Keyphrases
Autosomal Dominant
20%
Biallelic
24%
Biallelic Variants
18%
Cell Migration
11%
Cerebellar Hypoplasia
11%
Developmental Delay
52%
Diagnostic Odyssey
17%
Dominant Negative
11%
Drosophilidae
16%
Dysmorphism
18%
Epilepsy
29%
Exome Sequencing
26%
Fibroblasts
11%
Forebrain
11%
Gain-of-function mutation
20%
Genome Sequencing
34%
Genomic Research
11%
Germ Cells
12%
Haploinsufficiency
13%
Human Disease
11%
Hypotonia
19%
Intellectual Disability
49%
Loss Function
16%
Microcephaly
13%
Missense Variants
53%
Neurodevelopmental Disorders
71%
Neurodevelopmental Phenotypes
19%
Neurodevelopmental Syndrome
16%
Neurological Disorders
18%
Notch Signaling
11%
Olig2
17%
Oligodendrocyte
20%
Oligodendrocyte Precursor Cells
12%
Orthologs
11%
Overexpression
11%
Pathogenic Variants
33%
Phenotypic Spectrum
17%
Proband
19%
Rare Disease Patients
16%
Rare Diseases
18%
Seizure
19%
Spinal Cord
14%
Syndromic Neurodevelopmental Disorder
19%
Transgenic Zebrafish
13%
Truncating Variant
15%
Undiagnosed Diseases
16%
Undiagnosed Diseases Network
64%
Vertebrates
12%
WDR37
11%
Zebrafish
100%
Biochemistry, Genetics and Molecular Biology
Actin
9%
Allele
22%
Amino Acids
19%
Autosomal Dominant Inheritance
22%
Binding Protein
8%
Binding Site
10%
Cadherin
11%
Candidate Gene
12%
Cell Migration
11%
Cell Proliferation
9%
Chemokine
14%
Chemokine Receptor
11%
Dynamics
8%
Embryogenesis
18%
Ether Lipid
11%
Exome Sequencing
22%
Exome Sequencing
16%
Exon
21%
Fibroblast
33%
Frizzled
8%
Gastrulation
10%
Gene Expression
10%
Genetics
44%
Genome Sequencing
40%
Genomics
26%
Germ Cell
13%
Germline
13%
Golgi Apparatus
11%
Haploinsufficiency
17%
Human Genetics
8%
Intellectual Disability
66%
Kinase
11%
Messenger RNA
10%
Missense
76%
Morphogenesis
11%
Mosaicism
11%
Next Generation Sequencing
13%
Orthology
12%
Penetrance
8%
Phosphotransferase
11%
Proband
34%
Promoter Region
8%
Rare Variant
11%
RNA
8%
RNA Sequence
15%
Serine
9%
Transcription Factors
11%
Transgenic Zebrafish
13%
Wnt Signaling Pathway
10%
Zebra Fish
96%
