Keyphrases
Alzheimer's Disease
60%
Congenital Hydrocephalus
59%
Congenital Heart Disease
48%
De-novo mutations
43%
Neurodevelopmental Disorders
41%
Proband
39%
Exome Sequencing
36%
Biallelic Variants
31%
Whole Exome Sequencing
31%
Intellectual Disability
26%
Rare Variants
24%
Epilepsy
24%
Genome-wide Association Study
22%
Risk Genes
20%
Cerebral Palsy
20%
Hydrocephalus
20%
Gain-of-function mutation
19%
Syndromic Craniosynostosis
18%
Triggering Receptor Expressed on Myeloid Cells 2 (TREM2)
17%
Hereditary Spastic Paraplegia
16%
BMP Signaling Pathway
16%
Evolutionary Genomics
16%
Pathogenic Variants
16%
Neural Stem Cells
15%
Biallelic
15%
Human Genetics
15%
Disease Case
14%
Risk Variant
14%
Single nucleotide Polymorphism
13%
Neurodevelopmental
13%
Autism
13%
Spastic
13%
Alzheimer's Disease Risk
12%
Human Epilepsy
12%
Vein of Galen Malformation
12%
Craniosynostosis
12%
Missense Variants
12%
Identify Risk
12%
Coding Variants
12%
Epileptic Encephalopathy
11%
Cerebrospinal Fluid
11%
Genome-wide Significance
11%
Neuritogenesis
11%
CACNA1E
11%
Dystonic Cerebral Palsy
11%
Arachnoid Cyst
11%
Wnt Signaling Pathway
11%
TFAP2A
11%
Contracture
11%
Hypermyelination
11%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Genetics
88%
Proband
61%
Genomics
57%
Liquid
37%
Candidate Gene
29%
Missense
27%
Genome-Wide Association Study
25%
Intellectual Disability
25%
Exome
22%
TREM2
22%
Stem Cell
17%
Genetic Divergence
17%
Wnt Signaling Pathway
16%
Single-Nucleotide Polymorphism
15%
Brain Development
14%
Epigenetics
14%
Progeny
13%
Single Nucleotide Polymorphism
12%
Allele
12%
Genetic Determinism
12%
Nervous System Development
12%
Transcription Factors
12%
Haplotype
11%
RNA Sequence
11%
2,5-Dimethoxy-4-iodoamphetamine
11%
TFAP2B
11%
Hedgehog Signaling Pathway
11%
DNA Sequence
11%
Paralogy
11%
Protein Kinases
11%
PSEN1
11%
Tau
11%
Xenopus
11%
Cilium
11%
Cell Fate
10%
Angiogenesis
9%
Gene-Environment Interaction
9%
Prevalence
9%
Gene Linkage
9%
K Cl- Cotransporter
9%
Protein Function
9%
Gene Frequency
8%
Human Genetics
8%
ACVRL1
8%
Kinase
8%
Phosphotransferase
8%
Next Generation Sequencing
7%
Morphogenesis
7%
Case-Control Study
7%