NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine-Reference-Cited by-同舟云学术

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Published:2016-04-15 Issue:6 Volume:37 Page:516-523
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abulí Anna¹,Boada Montserrat²,Rodríguez-Santiago Benjamín³,Coroleu Buenaventura²,Veiga Anna²,Armengol Lluís³,Barri Pedro N.²,Pérez-Jurado Luis A.⁴⁵⁶,Estivill Xavier¹⁴⁵⁷⁸

Affiliation:

1. Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction; Dexeus Women's Health; Barcelona Spain

2. Service of Reproduction Medicine, Obstetrics, Department of Obstetrics, Gynaecology and Reproduction; Dexeus Women's Health; Barcelona Spain

3. Research and Development Department; qGenomics Laboratory; Barcelona Spain

4. Genetics Unit, Department of Experimental and Health Sciences; Pompeu Fabra University (UPF); Barcelona Spain

5. Hospital del Mar Research Institute (IMIM); Barcelona Spain

6. CIBER in Rare Disorders (CIBERER); Barcelona Spain

7. Centre for Genomic Regulation (CRG); The Barcelona Institute of Science and Technology; Barcelona Spain

8. CIBER in Epidemiology and Public Health (CIBERESP); Barcelona Spain. Experimental Genetics Division; Sidra Medical and Research Centre; Doha Qatar

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22989/fullpdf

Reference30 articles.

1. Recommendations for gamete and embryo donation: a committee opinion;ASRM Practice Committee of American Society for Reproductive Medicine, Practice Committee of Society for Assisted Reproductive Technology;Fertil Steril,2013

2. Gamete donation guidelines. The Corsendonk consensus document for the European Union;Barratt;Hum Reprod,1998

3. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci Transl Med,2011

4. Heritable disease and sperm donation;Bream;JAMA,2010

5. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens;Casals;Hum Reprod,2000

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