Keyphrases
Developmental Delay
100%
Neurodevelopmental Disorders
77%
Intellectual Disability
66%
Biallelic
59%
Missense Variants
57%
Undiagnosed Diseases Network
56%
Pathogenic Variants
51%
Genome Sequencing
47%
Epilepsy
39%
Exome Sequencing
36%
Seizure
33%
Gain-of-function mutation
33%
Proband
30%
Autosomal Dominant
29%
Osteogenesis Imperfecta
27%
Biallelic Variants
26%
Haploinsufficiency
25%
Hypotonia
24%
Autism
24%
Microcephaly
24%
Phenotypic Spectrum
24%
Neurodevelopmental Phenotypes
23%
Dominant Negative
23%
Neurological Disorders
21%
Undiagnosed Diseases
21%
Cerebellar Hypoplasia
20%
Gain-of-function
20%
Phenotypic Expansion
19%
Clinical Care
19%
Autism Spectrum Disorder
19%
Loss Function
19%
Neurodevelopmental Syndrome
18%
Duplication
18%
Truncating Variant
18%
Diagnostic Odyssey
18%
Rare Diseases
18%
Fibroblasts
17%
Partial Loss
17%
Dysmorphism
16%
Drosophilidae
16%
Intronic Variant
15%
Neurodevelopment
14%
Functional Analysis
14%
Mendelian Disorders
14%
Coloboma
13%
Syndromic Neurodevelopmental Disorder
13%
CACNA1C
13%
Related Disorders
13%
WDR37
13%
FAR1
13%
Biochemistry, Genetics and Molecular Biology
Missense
97%
Intellectual Disability
88%
Genetics
69%
Proband
56%
Genome Sequencing
51%
Fibroblast
47%
Exome Sequencing
36%
Bone Development
35%
Autosomal Dominant Inheritance
33%
Genomics
31%
Haploinsufficiency
30%
Exon
29%
Amino Acids
22%
Allele
20%
Exome Sequencing
19%
Mosaicism
19%
Nerve Cell Differentiation
19%
Candidate Gene
18%
Diptera
17%
RNA Sequence
17%
Next Generation Sequencing
16%
Autosomal Recessive Inheritance
15%
Germ Cell
15%
Dysplasia
14%
Caenorhabditis Elegans
14%
Messenger RNA
14%
Cartilage Associated Protein
13%
Cognition
13%
Enzyme
13%
Chromodomain
13%
Helicase
13%
FKBP10
13%
Kinase
13%
Phosphotransferase
13%
DNA-binding Protein
13%
Ether Lipid
13%
Signal Transduction
12%
Orthology
12%
Body Height
12%
RNA
12%
Wild Type
12%
Oxygenase
11%
Actin
11%
Serine
11%
Exome
10%
Dynamics
10%
ATPase
10%
Genetic Divergence
10%
Induced Pluripotent Stem Cell
10%
Zebra Fish
10%
