Keyphrases
Genetic Testing
56%
Pediatric Population
45%
Diagnostic Performance
37%
Congenital Cataract
30%
United States
30%
Likely Pathogenic Variant
29%
Sudden Death
26%
Pediatric Patients
26%
Dilated Cardiomyopathy
25%
Variants of Uncertain Significance
25%
Disease Variants
25%
Cardiomyopathy
21%
Ophthalmic Manifestations
21%
Compound Heterozygous mutation
20%
Diverse Populations
18%
American College of Medical Genetics
17%
Variant Classification
17%
Family History
17%
Monogenic
16%
Penetrant
16%
Genotype
16%
Exome Aggregation Consortium
16%
Reclassification
16%
Pediatric Dilated Cardiomyopathy
15%
Missense Variation
15%
Autopsy
15%
Ocular Albinism
15%
Clinical Diagnostic Laboratory
15%
Cardiac Outcomes
15%
Phenotypic Spectrum
15%
Variant Frequency
15%
RBM20
15%
DHX16
15%
Ghosal Hematodiaphyseal Dysplasia
15%
Thromboxane Synthase
15%
Life-threatening Arrhythmias
15%
Copy number Variation
15%
Clinical Genome
15%
Autosomal Recessive
15%
Arrhythmogenic Cardiomyopathy
15%
Nonsyndromic
15%
Genome Resources
15%
Frequency Threshold
15%
Genome Interpretation
15%
Decedents
15%
Young Individuals
15%
Oculocutaneous Albinism
15%
Exome
15%
High-resolution
15%
TECRL
15%
Biochemistry, Genetics and Molecular Biology
Genetic Screening
100%
Genetics
37%
Cardiac Dysrhythmia
25%
Genotyping
22%
Missense
22%
Medical Genetics
20%
Exon
20%
MYH7
17%
Rare Variant
15%
DNA Binding
15%
Sample Size
15%
Assertiveness
15%
Heart Ejection Fraction
15%
C-Terminus
15%
Laboratory Test
15%
Thromboxane-A Synthase
15%
Genetic Architecture
15%
Dysplasia
15%
Albinism
15%
Genomics
15%
Microdeletion Syndrome
15%
Primary Ciliary Dyskinesia
15%
Genetic Counseling
15%
Glycine Cleavage System
15%
Homozygosity
15%
Inborn Error of Metabolism
15%
Genetic Divergence
12%
LMNA
12%
Exome Sequencing
12%
Sudden Cardiac Death
10%
Population
10%
Penetrance
7%
Bioinformatics
7%
Coding Region
7%
ACTC1
7%
DNA-binding Domain
7%
TPM1
7%
Whole Genome Sequencing
7%
Protein Sequencing
7%
BAG3
7%
TNNT2
7%
Candidate Gene
7%
Normal Human
7%
Exome
7%
Protein Structure
7%
Translating (Language)
7%
Microarrays
5%
Prevalence
5%
Ventricular Tachycardia
5%
Proband
5%
Medicine and Dentistry
Pediatrics
45%
Myocardial Disease
38%
Genetic Screening
33%
Sudden Death
30%
Agents Acting on the Eye
27%
Cardiac Dysrhythmia
24%
Diagnosis
18%
Molecular Diagnosis
17%
Population
16%
Dilated Cardiomyopathy
16%
Dysplasia
15%
Hypertrophic Cardiomyopathy
15%
Autosomal Recessive Inheritance
15%
Thromboxane
15%
Synthetase
15%
Congenital Malformation
15%
Syndrome CHARGE
15%
Stickler Syndrome
15%
Diseases
10%
Long QT Syndrome
10%
Propranolol
10%
Nadolol
10%
Catecholaminergic Polymorphic Ventricular Tachycardia
10%
Pediatrics Patient
8%
Retinal Detachment
7%
Metoprolol
5%
Anemia
5%
Heterozygote
5%
Family History
5%
Atenolol
5%
Beta Adrenergic Receptor Blocking Agent
5%
Combination Therapy
5%
Osteosclerosis
5%
Heart Disease
5%
Arrhythmia
5%
Onset Age
5%
Thrombocytopenia
5%
Next Generation Sequencing
5%
Cortical Bone
5%
Bisoprolol
5%
High Myopia
5%