GeorgeAlfredDiazMDPhD

PubMed

• 3 citations
  One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
  George A Diaz, Simon A Jones, Maurizio Scarpa, Karl Eugen Mengel, Roberto Giugliani, Nathalie Guffon, Isabela Batsu, Patricia A Fraser, Jing Li, Qi Zhang, Catherine Or...> ;Genetics in Medicine. 2022 Oct 1
• Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
  Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless ...> ;Journal of inherited metabolic disease.
• Released on a WHIM.
  Diaz GA> ;Blood.
• Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.
  Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA> ;American journal of human genetics.
• 15 citations
  Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
  Eli Hershkovitz, George A. Diaz, Rafael Gorodischer> ;Journal of Pediatric Endocrinology & Metabolism. 2004 Dec 1
• 9 citations
  Genomic organization and sequence variation of the human integrin subunit α8 gene (ITGA8)
  George A. Diaz, Christopher S. Carlson, Tomonobu Hasegawa, Ram Samudrala, Kim Chew Lim, Julie M. Yabu, Brynn Levy, Lynn M. Schnapp> ;Matrix Biology. 2004 Nov 1
• 63 citations
  Effects of dopamine D2 receptor (DRD2) and transporter (SLC6A3) polymorphisms on smoking cue-induced cigarette craving among African-American smokers.
  Joel Erblich, Caryn Lerman, George A. Diaz, Dana H. Bovbjerg> ;Molecular Psychiatry. 2005 Apr 1
• Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.
  Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA> ;Developmental biology.
• 50 citations
  Stress-induced cigarette craving: effects of the DRD2 TaqI RFLP and SLC6A3 VNTR polymorphisms.
  Joel Erblich, Caryn Lerman, George A. Diaz, Dana H. Bovbjerg> ;The Pharmacogenomics Journal. 2004 Jan 1
• Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
  Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA> ;Nature genetics.
• 65 citations
  Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in...
  Kimihiko Oishi, George A. Diaz, Tartania Brown, Deepa Manwani, Lily Ng, Randy Young, Helen Vlassara, Yiannis A. Ioannou, Douglas Forrest, Bruce D. Gelb> ;Human Molecular Genetics. 2002 Nov 1
• Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.
  Oishi K, Hirai T, Gelb BD, Diaz GA> ;Molecular genetics and metabolism.
• Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells.
  Zhao R, Gao F, Wang Y, Diaz GA, Gelb BD, Goldman ID> ;The Journal of biological chemistry.
• 180 citations
  Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
  Masahiko Satoda, George A. Diaz, John Burn, Judith A. Goodship, H. R. Davidson, Mary Ella M Pierpont, Bruce D. Gelb> ;Nature Genetics. 2000 May 1
• WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies.
  Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR> ;American journal of medical genetics.
• Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
  Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD> ;Nature genetics.
• Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
  Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M> ;American journal of medical genetics.
• 40 citations
  Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21
  Masahiko Satoda, George A. Diaz, Renee A. Bornemeier, Bruce D. Gelb> ;Circulation. 1999 Jun 15
• Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23.
  Banikazemi M, Diaz GA, Vossough P, Jalali M, Desnick RJ, Gelb BD> ;Molecular genetics and metabolism.
• The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
  Diaz GA, Khan KT, Gelb BD> ;Genomics.
• The stability of abortively cycling T7 RNA polymerase complexes depends upon template conformation.
  Diaz GA, Rong M, McAllister WT, Durbin RK> ;Biochemistry.
• T7 RNA polymerase mutants with altered promoter specificities.
  Raskin CA, Diaz GA, McAllister WT> ;Proceedings of the National Academy of Sciences of the United States of America.
• Hierarchy of base-pair preference in the binding domain of the bacteriophage T7 promoter.
  Diaz GA, Raskin CA, McAllister WT> ;Journal of molecular biology.
• 4 citations
  The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
  Monisha Sebastin, Jacqueline A Odgis, Sabrina A Suckiel, Katherine E Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R Kelly, Michelle A Ramos, Jessica ...> ;Pilot and Feasibility Studies. 2023 Mar 22
• 7 citations
  Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
  Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie...> ;Medrxiv. 2023 Mar 20
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Journal Articles

