Evaluation and classification of severity for 176 genes on an expanded carrier screening panel-Reference-Cited by-同舟云学术

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Published:2020-06-16 Issue:10 Volume:40 Page:1246-1257
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Arjunan Aishwarya¹^ORCID,Bellerose Holly¹,Torres Raul¹,Ben‐Shachar Rotem¹,Hoffman Jodi D.²,Angle Brad³,Slotnick Robert Nathan⁴,Simpson Brittany N.⁵,Lewis Andrea M.⁶⁷,Magoulas Pilar L.⁶⁷,Bontempo Kelly³,Schulze Jeanine⁸,Tarpinian Jennifer⁹,Bucher Jessica A.³,Dineen Richard¹⁰,Goetsch Allison¹¹¹²,Lazarin Gabriel A.¹,Johansen Taber Katherine¹^ORCID

Affiliation:

1. Division of Medical Affairs Myriad Women's Health South San Francisco CA USA

2. Department of Pediatric Genetics Boston University School of Medicine Boston MA USA

3. Division of Genetics Advocate Children's Hospital Park Ridge IL USA

4. Department of Internal Medicine Renown Health Cancer Institute Reno NV USA

5. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA

6. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

7. Department of Molecular and Human Genetics Texas Children's Hospital Houston TX USA

8. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA

9. Individualized Medical Genetics Center Children's Hospital of Philadelphia Philadelphia PA USA

10. Department of Clinical Genetics and Genomics Rush University Medical Center Chicago IL USA

11. Division of Genetics, Birth Defects & Metabolism Ann and Robert H. Lurie Children's Hospital of Chicago Chicago IL USA

12. Department of Pediatrics Feinberg School of Medicine, Northwestern University Chicago IL USA

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5762

Reference24 articles.

1. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

2. ACOG Committee on Genetics.ACOG Committee Opinion No. 690: carrier screening in the age of genomic medicine.2017.

3. ACMG position statement on prenatal/preconception expanded carrier screening

4. Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

5. Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results

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