Keyphrases
Alzheimer's Disease
58%
Congenital Hydrocephalus
57%
Congenital Heart Disease
47%
De-novo mutations
42%
Neurodevelopmental Disorders
40%
Proband
38%
Exome Sequencing
35%
Whole Exome Sequencing
31%
Biallelic Variants
31%
Cerebral Palsy
25%
Intellectual Disability
25%
Rare Variants
23%
Epilepsy
23%
Genome-wide Association Study
21%
Risk Genes
20%
Hydrocephalus
19%
Gain-of-function mutation
18%
Syndromic Craniosynostosis
17%
Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)
17%
Hereditary Spastic Paraplegia
16%
BMP Signaling Pathway
16%
Evolutionary Genomics
16%
Pathogenic Variants
15%
Neural Stem Cells
15%
Biallelic
15%
Human Genetics
15%
Disease Case
14%
Risk Variant
14%
Single nucleotide Polymorphism
13%
Neurodevelopmental
13%
Autism
12%
Spastic
12%
Alzheimer's Disease Risk
12%
Human Epilepsy
12%
Vein of Galen Malformation
12%
Craniosynostosis
12%
Missense Variants
12%
Identify Risk
12%
Coding Variants
11%
Epileptic Encephalopathy
11%
Cerebrospinal Fluid
11%
Genome-wide Significance
11%
Neuritogenesis
10%
CACNA1E
10%
Dystonic Cerebral Palsy
10%
Arachnoid Cyst
10%
Wnt Signaling Pathway
10%
TFAP2A
10%
Contracture
10%
Hypermyelination
10%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Genetics
88%
Proband
65%
Genomics
61%
Liquid
36%
Missense
32%
Candidate Gene
28%
Exome
27%
Intellectual Disability
24%
Genome-Wide Association Study
24%
Stem Cell
22%
TREM2
21%
Genetic Divergence
18%
Rare Variant
17%
Wnt Signaling Pathway
16%
Single-Nucleotide Polymorphism
14%
Brain Development
13%
Epigenetics
13%
Offspring
12%
Morphogenesis
12%
Single Nucleotide Polymorphism
12%
Genetic Determinism
12%
Nervous System Development
11%
Allele
11%
Transcription Factors
11%
Haplotype
11%
RNA Sequence
11%
2,5-Dimethoxy-4-iodoamphetamine
10%
TFAP2B
10%
Hedgehog Signaling Pathway
10%
DNA Sequence
10%
Paralogy
10%
Protein Kinases
10%
PSEN1
10%
Tau
10%
Xenopus
10%
Cilium
10%
Cell Fate
10%
Angiogenesis
9%
Gene-Environment Interaction
9%
Prevalence
9%
Gene Linkage
9%
Transcriptome
9%
K Cl- Cotransporter
9%
Protein Function
8%
Gene Frequency
8%
Homozygote
8%
Human Genetics
8%
ACVRL1
8%
Kinase
8%