Curtis Rogers, MD — Finding Pearls in a Sea of Skeletal Dysplasias (SERN/SERGG 2016)
Dr. Rogers presents, “Finding Pearls in a Sea of Skeletal Dysplasias”
David Bick, MD — Whole Genome Sequencing – It’s Time Has Arrived (SERN/SERGG 2016)
Dr. Bick presents, “Whole Genome Sequencing – It’s Time Has Arrived”
Paideep Atwal, MD, FRCP (UK), FACMG — Clinical Metabolomic Profiling (SERN/SERGG 2016)
Dr. Atwal presents, “Clinical Metabolomic Profiling”
Celia Kaye, MD, PhD — RSSM Regional Collaborative Models (SERN/SERGG 2016)
Dr. Kaye presents, “RSSM Regional Collaborative Models”
Marzia Pasquali, PhD, FACMG — Newborn Screening for GAMT Deficiency: The Utah Experience (SERN/SERGG 2016)
Dr. Pasquali presents, “Newborn Screening for GAMT Deficiency: The Utah Experience”
Sarah Elsea, PhD, FACMG — Metabolomics for the Screening and Diagnosis of Rare Disease (SERN/SERGG 2016)
Dr. Elsea presents, “Metabolomics for the Screening and Diagnosis of Rare Disease”
Michael Watson, PhD, MS, FACMG — LTDs and the FDA (SERN/SERGG 2016)
Dr. Watson presents, “LTDs and the FDA”
Victor DeJesus, PhD — Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs (SERN/SERGG 2016)
Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”
Eva Morava, MD, PhD — ATP6AP1 Deficiency Causes Liver Disease and Immunodeficiency, Neurologic Symptoms and Abnormal Protein Glycosylation (SERN/SERGG 2016)
Dr. Morava presents, “ATP6AP1 Deficiency Causes Liver Disease and Immunodeficiency, Neurologic Symptoms and Abnormal Protein Glycosylation”
Nicola Longo, MD, PhD — Carnitine and Fatty Acid Oxidation (SERN/SERGG 2016)
Dr. Longo presents, “Carnitine and Fatty Acid Oxidation”
Alex Kemper, MD, MS, MPH — Considering Newborn Screening for X-linked Adrenoleukodystrophy (SERN/SERGG 2016)
Dr. Kemper presents “Considering Newborn Screening for X-linked Adrenoleukodystrophy”