Keyphrases
Neurodevelopmental Disorders
85%
Developmental Delay
83%
Undiagnosed Diseases Network
66%
Missense Variants
60%
Intellectual Disability
60%
Biallelic
48%
Pathogenic Variants
47%
Genome Sequencing
43%
Seizure
38%
Epilepsy
35%
Exome Sequencing
33%
Gain-of-function mutation
31%
Loss Function
27%
Proband
26%
Microcephaly
26%
Phenotypic Spectrum
25%
Autosomal Dominant
24%
Biallelic Variants
23%
Hypotonia
23%
Osteogenesis Imperfecta
22%
Haploinsufficiency
22%
Autism
21%
Undiagnosed Diseases
21%
Diagnostic Odyssey
20%
Dominant Negative
20%
Neurodevelopmental Phenotypes
19%
Syndromic Neurodevelopmental Disorder
19%
Neurological Disorders
17%
Rare Diseases
17%
Dysmorphism
17%
Cerebellar Hypoplasia
16%
Autism Spectrum Disorder
16%
Gain-of-function
16%
Phenotypic Expansion
16%
Clinical Care
16%
Rare Disease Patients
16%
Fibroblasts
15%
Partial Loss
15%
Neurodevelopmental Syndrome
15%
Duplication
15%
Truncating Variant
15%
Related Disorders
14%
Drosophilidae
14%
Mendelian Disorders
13%
Intronic Variant
12%
Neurodevelopment
12%
Pathogenicity
12%
Global Developmental Delay
11%
Functional Analysis
11%
RNA Sequencing (RNA-seq)
11%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Intellectual Disability
80%
Genetics
60%
Proband
49%
Genome Sequencing
45%
Fibroblast
45%
Exome Sequencing
33%
Genomics
31%
Bone Development
28%
Autosomal Dominant Inheritance
27%
Haploinsufficiency
26%
Exon
26%
Amino Acids
23%
RNA Sequence
21%
Next Generation Sequencing
18%
Allele
18%
Germ Cell
18%
Exome Sequencing
16%
Mosaicism
16%
Nerve Cell Differentiation
15%
Candidate Gene
15%
Zebra Fish
13%
Autosomal Recessive Inheritance
13%
Caenorhabditis Elegans
12%
Germline
12%
Dysplasia
12%
Programmed Cell Death
11%
Binding Site
11%
Messenger RNA
11%
Body Height
11%
Cartilage Associated Protein
11%
Gene Expression Profiling
11%
Chromodomain
10%
Helicase
10%
FKBP10
10%
Kinase
10%
Phosphotransferase
10%
DNA-binding Protein
10%
Ether Lipid
10%
Rare Variant
10%
Orthology
10%
RNA
9%
Wild Type
9%
Oxygenase
9%
Lysine
9%
Enzyme
9%
Serine
9%
Cell Proliferation
9%
Transcription Factors
8%
Exome
8%
