DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
about
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationEnsembl 2014XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingSmall supernumerary marker chromosomes and their correlation with specific syndromesFacilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHERThe Matchmaker Exchange: a platform for rare disease gene discoveryToward knowledge support for analysis and interpretation of complex traitsPhenoMiner: from text to a database of phenotypes associated with OMIM diseases.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Molecular genetic testing and the future of clinical genomics.Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.Detection of chromosomal breakpoints in patients with developmental delay and speech disordersCopy Number Variants Associated with 14 Cases of Self-Injurious BehaviorCopy number variations and cognitive phenotypes in unselected populationsSG-ADVISER CNV: copy-number variant annotation and interpretation.Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways.Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.How to use… microarray comparative genomic hybridisation to investigate developmental disorders.Genetic, environmental, and epigenetic factors involved in CAKUT.When TADs go bad: chromatin structure and nuclear organisation in human diseaseA Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan.Rare Diseases: Drug Discovery and Informatics Resource.Reaching a CNV milestone.De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.Matchmaker Exchange.Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
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P2860
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
DECIPHER: web-based, community ...... nts in developmental disorders
@ast
DECIPHER: web-based, community ...... nts in developmental disorders
@en
DECIPHER: web-based, community ...... nts in developmental disorders
@nl
type
label
DECIPHER: web-based, community ...... nts in developmental disorders
@ast
DECIPHER: web-based, community ...... nts in developmental disorders
@en
DECIPHER: web-based, community ...... nts in developmental disorders
@nl
prefLabel
DECIPHER: web-based, community ...... nts in developmental disorders
@ast
DECIPHER: web-based, community ...... nts in developmental disorders
@en
DECIPHER: web-based, community ...... nts in developmental disorders
@nl
P2093
P2860
P50
P356
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DECIPHER: web-based, community ...... nts in developmental disorders
@en
P2093
Eleni A Chatzimichali
Eugene Bragin
Helen V Firth
Matthew E Hurles
Nigel P Carter
P2283
P2860
P304
P356
10.1093/HMG/DDS362
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P577
2012-09-08T00:00:00Z