• Glutamine and Hyperammonemic Crises in Patients with Urea Cycle Disorders  
  Lee B, Diaz GA, Rhead WR, et al, Mol Genet Metab, 1/1/2016
• Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project  
  Linderman MD, Sanderson SC, Sukiel SA, et al, Eur J Hum Genet, 1/1/2016
• Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate  
  Hook D, Diaz GA, Lee B, et al, Mol Genet Metab Rep, 1/1/2016
• Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss  
  Webb BD, Wheeler PG, Hagen JJ, et al, Hum Mutat, 1/1/2015
• Blood ammonia and glutamine as predictors of hyperammonemic crises in urea cycle disorder patients  
  Lee B, Diaz GA, Rhead WR, et al, Genet in Med, 1/1/2015
• Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials  
  Nagamani SC, Diaz GA, Rhead W, et al, Mol Genet Metab, 1/1/2015
• Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency  
  Wasserstein MP, Jones SA, Soran H, et al, Mol Genet Metab, 1/1/2015
• Preparing the next generation of genomicists: a laboratory-style course in medical genomics  
  Linderman MD, Bashir A, Diaz GA, et al, BMC Med Genomics, 1/1/2015
• Human Recombinant Arginase Enzyme Reduces Plasma Arginine in Mouse Models of Arginase Deficiency  
  Burrage LC, Sun Q, Elsea SH, et al, Hum Mol Genet, 1/1/2015
• How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study  
  Sanderson SC, Linderman MD, Zinberg R, et al, Genet in Med, 1/1/2015
• ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories  
  Wang J, Liao J, Zhang J, et al, Genome Med, 1/1/2015
• Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance  
  Weisfeld-Adams JD, McCourt EA, Diaz GA, et al, Mol Genet Metab, 1/1/2015
• A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population  
  Webb BD, Brandt T, Liu L, et al, Clin Genet, 1/1/2014
• Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency  
  Mc Guire P, Tarasenko TN, Wang T, et al, Dis Model Mech, 1/1/2014
• Glycerol Phenylbutyrate Treatment in Children with Urea Cycle Disorders: Pooled Analysis of Short and Long-term Ammonia Control and Outcomes  
  Berry SA, Lichter-Konecki U, Diaz GA, et al, Mol Genet Metab, 1/1/2014
• Exome-wide genotyping identifies new rare and low-frequency coding variants associated with hematological traits  
  Auer PL, Teumer A, Schick U, et al, Nat Genet, 1/1/2014
• A longitudinal study of urea cycle disorders  
  Batshaw ML, Tuchman M, Summar M, et al, Mol Genet Metab, 1/1/2014
• Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders  
  Burrage LC, Jain M, Gandolfo L, et al, Mol Genet Metab, 1/1/2014
• Glycerol phenylbutyrate for the chronic management of urea cycle disorders  
  Oishi K and Diaz GA, Expert Rev Endocrin Metab, 1/1/2014
• Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ  
  Ah Mew N, Krivitzky L, McCarter R, et al, J Pediatr, 1/1/2013
• Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders (UCDs); Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate  
  W Smith, GA Diaz, U Lichter-Konecki, SA Berry, et al, J Pediatrics, 1/1/2013
• Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult ...  
  Monteleone JP, Mokhtarani M, Diaz GA, et al, J Clin Pharmacol, 1/1/2013
• Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin c type  
  Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, et al, Mol Genet Metab, 1/1/2013
• Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on th...  
  Mokhtarani M, Diaz GA, Rhead W, et al, Mol Genet Metab, 1/1/2013
• Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: A Longitudinal Cohort Study  
  Sanderson SC, Linderman M, Kasarskis A, et al, Genome Med, 1/1/2013
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Books/Book Chapters

• Hyperammonemia 
  Chapter: New Treatment Options for Hyperammonemia 
  Diaz GAEditors: Haberle J.Future Medicine Ltd., London, United Kingdom2014
• Molecular Genetic Pathology 
  Chapter: Biochemical Genetics and Inborn Errors of Metabolism 
  Yu C, Wasserstein MP, Diaz GAEditors: Cheng L and Zhang DY.Springer Science and Business Media, New York, NYEdition 2nd,2014
• Primary Immunodeficiency Diseases 
  Chapter: WHIM Syndrome 
  Diaz GAEditors: Ochs HD et al.Oxford University Press, New York, NYEdition 3rd,2013
• Fetal and Neonatal Physiology 
  Chapter: Advances in Molecular Genetics: Clinical and Developmental Implications 
  Diaz GA and Hirschhorn KEditors: Polin RA et al.Elsevier Science, Philadelphia, PAEdition 3rd,2011
• Inborn Errors of Development 
  Chapter: Mutation of TBCE in the syndrome of hypoparathyroidism- retardation-dysmorphism (HRD) 
  Diaz GA, Parvari R, Hershkovitz EEditors: Epstein CJ, Erickson RJ, Wynshaw-Boris A.Oxford University Press USA, New York, NY2007
• Thiamine: Catalytic Mechanisms and Role in Normal and Disease States 
  Chapter: Thiamin-responsive megaloblastic anemia syndrome: Clinical aspects and molecular genetics 
  Oishi K, Diaz GA, Gelb BDEditors: Jordan F, Patel MC.Marcel Dekker, New York, NY2003
• National Organization of Rare Diseases: The NORD Guide to Rare Disorders 
  Chapter: Kenny-Caffey Syndrome 
  Diaz GALippincott, Williams & Wilkins, Philadelphia, PA2002
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Lectures

