Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting-Reference-Cited by-同舟云学术

Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting

Published:2020-10-15 Issue:11 Volume:99 Page:1427-1429
ISSN:0001-6349
Container-title:Acta Obstetricia et Gynecologica Scandinavica
language:en
Short-container-title:Acta Obstet Gynecol Scand

Author:

Maya Idit¹,Sukenik‐Halevy Rivka¹²,Basel‐Salmon Lina¹²,Sagi‐Dain Lena³^ORCID

Affiliation:

1. Rabin Medical Center Recanati Genetics InstituteBeilinson Hospital Petach Tikva Israel

2. Sackler School of Medicine Tel Aviv University Tel Aviv Israel

3. Genetics Institute Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion – Israel Institute of Technology Haifa Israel

Publisher

Wiley

Subject

Obstetrics and Gynaecology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aogs.13963

Reference9 articles.

1. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

2. Penetrance for copy number variants associated with schizophrenia

3. Analysis of protein-coding genetic variation in 60,706 humans

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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