Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing-Reference-Cited by-同舟云学术

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

Published:2017-12-03 Issue:1 Volume:38 Page:33-43
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Stals Karen L.¹^ORCID,Wakeling Matthew²,Baptista Júlia¹²,Caswell Richard²,Parrish Andrew¹,Rankin Julia³,Tysoe Carolyn¹,Jones Garan¹,Gunning Adam C.¹,Lango Allen Hana²,Bradley Lisa⁴,Brady Angela F.⁵,Carley Helena⁶,Carmichael Jenny⁷,Castle Bruce³,Cilliers Deirdre⁸,Cox Helen⁹,Deshpande Charu⁶,Dixit Abhijit¹⁰,Eason Jacqueline¹⁰,Elmslie Frances¹¹,Fry Andrew E.¹²,Fryer Alan¹³,Holder Muriel⁶,Homfray Tessa¹¹,Kivuva Emma³,McKay Victoria¹³,Newbury-Ecob Ruth¹⁴,Parker Michael¹⁵,Savarirayan Ravi¹⁶,Searle Claire¹⁰,Shannon Nora¹⁰,Shears Deborah⁸,Smithson Sarah¹⁴,Thomas Ellen⁶,Turnpenny Peter D.³,Varghese Vinod¹²,Vasudevan Pradeep¹⁷,Wakeling Emma⁶,Baple Emma L.²³¹⁸,Ellard Sian¹²

Affiliation:

1. Molecular Genetics Department; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

2. Institute of Biomedical and Clinical Science; University of Exeter Medical School; Exeter UK

3. Clinical Genetics Department; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

4. Department of Clinical Genetics; Our Lady's Children's Hospital; Dublin Ireland

5. North West Thames Regional Genetics Service; London North West Healthcare NHS Trust; Harrow UK

6. Guy's Regional Genetics Service; Guy's and St Thomas' NHS Foundation Trust; London UK

7. Oxford Regional Clinical Genetics Service; Northampton General Hospital; Northampton UK

8. Oxford Centre for Genomic Medicine; Oxford University Hospitals NHS Foundation Trust; Oxford UK

9. West Midlands Medical Genetics Department; Birmingham Women's Hospital; Birmingham UK

10. Department of Clinical Genetics, City Campus; Nottingham University Hospitals NHS Trust; Nottingham UK

11. South West Thames Regional Genetics Service; St George's University Hospitals NHS Foundation Trust; London UK

12. Institute of Medical Genetics; University Hospital of Wales; Cardiff UK

13. Department of Clinical Genetics; Liverpool Women's NHS Foundation Trust; Liverpool UK

14. Department of Clinical Genetics; University Hospital Bristol; Bristol UK

15. Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Sheffield UK

16. Victorian Clinical Genetics Services; Murdoch Children's Research Institute; Melbourne Vic Australia

17. Leicester Clinical Genetics, Women's and Children's Services; Leicester Royal Infirmary; Leicester UK

18. Wessex Clinical Genetics Service; University Hospital Southampton NHS Foundation Trust; Southampton UK

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.5175/fullpdf

Reference37 articles.

1. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N Engl J Med,2013

2. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

3. xLarge-scale discovery of novel genetic causes of developmental disorders;Nature,2015

4. Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders;Reuter;JAMA Psychiat,2017

5. An exome sequencing strategy to diagnose lethal autosomal recessive disorders;Ellard;Eur J Hum Genet,2015

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