Kristy Lee, CGC, MS — Challenges in Interpretation & Explanation of Exome Sequencing (SERN/SERGG 2015)
Ms. Kristy Lee presents, Challenges in Interpretation & Explanation of Exome Sequencing.
Nicholas Katsanis, PhD — Modeling Structural Defects in Neonates and Young Children (SERN/SERGG 2015)
Dr. Katsanis presents Modeling Structural Defects in Neonates and Young Children.
Sarah Young, PhD — Diagnosing Creatine Deficiency Syndromes (SERN/SERGG 2015)
Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.
Barbara Marriage, RD, PhD — Nutritional Interventions in Mitochondrial Disorders (SERN/SERGG 2015)
Dr. Marriage presents Nutritional Interventions in Mitochondrial Disorders.
Patrick Seed, MD, PhD — Our Microbiome: Gaining Genomes as We Grow Up (SERN/SERGG 2015)
Dr. Seed presents Our Microbiome: Gaining Genomes as We Grow Up.
William Wilcox, MD, PhD — Pompe Roundtable Discussion (SERN/SERGG 2015)
Dr. Wilcox moderates a panel discussion comprised of Dr. Deeksha Bali, Ms. Andrea Atherton, and Ms. Emily Lisi.
Alex Kemper, MD, MS, MPH — Newborn Screening for MPS I: Evidence and Rationale (SERN/SERGG 2015)
Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.
Cynthia Powell, MD, MS — Genomics and Newborn Screening (SERN/SERGG 2015)
Dr. Powell presents Genomics and Newborn Screening.
Andrea Atherton, CGC, MS — Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience (SERN/SERGG 2015)
Ms. Andrea Atherton presents Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience.
Deeksha Bali, PhD, FACMG — Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory (SERN/SERGG 2015)
Dr. Bali presents Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory.