ক্যারোলিন এফ রাইট গবেষক
Wright, Caroline, Dr.
VIAF ID: 160988914 (Personal)
Permalink: http://viaf.org/viaf/160988914
Preferred Forms
- 100 1 _ ‡a Wright, Caroline, ‡c Dr.
- 100 0 _ ‡a ক্যারোলিন এফ রাইট ‡c গবেষক
4xx's: Alternate Name Forms (4)
Works
Title | Sources |
---|---|
Assessing performance of pathogenicity predictors using clinically relevant variant datasets | |
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting | |
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research | |
Biomarkers, Dementia, and Public Health | |
Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing | |
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data | |
Conceptual issues for screening in the genomic era - time for an update? | |
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation | |
The Deciphering Developmental Disorders (DDD) study. | |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. | |
Empirical research on the ethics of genomic research. | |
Evaluating variants classified as pathogenic in ClinVar in the DDD Study | |
Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how? | |
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations | |
Expanded universal carrier screening and its implementation within a publicly funded healthcare service | |
Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine? | |
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER | |
Genomic variant sharing: a position statement | |
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease | |
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data | |
The importance of loop length in the folding of an immunoglobulin domain | |
The importance of sequence diversity in the aggregation and evolution of proteins | |
Informatics and clinical genome sequencing: opening the black box. | |
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. | |
A new strategic phase for genomic medicine in UK health services | |
No expectation to share incidental findings in genomic research. | |
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms | |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome | |
Paediatric genomics: diagnosing rare disease in children. | |
Pathogenicity and selective constraint on variation near splice sites | |
Potential research participants support the return of raw sequence data | |
Principle of proportionality in genomic data sharing | |
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. | |
Quality Issues in the Evaluation and Regulation of Genetic Testing Services: A Public Health Approach | |
Quantifying the contribution of recessive coding variation to developmental disorders | |
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population | |
Realising the benefits of genetics for health | |
Returning genome sequences to research participants: Policy and practice | |
Review of massively parallel DNA sequencing technologies | |
Size of the direct-to-consumer genomic testing market. | |
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration | |
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders | |
Thermodynamic characterisation of two transition states along parallel protein folding pathways. | |
The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis | |
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1 | |
VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants | |
When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited |