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Keyphrases
Congenital Heart Disease
100%
Noonan Syndrome
77%
RASopathies
43%
Congenital Heart Defects
32%
PTPN11
28%
PTPN11 mutation
26%
Whole Genome Sequencing
25%
SHP2
24%
Cathepsin K
22%
Genetic Disease
22%
Hypertrophic Cardiomyopathy
22%
Induced Pluripotent Stem Cells (iPSCs)
20%
Mitogen-activated Protein Kinase
19%
Genome Sequencing
17%
Germline
17%
Pycnodysostosis
17%
Proband
17%
LEOPARD Syndrome
15%
Disease Genes
14%
Rare Variants
14%
Marfan Syndrome
13%
Gain-of-function
13%
Gain-of-function mutation
13%
Genotype-phenotype Correlation
12%
Precision Medicine
12%
Autosomal Recessive
12%
Protein Tyrosine Phosphatase 1B (PTP1B)
12%
Copy number Variation
11%
Genomic Medicine
11%
Exome Sequencing
11%
Genomic Sequencing
11%
Missense mutation
11%
Missense Variant
11%
Missense
10%
Clinical Spectrum
10%
RAF1
10%
Trans-omics
10%
Hexokinase
10%
Neurodevelopmental Disorders
10%
Genetic Testing
9%
COVID-19
9%
Genotype
9%
Patent Ductus Arteriosus
9%
Pathogenic Variants
9%
Autosomal Dominant Disorder
9%
Cardiofaciocutaneous Syndrome
9%
Phenotypic Spectrum
9%
Germline mutation
9%
Gene Encoding
9%
De-novo mutations
9%
Biochemistry, Genetics and Molecular Biology
Genetics
74%
PTPN11
51%
Genomics
44%
Genome Sequencing
29%
Whole Genome Sequencing
28%
Missense
25%
Rare Variant
24%
Mitogen-Activated Protein Kinase
24%
Germ Cell
23%
Exome Sequencing
23%
Cardiac Muscle Cell
21%
Pediatrics
20%
Proband
20%
Allele
20%
Chromosome
20%
Genetic Divergence
19%
Cathepsin K
19%
Germline
19%
Deficiency
18%
Signal Transduction
18%
Genetic Disorder
18%
Prevalence
17%
Genotyping
15%
Protein Tyrosine Phosphatase
15%
Genetic Screening
15%
Missense Mutation
14%
Autosomal Recessive Inheritance
14%
Induced Pluripotent Stem Cell
13%
Body Height
13%
Autosomal Dominant Inheritance
13%
Transcription Factors
13%
Genotype-Phenotype Correlation
12%
Dysplasia
12%
Haplotype
11%
Chromatin
11%
SOS1
11%
Gene Linkage
10%
Gene Expression
10%
Human Induced Pluripotent Stem Cell
10%
Genetic Variation
10%
Thiamine
10%
Exome
10%
Germline Mutation
9%
Mosaicism
9%
Fruit Fly
9%
Genome Wide Association Study
9%
Fibroblast
8%
Hexokinase
8%
Myeloid
8%
KRAS
8%
Medicine and Dentistry
Genetics
56%
Persistent Truncus Arteriosus
34%
Diseases
32%
Noonan Syndrome
25%
Mitogen-Activated Protein Kinase
25%
Pediatrics
22%
Genetic Disorder
18%
Genome Sequencing
17%
Clinician
15%
Congenital Heart Defect
14%
Hypertrophic Cardiomyopathy
14%
Signal Transduction
10%
Marfan Syndrome
8%
Cardiovascular System
8%
Pediatrics Patient
8%
Whole Genome Sequencing
7%
Genetic Screening
7%
Exome Sequencing
7%
Germ Cell
7%
Etiology
7%
Cardiovascular Disease
7%
Noonan Syndrome with Multiple Lentigines
7%
Health Care Cost
6%
Prevalence
6%
Ras Signaling
6%
Aortic Root
6%
Heart Disease
6%
Malignant Neoplasm
6%
Neurofibromatosis Type I
6%
Heart Transplantation
6%
Somatics
6%
Patent Ductus Arteriosus
5%
Dilated Cardiomyopathy
5%
Kinase Signaling
5%
Myocarditis
5%
Chromosome
5%
Molecular Pathology
5%
Personalized Medicine
5%
Autosomal Dominant Inheritance
5%
COVID-19
5%
Myocardial Disease
5%
Costello Syndrome
5%
