Keyphrases
16p11.2
19%
Autism
40%
Autism Spectrum Disorder
14%
Autosomal Dominant
15%
Autosomal Recessive
17%
Behavior Problems
19%
Behavioral Abnormalities
23%
Behavioral Phenotype
14%
Biallelic
25%
CHRNA7
14%
Clinical Characterization
22%
Clinical Features
16%
Clinical Phenotype
15%
Congenital Anomalies
27%
Copy number Variation
18%
De-novo mutations
14%
Developmental Delay
98%
Duplication
38%
Dysmorphic Features
25%
Epilepsy
19%
Exome Sequencing
27%
Facial Gestalt
16%
Familial Mediterranean Fever
47%
Gain-of-function mutation
26%
Genetic Disease
15%
Genotype
17%
Genotype-phenotype Correlation
22%
Global Developmental Delay
14%
Haploinsufficiency
17%
Hypomorphic mutation
13%
Hypotonia
36%
Intellectual Disability
98%
Loss Function
18%
M694V
22%
Microcephaly
21%
Microdeletion
30%
Microdeletion Syndrome
13%
Missense Variants
39%
Molecular Characterization
37%
Neurobehavioral Phenotype
16%
Neurodevelopmental Disorders
51%
Novel mutation
18%
Obesity
14%
Pathogenic Variants
46%
Phenotypic Characterization
31%
Phenotypic Spectrum
28%
Proband
25%
Related Disorders
26%
Seizure
26%
X-linked
19%
Biochemistry, Genetics and Molecular Biology
Allele
33%
Amino Acids
9%
Amyloidosis
13%
Anabolism
10%
Array Comparative Genomic Hybridization
16%
Autosomal Dominant Inheritance
21%
Autosomal Recessive Disorder
10%
Autosomal Recessive Inheritance
18%
Blood Plasma
10%
Body Height
9%
CHRNA7
17%
Comparative Genomic Hybridization
9%
Cytogenetics
11%
DNMT3A
12%
Dysplasia
15%
Enzyme
21%
Exome
9%
Exome Sequencing
57%
Exon
23%
Fibroblast
35%
Gain of Function Mutation
12%
Gamma-Aminobutyric Acid
11%
Gene Mutation
14%
Genetics
55%
Genomics
29%
Genotype Phenotype Correlation
22%
Genotyping
10%
Germ Cell
21%
Germline
21%
Haploinsufficiency
23%
Homeostasis
9%
Homologous Recombination
12%
Homozygote
16%
Infancy
12%
Intellectual Disability
100%
Intron
9%
Low Copy Repeats
16%
MEFV
25%
Methylation
15%
Microdeletion Syndrome
19%
Missense
67%
Missense Mutation
14%
Mitochondrial Disorder
11%
Penetrance
25%
Prevalence
20%
Proband
41%
Problem Behavior
19%
Transcription
9%
Wild Type
15%
Zebra Fish
14%
Medicine and Dentistry
Allele
7%
Anoctamin
8%
Autosomal Dominant Inheritance
6%
Brain Abnormalities
5%
Brain Disease
8%
Cognition
5%
Congenital Malformation
12%
Connective Tissue
5%
Contracture
5%
Degenerative Disease
5%
Developmental Delay
30%
Diagnosis
8%
Disease
32%
Disease Predisposition
6%
Disorders of Mitochondrial Functions
10%
Dysmorphic Feature
11%
Dysplasia
8%
Endosome
7%
Epileptic Seizure
19%
Exome Sequencing
11%
Familial Mediterranean Fever
12%
Family History
5%
Fracture
5%
Gain of Function Mutation
12%
Genetic Disorder
6%
Growth Hormone
5%
Human Genetics
8%
Hypoplasia
9%
Hypotonia
12%
Marfan Syndrome
8%
Microcephaly
7%
Neoplasm
12%
Neurodegeneration
5%
Osteopathia striata
8%
Pervasive Developmental Disorder
5%
Physical Examination
6%
Prevalence
7%
Respiratory Distress
7%
Sclerosis
9%
Tracheobronchomalacia
8%
Wheeze
5%
Whole Genome Sequencing
5%
Wilms' Tumor
5%
