Keyphrases
Denmark
60%
Pathogenic Variants
44%
Intellectual Disability
42%
Breast Cancer Susceptibility Gene 1 (BRCA1)
37%
BRCA2
29%
BRCA2 mutation
28%
Germ Cells
28%
Breast Cancer Risk
25%
BRCA mutation Carriers
24%
Phenotypic Spectrum
22%
Autosomal Recessive
22%
Clinical Features
21%
Missense Variants
20%
Genotype
20%
Neurodevelopmental Disorders
20%
Genotype-phenotype Correlation
19%
BRCA1, BRCA2
19%
Breast Cancer
18%
Confidence Interval
18%
Genetic Testing
18%
Epilepsy
18%
Ovarian Cancer Risk
18%
Developmental Delay
17%
Ovarian Cancer
17%
Phenylketonuria
17%
Genetic Counseling
16%
Duplication
16%
Cancer Risk
15%
Rett Syndrome
15%
Menkes Disease
14%
Hearing Impairment
14%
Proband
14%
Microdeletion
14%
Biallelic
13%
Mitochondrial DNA
13%
Missense mutation
13%
Whole Genome Sequencing
13%
Compound Heterozygous mutation
12%
Autosomal Dominant
12%
Lynch Syndrome
12%
Early Onset
12%
Seizure
12%
High Risk
11%
Mutation Carriers
11%
Melanoma
11%
Copy number Variation
11%
Family Members
11%
Genetic Analysis
11%
Variants of Uncertain Significance
11%
Clinical Spectrum
11%
Retinitis pigmentosa
11%
Alpha-mannosidosis
10%
Gene mutation
10%
Fetus
10%
Fibroblasts
10%
Mitochondrial Disease
10%
Hazard Ratio
10%
Genome-wide Association Study
10%
Induced Pluripotent Stem Cells (iPSCs)
10%
Novel mutation
10%
Newborn Screening
10%
Clinical Phenotype
10%
ATP7A
9%
Exon
9%
Tumor
9%
Gilles De La Tourette Syndrome
9%
Gain-of-function mutation
9%
Age of Onset
9%
Point mutation
9%
Gene Variants
9%
Imprinting Disorders
9%
Exome Sequencing
8%
Etiology
8%
X-linked
8%
Novel Variants
8%
Hereditary Colorectal Cancer Syndromes
8%
Autism Spectrum Disorder
8%
Next-generation Sequencing
8%
Short Stature
8%
Splicing mutation
8%
Genotype-phenotype
8%
Haploinsufficiency
8%
Molecular Diagnostics
8%
Mitochondrial DNA mutation
8%
Clinical Genetics
8%
Mosaicism
8%
Late-onset
8%
Family History
7%
Nonsense mutation
7%
BRCA mutation
7%
Uveal Melanoma
7%
National Cohort Study
7%
Acute Lymphoblastic Leukemia
7%
Limb-girdle muscular Dystrophy
7%
Muscle Biopsy
7%
Breast
7%
Cancer Families
7%
Polygenic Risk Score
7%
Missense
7%
Europe
7%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
BRCA1
54%
BRCA2
45%
Germ Cell
45%
Intellectual Disability
44%
Germline
43%
Genotyping
37%
Genetic Screening
35%
Prevalence
34%
Missense
34%
Exon
28%
Allele
24%
Exome Sequencing
22%
Fibroblast
20%
Proband
20%
Mosaicism
20%
Genotype Phenotype Correlation
19%
Autosomal Recessive Inheritance
18%
Enzyme
18%
Autosomal Dominant Inheritance
17%
Cohort Study
17%
Missense Mutation
16%
Genetic Counseling
16%
Whole Genome Sequencing
14%
Gene Mutation
13%
Next Generation Sequencing
13%
Molecular Genetics
13%
Candidate Gene
13%
Methylation
13%
Point Mutation
12%
