Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects

Author:

Berisha Stela Z.1,Shetty Shashi12,Prior Thomas W.12,Mitchell Anna L.13ORCID

Affiliation:

1. Center for Human GeneticsUniversity Hospitals Cleveland Medical Center Cleveland Ohio

2. Department of PathologyCase Western Reserve University, University Hospitals Cleveland Ohio

3. Department of Genetics and Genome SciencesCase Western Reserve University, University Hospitals Cleveland Ohio

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Reference37 articles.

1. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

2. Diagnostic testing for prader‐willi and angelman syndromes: Report of the ashg/acmg test and technology transfer committee;American Society of Human Genetics/American College of Medical Genetics Test and Technology transfer Committee;American Journal of Human Genetics,1996

3. A global reference for human genetic variation

4. Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

5. Ethical Implications of Rapid Whole-Genome Sequencing in Neonates

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