Concepedia

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Slavé Petrovski, Vimla S. Aggarwal, Jessica L. Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,

The Lancet · 2019 · 605 citations · 25 references

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References

25

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

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