
HLA-A*11:01:01:01, HLA*C*12:02:02:01-HLA-B*52:01:02:02, age and sex are associated with severity of Japanese COVID-19 with respiratory failure
SS Khor et al, MEDRXIV, January 29, 2021
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.
Aschenbrenner Anna C et al. Genome medicine 2021 13(1) 7
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Host genetic effects in pneumonia.
Chen Hung-Hsin et al. American journal of human genetics 2020 Dec
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Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Luo Yue-Bei et al. Frontiers in neurology 2020 111014
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The major genetic risk factor for severe COVID-19 is inherited from Neanderthals.
Zeberg Hugo et al. Nature 2020 Sep
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Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
Duong Tina et al. Journal of neuromuscular diseases 2020 Sep
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Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller Timothy et al. The New England journal of medicine 2020 Jul 383(2) 109-119
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Cardiometabolic traits, sepsis and severe covid-19 with respiratory failure: a Mendelian randomization investigation
PJ Mark et al, MEDRXIV, June 20, 2020
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
D Ellinghaus et al, NEJM, June 17, 2020
The ABO blood group locus and a chromosome 3 gene cluster associate with SARS-CoV-2 respiratory failure in an Italian-Spanish genome-wide association analysis
D Ellinghaus et al, MEDRXIV, June 2, 2020
New Hope For Patients Living With Cystic Fibrosis After Scientists Unveil Therapy
NPR, November 1, 2019
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.
Tasca Giorgio et al. Neuromuscular disorders : NMD 2018 28(3) 268-276
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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Vidal-Folch Noemi et al. Clinical chemistry 2018 64(12) 1753-1761
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Translational research in pulmonary fibrosis.
Mathai Susan K et al. Translational research : the journal of laboratory and clinical medicine 2019 2091-13
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CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Thrombophilia due to protein C deficiency - PROC
ClinGen Actionability Working Group
CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Myofibrillar Myopathy -DES, BAG3, FLNC
ClinGen Actionability Working Group
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Page last reviewed:
Feb 1, 2024
Page last updated:
Jun 21, 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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