Array Comparative Genomic Hybridization
12%
ATP7A
12%
Penetrance
12%
Mitochondrial DNA
12%
Menkes Disease
12%
Wild Type
11%
Cytogenetics
11%
Single-Nucleotide Polymorphism
11%
Amino Acids
11%
Body Height
10%
Genome-Wide Association Study
10%
Haploinsufficiency
10%
Transfer RNA
10%
Retinitis pigmentosa
10%
Newborn Screening
10%
Genetic Divergence
9%
DNA Methylation
9%
Copy-Number Variation
9%
Myeloid
9%
RNA
9%
Nonsense Mutation
9%
Genetic Disorder
9%
Germline Mutation
8%
Induced Pluripotent Stem Cell
8%
Rett Syndrome
8%
Mitochondrial Disease
8%
Mouse
8%
Electron Transport Chain
8%
Screening
8%
Dysplasia
8%
Genetic Carrier
8%
Heterozygote
8%
Comorbidity
8%
Fluorescence in Situ Hybridization
7%
Skeletal Muscle
7%
Oxidoreductase
7%
Epigenetics
7%
Haplotype
7%
Metabolic Pathway
7%
Single Nucleotide Polymorphism
7%
Enzyme Activity
7%
Messenger RNA
7%
DNA Mismatch Repair
6%
Genome Sequencing
6%
MSH2
6%
Autosomal Recessive Disorder
6%
Sanger Sequencing
6%
Population
6%
Mannosidosis
6%
Mutational Load
6%
Chromosomal Rearrangement
6%
Aneuploidy
6%
Computer Model
6%
Trisomy
6%
Estrogen Receptor
6%
Microdeletion Syndrome
6%
Mitochondrial Myopathy
6%
Zebra Fish
5%
Preimplantation
5%
Phosphotransferase
5%
Microarrays
5%
Homozygosity
5%
RNA Splicing
5%
Karyotype
5%
Multiplex Ligation-Dependent Probe Amplification
5%
Dehydrogenase
5%
Down Syndrome
5%
Splice Site Mutation
5%
Cross Sectional Study
5%
Trisomy 21
5%
Medicine and Dentistry
Disease
68%
Breast Cancer
27%
BRCA1
27%
Diagnosis
27%
Genetic Screening
24%
Symptom
23%
Malignant Neoplasm
23%
BRCA2
23%
Cancer Risk
22%
Prevalence
20%
Neoplasm
18%
Ovarian Cancer
18%
Cohort Analysis
14%
Nodular Melanoma
13%
Genetic Counseling
11%
Magnetic Resonance Imaging
11%
Epileptic Seizure
11%
Childbirth
11%
Developmental Delay
9%
Hearing Impairment
9%
Newborn Screening
9%
Autosomal Recessive Inheritance
9%
Uveal Melanoma
9%
Mitochondrial DNA
9%
Acute Lymphoblastic Leukemia
8%
Hereditary Nonpolyposis Colorectal Cancer
8%
Autosomal Dominant Inheritance
8%
Phenylketonuria
8%
Genetic Analysis
8%
Mannosidosis
8%
Genotype Phenotype Correlation
8%
Polyposis
8%
Disease Course
7%
Myopathy
7%
Clinical Feature
7%
Cancer Susceptibility
7%
Pediatrics
7%
Hazard Ratio
7%
Rett Syndrome
7%
Gene Mutation
6%
Mosaicism
6%
First Trimester Pregnancy
6%
Retinitis pigmentosa
6%
Visual Acuity
6%
Exon
6%
Autosomal Dominant Optic Atrophy
6%
Colorectal Cancer
6%
Eye Disease
6%
Brain Disease
6%
Cross Sectional Study
5%
Congenital Malformation
5%
Clinical Finding
5%
Stereotypic Movement Disorder
5%
Family History
5%
Epileptic Absence
5%
Penetrance
5%
Genetic Disorder
5%
Whole Genome Sequencing
5%
Disease Predisposition
5%
Peutz Jeghers Syndrome
5%
Water-Electrolyte Imbalance
5%
Awareness
5%
Point Mutation
5%
Screening
5%