Skip directly to search
Skip directly to A to Z list
Skip directly to navigation
Skip directly to page options
Skip directly to site content
Start of Search Controls
Search Form Controls
Search The CDC
submit
CDC A-Z Index
MENU
CDC A-Z
SEARCH
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
#
Search Form Controls
Search The CDC
submit
CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
About
Public Health Genomics Branch
PHGKB Weekly Horizon Scan
Genomics Precision Health Scan
Advanced Molecular Detection Clips
Non-Genomics Precision Health Scan
CDC-authored Publications Scan
Specialized PHGKB
Cancer PHGKB
Diabetes PHGKB
Economic Evaluation PHGKB
Environmental Health PHGKB
Family Health History PHGKB
Health Equity PHGKB
HLBS-PopOmics
Infectious Diseases PHGKB
Implementation Science PHGKB
Neurological Disorders PHGKB
Pharmacogenomics PHGKB
Primary Immune Deficiency Diseases PHGKB
Rare Diseases PHGKB
Reproductive and Child Health PHGKB
All Databases
COVID-19 GPH (47395)
CDC/NIH Web Information Database (32189)
CDC-Authored Genomics and Precision Health Publications Database (6062)
Precision Health Database (63767)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26823)
All of Us Reports and Publications Database (677)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226753)
Epigenetic Epidemiology Publications Database (22811)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 02, 2024
. (Total: 63767 Documents since 2012)
All
Cancer
Diabetes
Economic
Environmental
Equity
FHH
HLBS
ID
Implementation
ND
PGx
PI
Rare
RCH
dataset
All
GPH
Non-GPH
Filtered By
:
Select to fine-tune your search
Disease
Gene
Product Type
Category
Year
Previous
Records 1 - 26 (of 26 Records)
Query Trace:
Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosedthrough a population genomic screening program.
Kristen D Yu et al. Anesthesiology 2023
Similar articles in PubMed
Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
Luciano Frassanito et al. J Clin Med 2023 12(12)
Similar articles in PubMed
Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?
Thomas May et al. Family practice 2023
Similar articles in PubMed
Impact of a digital manual for guidance on malignant hyperthermia: patient education.
Rodrigues Gislene et al. Orphanet journal of rare diseases 2022 17(1) 265
Similar articles in PubMed
Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing.
van den Bersselaar Luuk R et al. Anesthesiology 2022
Similar articles in PubMed
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield Eden V et al. BMC medicine 2021 19(1) 199
Similar articles in PubMed
Secondary findings in 622 Turkish clinical exome sequencing data.
Arslan Ates Esra et al. Journal of human genetics 2021
Similar articles in PubMed
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe Kerstin et al. Scientific reports 2021 Feb 11(1) 3445
Similar articles in PubMed
Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.
Hopkins P M et al. Anaesthesia 2021 Jan
Similar articles in PubMed
Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety.
Baye Jordan F et al. Pharmacogenomics 2020 Oct
Similar articles in PubMed
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.
Yeh Huei-Ming et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2020 Sep
Similar articles in PubMed
Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records.
Douville Nicholas J et al. British journal of anaesthesia 2020 Sep
Similar articles in PubMed
A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Ibarra Moreno Carlos A et al. British journal of anaesthesia 2020 Aug
Similar articles in PubMed
The current status of malignant hyperthermia.
Yang Lukun et al. Journal of biomedical research 2019 May 34(2) 75-85
Similar articles in PubMed
[Malignant Hyperthermia - Diagnosis in Practice].
Girard Thierry et al. Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS 2019 Sep 54(9) 538-548
Similar articles in PubMed
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh Ognoon et al. British journal of anaesthesia 2019 Sep 123(3) e461-e463
Similar articles in PubMed
Pharmacogenomic considerations for medications in the perioperative setting.
Jhun Ellie H et al. Pharmacogenomics 2019 Jul 20(11) 813-827
Similar articles in PubMed
CLINGEN Actionability Report for Malignant Hyperthermia Susceptibility - RYR1, CACNA1S
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 Glycogen Storage Disease V - PYGM
ClinGen Actionability Working Group
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes.
Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov
Similar articles in PubMed
Routine DNA Screening Moves Into Primary Care
M Andrews, NPR, May 22, 2018
Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.
Jain Abhinav et al. Molecular genetics and genomics : MGG 2018 Mar
Similar articles in PubMed
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano Soledad et al. Neuromuscular disorders : NMD 2017 May 27(5) 492-499
Similar articles in PubMed
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi Sheila et al. Anesthesiology 2018 128(1) 168-180
Similar articles in PubMed
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
Crosslin David R et al. Genome Med 2015 7(1) 67
Similar articles in PubMed
File Formats Help:
How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?
Adobe PDF file
Microsoft PowerPoint file
Microsoft Word file
Microsoft Excel file
Audio/Video file
Apple Quicktime file
RealPlayer file
Text file
Zip Archive file
SAS file
ePub file
Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
TOP