In this issue, guest editors bring their considerable expertise to this important topic.
Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice.
Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
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Table of Contents
Genetics in Pediatric Practice: From Baby Steps to Running FastGenetics 101: When to Refer
Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey
Supporting Parents Throughout the Genetic Testing Process and New Diagnosis
Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics
Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I
Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease
Recognizing and Managing a Metabolic Crisis
Current Practices in Pharmacogenomics
Newborn Screening
Ethical Aspects of Pediatric Genetic Care: Testing and Treatment
Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam
