Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620517
Title:
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Authors:
Stals, Karen L; Wakeling, M.; Baptista, Júlia; Caswell, R.; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C; Lango-Allen, H.; Bradley, L.; Brady, A. F.; Carley, H.; Carmichael, J. A.; Castle, B.; Cilliers, D.; Cox, H.; Deshpande, C.; Dixit, A.; Eason, J.; Elmslie, F.; Fry, A. E.; Fryer, A.; Holder, M.; Homfray, T.; Kivuva, Emma; McKay, V.; Newbury-Ecob, R.; Parker, Michael; Savarirayan, Ravi; Searle, C.; Shannon, N.; Shears, D.; Smithson, S.; Thomas, E.; Turnpenny, Peter D.; Varghese, V.; Vasudevan, P.; Wakeling, E.; Baple, E. L.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred.
Citation:
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. 2017 Prenat. Diagn.
Publisher:
Wiley
Journal:
Prenatal diagnosis
Issue Date:
2-Nov-2017
URI:
http://hdl.handle.net/11287/620517
DOI:
10.1002/pd.5175
PubMed ID:
29096039
Additional Links:
http://dx.doi.org/10.1002/pd.5175
Type:
Journal Article
Language:
en
ISSN:
1097-0223
Appears in Collections:
Clinical Genetics (Peninsula Genetics); Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorStals, Karen Len
dc.contributor.authorWakeling, M.en
dc.contributor.authorBaptista, Júliaen
dc.contributor.authorCaswell, R.en
dc.contributor.authorParrish, Andrewen
dc.contributor.authorRankin, Juliaen
dc.contributor.authorTysoe, Carolynen
dc.contributor.authorJones, Garanen
dc.contributor.authorGunning, Adam Cen
dc.contributor.authorLango-Allen, H.en
dc.contributor.authorBradley, L.en
dc.contributor.authorBrady, A. F.en
dc.contributor.authorCarley, H.en
dc.contributor.authorCarmichael, J. A.en
dc.contributor.authorCastle, B.en
dc.contributor.authorCilliers, D.en
dc.contributor.authorCox, H.en
dc.contributor.authorDeshpande, C.en
dc.contributor.authorDixit, A.en
dc.contributor.authorEason, J.en
dc.contributor.authorElmslie, F.en
dc.contributor.authorFry, A. E.en
dc.contributor.authorFryer, A.en
dc.contributor.authorHolder, M.en
dc.contributor.authorHomfray, T.en
dc.contributor.authorKivuva, Emmaen
dc.contributor.authorMcKay, V.en
dc.contributor.authorNewbury-Ecob, R.en
dc.contributor.authorParker, Michaelen
dc.contributor.authorSavarirayan, Ravien
dc.contributor.authorSearle, C.en
dc.contributor.authorShannon, N.en
dc.contributor.authorShears, D.en
dc.contributor.authorSmithson, S.en
dc.contributor.authorThomas, E.en
dc.contributor.authorTurnpenny, Peter D.en
dc.contributor.authorVarghese, V.en
dc.contributor.authorVasudevan, P.en
dc.contributor.authorWakeling, E.en
dc.contributor.authorBaple, E. L.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2017-11-21T11:30:46Z-
dc.date.available2017-11-21T11:30:46Z-
dc.date.issued2017-11-02-
dc.identifier.citationDiagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. 2017 Prenat. Diagn.en
dc.identifier.issn1097-0223-
dc.identifier.pmid29096039-
dc.identifier.doi10.1002/pd.5175-
dc.identifier.urihttp://hdl.handle.net/11287/620517-
dc.description.abstractRare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://dx.doi.org/10.1002/pd.5175en
dc.rightsArchived with thanks to Prenatal diagnosisen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleDiagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.en
dc.typeJournal Articleen
dc.identifier.journalPrenatal diagnosisen
dc.type.versionIn press (epub ahead of print)en

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