Keyphrases
Pathogenic Variants
77%
Gene Panel
52%
Dilated Cardiomyopathy
52%
X-linked
47%
Netherlands
39%
Intellectual Disability
39%
Associated Genes
30%
Genetic Testing
29%
Diagnostic Performance
28%
Monogenic
28%
Syndromic
26%
Chromosome X
26%
ZC4H2
26%
Disease-associated
26%
E3 Ubiquitin Ligase
26%
Medical Information
26%
Arthrogryposis multiplex Congenita
26%
What-if
26%
Human Chromosomes
26%
Hearing Impairment
26%
Behavior Disorders
26%
Sperm Donor
26%
Prognostic Relevance
26%
KCNQ1
26%
RING Finger
26%
Whole Exome Sequencing
26%
X-linked Intellectual Disability
26%
Diagnostic Significance
26%
Informed Consent
26%
Disease Genes
26%
Methylation Defects
26%
Hereditary Disease
26%
Variable Phenotype
26%
Beckwith-Wiedemann Syndrome
26%
Clinical Consequences
26%
Rnf12
26%
Intellectual Behavior
26%
Long Genes
26%
Gamete Donors
26%
Association Mechanism
26%
Kleefstra Syndrome
26%
Molecular Mechanism
26%
EHMT1
26%
Variation Analysis
26%
Genotype-phenotype Association
26%
Imprinting Center
21%
DNA Methylation Signature
21%
Zebrafish
21%
Missense Variants
19%
Missense
17%
Normal Behavior
17%
Ubiquitin Ligase Activity
17%
Interacting Proteins
17%
Normal Cognition
17%
Rlim
17%
LIM Domain
17%
Disease Gene Discovery
13%
Long QT Syndrome
13%
Donor Offspring
13%
Loss of Methylation
13%
High Probability
13%
X Chromosome
13%
Machine Learning Classifiers
13%
Mode of Inheritance
13%
Difficult Situations
13%
TRPC5
13%
Dispensable Genes
13%
Donor children
13%
Exon
13%
CDK16
13%
Donor Gametes
13%
Gene Sharing
13%
Autism Spectrum Disorder
13%
Machine Learning
13%
Disease Association
13%
Seizure
13%
Autosomes
13%
Predicted Genes
13%
Causative Variant
11%
Haploinsufficiency
8%
Amino Acids
8%
Enzymatic Activity
8%
Catalytic Domain
8%
Gain-of-function mutation
8%
Transcription Factor
8%
In Vivo Experiment
8%
Normal Development
8%
Physical Features
8%
Maternal Transmission
8%
Behavioral Abnormalities
8%
Female Carrier
8%
Patient-specific
8%
Negative Regulator
8%
Protein Function
8%
Female Heterozygotes
8%
In Vitro Experiment
8%
X Chromosome Inactivation
8%
Congenital Malformations
8%
Amino Acid Variation
8%
Mild Phenotype
8%
INIS
genes
100%
genetics
83%
patients
76%
phenotype
73%
panels
52%
methylation
47%
females
37%
testing
37%
information
32%
netherlands
32%
mice
31%
diseases
29%
defects
29%
yields
29%
males
28%
proteins
27%
hereditary diseases
26%
prediction
26%
human x chromosome
26%
hearings
26%
ligases
26%
transcription
26%
sperm
26%
genotype
26%
spectra
24%
fingers
23%
losses
22%
dna
21%
gametes
19%
rings
19%
children
13%
amino acids
13%
offsprings
13%
in vitro
10%
transmission
10%
carriers
10%
x chromosome
9%
comparative evaluations
8%
methyl transferases
8%
chromosomes
6%
mutations
6%
transcription factors
6%
congenital malformations
6%
inactivation
6%
birth
6%
regulations
6%
mutants
6%
psychological behavior
6%
in vivo
6%
legal aspects
6%
hypothesis
5%
introns
5%
failures
5%
Biochemistry, Genetics and Molecular Biology
Missense
52%
Genetics
47%
Genetic Screening
34%
Intellectual Disability
34%
Genotyping
31%
LMNA
26%
Ubiquitin-Conjugating Enzyme
26%
X Chromosome
26%
Transcription
26%
Exome Sequencing
26%
Prevalence
26%
Methylation
26%
Zebra Fish
26%
EHMT1
26%
DNA Methylation
21%
Beckwith-Wiedemann Syndrome
20%
Wild Type
19%
Amino Acids
17%
LIM Domain
17%
Ubiquitin Ligase
17%
Titin
15%
Long QT Syndrome
15%
Cardiac Dysrhythmia
13%
USH2A
13%
Genetic Counseling
11%
Wild Type Mouse
10%
Haploinsufficiency
9%
Exon
8%
Transcription Factors
8%
X Chromosomal Inheritance
8%
Enzyme Active Site
8%
Protein Function
8%
Enzyme Activity
8%
TRPC5
8%
Gene Discovery
8%
C-Terminus
8%
Autosome
8%
X-Inactivation
8%
Loss of Function Mutation
8%
Promoter Region
8%
Gene Analysis
8%
Copy-Number Variation
6%
GJB2
6%
Autosomal Recessive Inheritance
6%
Mouse Model
5%
Germline
5%
Intron
5%
Germ Cell
5%
Gene Cluster
5%
Lamin
5%
RNA Sequence
5%
Epimutation
5%
Population Research
5%
Genetic Divergence
5%
Genomics
5%