Dr. George Diaz, MD

• Genetics

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• State University Of New York Downstate Health Sciences University College Of Medicine

  Medical School, 1994

• English

• Italian

• Preparing the next generation of genomicists: a laboratory-style course in medical genomics, 2015-08-12

• Glycerol Phenylbutyrate Treatment in Children with Urea Cycle Disorders: Pooled Analysis of Short and Long-term Ammonia Control and Outcomes, 2014-02-21

• BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS, 2014-12-11

• Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years, 2018-01-30

• Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium, 2010-02-10

• Novel, Compound Heterozygous, Single Nucleotide Variants inMARS2Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss, 2015-04-08

• Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice, 2022-09-02

• Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency, 2013-11-21

• The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children, 2021-01-14

• Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports, 2022-03-25

• B-helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen, 2011-12-25

• GenomeDiver: A platform for phenotype-guided medical genomic diagnosis., 2021-06-10

• A Founder Mutation inVPS11Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects, 2016-04-27

• Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders, 2020-12-23

• Phase 2 Comparison of A Novel Ammonia Scavenging Agent With Sodium Phenylbutyrate In Patients With Urea Cycle Disorders: Safety, Pharmacokinetics And Ammonia Control, 2010-03-23

• Genetic Predictors of Cue- and Stress-Induced Cigarette Craving: An Exploratory Study, 2011-09-12

• Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results, 2022-12-14

• Successful Within-patient Dose Escalation of Olipudase Alfa in Acid Sphingomyelinase Deficiency, 2015-05-30

• Self-Reported Treatment-Associated Symptoms among Patients with Urea Cycle Disorders Participating in Glycerol Phenylbutyrate Clinical Trials, 2015-08-05

• Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations inMT-ATP6, 2018-01-04

• Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children, 2021-02-16

• One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency, 2021-04-19

• Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project, 2017-01-04

• Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients, 2023-03-20

• The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing, 2023-03-22

• Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results, 2023-03-14

• ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories, 2015-07-29

• Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults, 2023-04-25

• Profiling of Oxidative Stress in Patients with Inborn Errors of Metabolism, 2009-06-14

• Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months, 2018-01-05

• Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study, 2013-12-30

• Rare and low-frequency coding variants inCXCR2and other genes are associated with hematological traits, 2014-04-28

• Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, perioperative management, 2016-06-21

• Platelet protein kinase C and brain-derived neurotrophic factor levels in borderline personality disorder patients, 2012-05-26

• Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte, 2009-09-27