Keyphrases
COVID-19
69%
Type I IFN
56%
Autoantibodies
55%
Pathogenic Variants
50%
Israel
46%
Israeli
44%
Genotype-phenotype Correlation
41%
Gaucher Disease
41%
Constitutional Mismatch Repair Deficiency (CMMRD)
41%
Gain-of-function mutation
39%
COVID-19 Pneumonia
38%
Life-threatening COVID-19
37%
Loss Function
36%
Type I Interferon
36%
Autosomal Recessive
36%
SARS-CoV-2 Infection
35%
Inborn Errors
33%
Human Genetics
32%
CD55
30%
Early Onset
29%
Life-threatening
26%
Neurodevelopmental Disorders
26%
Clinical Spectrum
24%
Homozygosity
24%
Critical COVID-19
24%
Genome Sequencing
23%
Toll-like Receptor 7 (TLR7)
23%
Exome Sequencing
22%
Truncating Variant
22%
Protein-losing Enteropathy
21%
Diagnostic Performance
21%
CHD4
20%
Comprehensive Investigation
20%
Microsatellite Instability-high (MSI-H)
20%
Community Data
20%
Immunity Genes
20%
Developmental Delay
20%
Screening Panel
20%
Chromosomal Microarray
19%
Missense Variants
19%
Genetic Diagnosis
19%
BRCA1, BRCA2
18%
Autosomal Dominant
17%
Detection Rate
17%
Clinical Outcomes
17%
Ovarian Cancer
17%
Duplication
17%
Genetic Testing
16%
Differential Diagnosis
16%
Severe Acute Respiratory Syndrome Coronavirus 2 Infection
16%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome Sequencing
67%
SARS Coronavirus
59%
Genotyping
51%
Autosomal Recessive Inheritance
48%
Autosomal Dominant Inheritance
41%
Autoantibodies
37%
Intellectual Disability
31%
Coronavirinae
30%
Missense
29%
Exon
26%
Wild Type
26%
interferon
26%
Penetrance
25%
Genome Sequencing
23%
Human Genetics
23%
DNA Methylation
23%
RNA
23%
Homozygosity
21%
Binding Protein
20%
Microsatellite Instability
20%
CHD4
20%
DNA Mismatch Repair
20%
Decay-Accelerating Factor
20%
Gaucher's Disease
20%
Epigenetics
20%
Genetic Screening
20%
Stop Codon
18%
Array Comparative Genomic Hybridization
18%
Genetic Counseling
17%
Fibroblast
16%
TLR7
16%
Prevalence
15%
BRCA1
15%
Mitochondrial Disorder
15%
Microarrays
15%
Pedigree
14%
Mouse
13%
Exome
13%
Allele
13%
Next Generation Sequencing
12%
BRCA2
12%
RNA Splicing
12%
Medical Genetics
11%
Inheritance
11%
Neurite Outgrowth
11%
Sanger Sequencing
11%
CHEK2
11%
Eicosanoid Receptor
11%
Single-Nucleotide Polymorphism
10%
Medicine and Dentistry
COVID-19
51%
Disease
40%
Gaucher's Disease
33%
Diagnosis
31%
DNA Mismatch Repair
30%
Protein Losing Enteropathy
30%
Exome Sequencing
27%
Severe Acute Respiratory Syndrome Coronavirus 2
23%
Decay Accelerating Factor
22%
Malignant Neoplasm
21%
Exon
20%
Cardiomyopathy
20%
Toll Like Receptor 7
20%
Thrombosis
20%
Array Comparative Genomic Hybridization
18%
Interferon Type I
17%
Infection
17%
Ovarian Cancer
16%
BRCA1
15%
Breast Cancer
15%
Penetrance
14%
Cohort Analysis
13%
Leukocyte
13%
Pregnancy Termination
13%
Prematurity
12%
Stop Codon
12%
Genetic Screening
12%
Hyperactivation
11%
BRCA2
11%
Consultation
11%
Fibrosis
11%
Oculomotor Apraxia
11%
Central Nervous System
11%
Genotype
11%
Genome Sequencing
11%
Human Genetics
10%
Joubert Syndrome
10%
Neonate
10%
Anatomy
10%
Intron
10%
Heterozygosity
10%
Patient Satisfaction
10%
Eculizumab
10%
Toll Like Receptor 3
10%
RNA Analysis
10%
Diagnostic Test
10%
Cardiac Dysrhythmia
10%
Microsatellite Instability
10%
Encephalocele
10%
Netrin 1
10%