VIICTR
Profiles
ORIT
Pediatrics CRA
Home
About
Overview
Sharing Data
ORCID
Help
History (0)
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Search Result Details
Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
GIBBS, RICHARD
One or more keywords matched the following items that are connected to
GIBBS, RICHARD
Item Type
Name
Academic Article
Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.
Academic Article
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Academic Article
What everybody should know about the rat genome and its online resources.
Academic Article
Genome-sequencing anniversary. Bringing genomics and genetics back together.
Academic Article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
Academic Article
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article
Human genome sequencing in health and disease.
Academic Article
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Concept
Genetic Diseases, Inborn
Concept
Eye Diseases, Hereditary
Academic Article
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
Academic Article
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article
Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Academic Article
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Academic Article
Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Academic Article
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Academic Article
Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article
The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.
Grant
Comprehensive Analysis of Genetic Alterations in Oral Cancer
Academic Article
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Academic Article
Reanalysis of Clinical Exome Sequencing Data.
Academic Article
A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article
Exome variant discrepancies due to reference-genome differences.
Academic Article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Search Criteria
Genetic Diseases Inborn