• Urinary phenylacetylglutamine (U-PAGN) concentration as an adherence biomarker for patients with urea cycle disorders (UCDs) treated with glycerol phenylbutyrate (GPB). 
  1/1/2015
• The Metabolic Emergency: Acute Presentations of Inborn Errors of Metabolism 
  Brooklyn Hospital Center, New York, NY, 2006, 2008, 2010, 2015 - 1/1/2015
• Age Is No Barrier: Time to Consider Late-Onset UCDs 
  Salt Lake City, UT - 1/1/2015
• Genetics Basics and Overview of New Technologies 
  Beth Israel Hospital, New York, NY - 1/1/2015
• Metabolic Emergencies 
  Englewood Hospital Medical Center, Englewood, NJ - 1/1/2015
• Treatment-Related Signs And Symptoms Among Patients With Urea Cycle Disorders (UCDs) During Treatment With Sodium Phenylbutyrate (NaPBA) And Glycerol Phenylbutyrate (G... 
  1/1/2014
• The Role Of Inflammation And Oxidative Damage In Brain Injury During Metabolic Decompensation. 
  1/1/2014
• Genetic Testing for the Pediatrician 
  Brooklyn Hospital Center, Brooklyn, NY - 1/1/2014
• Genetic Testing for the Practitioner: The Old and the New 
  Mount Sinai Medical Center, New York, NY - 1/1/2014
• Simulated dosing of glycerol phenylbutyrate (GBP) and sodium phenylbutyrate (NaPBA) predicts systemic phenylacetic exposure in adult and pediatric patients with urea c... 
  1/1/2013
• The plasma ratio of phenylacetic acid (PAA) to phenylacetylglutamine (PAGN): a potential biomarker for patients at risk of elevated PAA levels. 
  1/1/2013
• Ammonia (NH3) amino acid and hyperammonemic crises (HACs) in pediatric and adult patients with urea cycle disorders (UCDs) during dosing with sodium phenylbutyrate (Na... 
  1/1/2013
• The Hyperammonemic Child: Update on Urea Cycle Disorders 
  Stony Brook Medical Center, Stony Brook, NY - 1/1/2013
• Medical Advances in Urea Cycle Disorders 
  Phoenix, AZ - 1/1/2013
• Combined methylmalonic acidemia and homocystinuria, cblC type: a prospective clinical protocol focusing on neurologic and neurodevelopmental parameters in a cohort of ... 
  1/1/2012
• Ammonia (NH3) control and improved neurocognitive outcome among urea cycle disorder (UCD) patients treated with glycerol phenylbutyrate (GPB). 
  1/1/2012
• Ammonia (NH3) Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders (UCDs); Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate. 
  1/1/2012
• Urinary phenylacetylglutamine appears to be a more useful marker than metabolite blood levels for therapeutic monitoring of phenylacetic acid (PAA) prodrugs. 
  1/1/2012
• Ammonia control and improved neurocognitive outcome among urea cycle disorder (UCD) patients treated with glycerol phenylbutyrate (GPB). 
  1/1/2012
• Prolonged QTc in isolated methylmalonic acidemia. 
  1/1/2012
• Plasma metabolite profiles in eleven children diagnosed with combined methylmalonic acidemia and homocystinuria, Cobalamin C type, on newborn screening and treated sin... 
  1/1/2012
• Population PK analysis of glycerol phenylbutyrate (GPB) and sodium phenylbutyrate (NAPBA) in adult and pediatric patients with urea cycle disorders (UCD). 
  1/1/2012
• Hematopoietic stem cell transplantation in a patient with WHIM Syndrome and pancytopenia. 
  1/1/2012
• Treatment of N-acetylglutamate synthetase deficiency with carglumic acid (Carbaglu). 
  1/1/2012
• Cytokine depression of urea cycle function: A focus on ornithine transcarbamylase. 
  1/1/2012
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Other

• Thiamine-Responsive Megaloblastic Anemia Syndrome 
  Oishi K, Diaz GA, GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, Univer
  http://www.genetests.org
  1/1/2010