Keyphrases
Copy number Variation
95%
Autism
68%
Neurodevelopmental Disorders
59%
Smith-Magenis Syndrome
47%
Intellectual Disability
40%
Duplication
36%
Autism Spectrum Disorder
32%
Developmental Delay
30%
Schizophrenia
24%
Genomic Disorders
23%
Retinoic Acid
22%
Acid Activation
22%
Genetic Background
21%
Rare Variants
21%
Knockdown
20%
Microdeletion
19%
Complex Disorders
18%
Exome Sequencing
17%
17p11.2
16%
Genetic Basis
16%
Genetic Disease
16%
Segmental Duplication
15%
Drosophilidae
15%
Proband
15%
Multiple Genes
15%
RAI1
15%
Array Comparative Genomic Hybridization (aCGH)
14%
Drosophila Melanogaster
14%
Xenopus Laevis
14%
Pathogenicity
14%
Haploinsufficiency
13%
Comorbidity
13%
Neurodevelopmental
13%
Genetic Interaction
12%
Genetic Studies
12%
Drosophila Model
12%
Language Delay
12%
Behavior Problems
11%
Neurodevelopmental Phenotypes
11%
Genetic Architecture
11%
Structural Polymorphism
11%
Oligogenic
11%
Two-hit Model
11%
Copy number
10%
Developmental Phenotype
10%
Functional Assessment
9%
Orthologs
9%
16p11.2 Deletion
9%
Variable Expressivity
9%
Genetic Matching
9%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Smith-Magenis Syndrome
63%
Copy-Number Variation
49%
Intellectual Disability
45%
Tretinoin
44%
Retinoic Acid
44%
Low Copy Repeats
31%
Array Comparative Genomic Hybridization
29%
Exome Sequencing
23%
Genetic Disorder
23%
Genetic Divergence
21%
Proband
21%
Haploinsufficiency
21%
Brain Development
21%
Genetic Background
21%
Drosophila Melanogaster
20%
Population
20%
Rare Variant
17%
Zebra Fish
17%
Problem Behavior
16%
Gene Interaction
16%
Phenotypic Heterogeneity
15%
Quantitative Technique
15%
Xenopus laevis
14%
Exome
12%
Bioinformatics
12%
High Throughput Sequencing
11%
Gene Dosage
11%
Mouse
11%
Evolution
11%
Programmed Cell Death
11%
Cell Proliferation
11%
Missense
11%
Single Nucleotide Polymorphism
10%
Fluorescence in Situ Hybridization
9%
Nerve Cell Differentiation
9%
Transcriptome
9%
Whole Genome Sequencing
9%
Orthology
9%
Prevalence
8%
Transgenic Mouse
8%
Progeny
8%
Gene Discovery
8%
Chromatin Remodeling
8%
Enhancer Region
8%
Eye Development
8%
Exon
8%
RAI1
7%
Gene Mutation
7%
