1. Home
  2. Exome
  Subject:

Exome   New Search

View on DBpedia    View on Wikipedia
Top related subjects:
RELATED SUBJECTS:
The publications listed also have these subjects
Gene  14 times
Genome  7 times
Zygosity  6 times
Phenotype  6 times
Protein  4 times
Genetic disorder  4 times
Frameshift mutation  4 times
Syndrome  3 times
Mutation  3 times
Mouse  3 times
Missense mutation  3 times
Microcephaly  3 times
DNA  3 times
Sanger sequencing  2 times
Microsatellite instability  2 times
Immunohistochemistry  2 times
Genome-wide association study  2 times
Exon  2 times
DNA sequencing  2 times
Congenital disorder  2 times
Chromosome  2 times
Allele  2 times
1000 Genomes Project  2 times
Western blot  1 time
Trust law  1 time
Trimethoxyamphetamine  1 time
Transfer RNA  1 time
Thyroid  1 time
Subarachnoid hemorrhage  1 time
Stomach cancer  1 time
Skin  1 time
Single-nucleotide polymorphism  1 time
Serotonin  1 time
Sensorineural hearing loss  1 time
Saudi Arabia  1 time
Pyrosequencing  1 time
Protein kinase  1 time
Prostate cancer  1 time
Programmed cell death protein 1  1 time
Polymerase chain reaction  1 time
Peripheral neuropathy  1 time
Penetrance  1 time
Pakistan  1 time
Osteoporosis  1 time
Nucleotide  1 time
Norwegian language  1 time
Neurogenesis  1 time
Neuroendocrine cell  1 time
Near-sightedness  1 time
Myopathy  1 time
Myeloproliferative neoplasm  1 time
Myeloid tissue  1 time
Muscular dystrophy  1 time
Microsatellite  1 time
Metabolism  1 time
Magnetic resonance imaging  1 time
Magnesium  1 time
Long bone  1 time
Library  1 time
Landrace  1 time
Janus kinase 2  1 time
Janus kinase  1 time
Immune checkpoint  1 time
Illumina dye sequencing  1 time
Hypotonia  1 time
Hypothyroidism  1 time
Human musculoskeletal system  1 time
Human genome  1 time
Hormone  1 time
Homology modeling  1 time
Hearing loss  1 time
Goitre  1 time
Glutamic acid  1 time
Genotype  1 time
Genetic marker  1 time
Genetic linkage  1 time
Gene set enrichment analysis  1 time
G protein–coupled receptor  1 time
Finnish language  1 time
Excitotoxicity  1 time
Epileptic seizure  1 time
Epilepsy  1 time
Enzyme  1 time
Electromyography  1 time
Echocardiography  1 time
Dysplasia  1 time
DNA mismatch repair  1 time
Confidence interval  1 time
Colorectal cancer  1 time
Chromosome 1 (human)  1 time
Choline  1 time
Cerebral cortex  1 time
Cell surface receptor  1 time
Cell cycle  1 time
Cataract  1 time
Cardiac arrhythmia  1 time
Cardiac arrest  1 time
Cancer immunotherapy  1 time
Biopsy  1 time
Biomarker  1 time
Autosome  1 time
Attention deficit hyperactivity disorder  1 time
Altruism  1 time
Adenosine triphosphate  1 time

Publications tagged with this subject: 26

Note: Top 50 publications shown only. Open an item panel to view more info (open all)


1. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia

2. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

3. Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes

4. Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing

5. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

6. Multilevel genomics of colorectal cancers with microsatellite instability—clinical impact of JAK1 mutations and consensus molecular subtype 1

7. The Genetics of Intracranial Aneurysms

8. Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

9. Whole exome sequencing reveals a functional mutation in the GAIN domain of the Bai2 receptor underlying a forward mutagenesis hyperactivity QTL

10. Circulating tumor cells capture disease evolution in advanced prostate cancer

11. A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

12. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism

13. A computational method for estimating the PCR duplication rate in DNA and RNA-seq experiments

14. Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation

15. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

16. PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

17. Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

18. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

19. Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

20. Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

21. Interpreting whole genome and exome sequencing data of individual gastric cancer samples

22. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results

23. Exome sequence genotype imputation in globally diverse hexaploid wheat accessions

24. Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

25. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

26. Rare SLC1A1 variants in hot water epilepsy


Questions?

Drop us a message.