Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620837
Title:
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Authors:
Yuan, B. [et al]; Baple, Emma L.; Rawlins, Lettie; Crosby, Andrew H.
Abstract:
Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.
Citation:
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 2018 Genet. Med.
Publisher:
Nature
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Issue Date:
30-Aug-2018
URI:
http://hdl.handle.net/11287/620837
DOI:
10.1038/s41436-018-0085-6
PubMed ID:
30158690
Additional Links:
http://dx.doi.org/10.1038/s41436-018-0085-6
Type:
Journal Article
Language:
en
ISSN:
1530-0366
Appears in Collections:
Clinical Genetics (Peninsula Genetics); Honorary contracts publications; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorYuan, B. [et al]en
dc.contributor.authorBaple, Emma L.en
dc.contributor.authorRawlins, Lettieen
dc.contributor.authorCrosby, Andrew H.en
dc.date.accessioned2018-10-02T13:44:30Z-
dc.date.available2018-10-02T13:44:30Z-
dc.date.issued2018-08-30-
dc.identifier.citationClinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 2018 Genet. Med.en
dc.identifier.issn1530-0366-
dc.identifier.pmid30158690-
dc.identifier.doi10.1038/s41436-018-0085-6-
dc.identifier.urihttp://hdl.handle.net/11287/620837-
dc.description.abstractDefects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/s41436-018-0085-6en
dc.rightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleClinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.en
dc.typeJournal Articleen
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen
dc.type.versionIn press (epub ahead of print)en

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