Pharmacology and Toxicology 2012 Research
Pharmacology and Toxicology 2012 Research

Peer-Reviewed Articles

Abdel-Rahman S, Ridge A. Validation of an Improved Pediatric Weight Estimation Strategy. Open Medical Devices: 87-97 (2012)

Abdel-Rahman SM, Amidon GL, Kaul A, Lukacova V, Vinks AA, Knipp GT. Summary of the National Institute of Child Health and Human Development-best Pharmaceuticals for Children Act Pediatric Formulation Initiatives Workshop-Pediatric Biopharmaceutics Classification System Working Group. Clin Ther 34:S11-S24 (2012) Funded by NICHD

Abdel-Rahman SM, Preuett BL. Genetic Predictors of Susceptibility to Cutaneous Fungal Infections: A Pilot Genome Wide Association Study to Refine a Candidate Gene Search. J Dermatol Sci 67:147-152 (2012) Funded by NIH

Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Exome Sequencing Reveals a Pallidin Mutation in a Hermansky-Pudlak-like Primary Immunodeficiency Syndrome. Blood 119:3185-3187 (2012) Funded by NIH

Bass JA, Goldman J, Jackson MA, Gasior AC, Sharp SW, Drews AA, Saunders CJ, St Peter SD. Pediatric Crohn Disease Presenting as Appendicitis: Differentiating Features from Typical Appendicitis. Eur J Pediatr Surg 22:274-278 (2012)

Becker ML. Optimization of Pediatric Rheumatology Therapeutics. Clin Pharmacol Ther 91:597-606 (2012)

Becker ML. Pharmacogenomics in Pediatric Rheumatology. Curr Opin Rheumatol 24:541-547 (2012)

Becker ML, van Haandel L, Gaedigk R, Thomas B, Hoeltzel MF, Lasky A, Dai H, Stobaugh J, Leeder JS. Red Blood Cell Folate Concentrations and Polyglutamate Distribution in Juvenile Arthritis: Predictors of Folate Variability. Pharmacogenet Genomics 22:236-246 (2012)

Bi C. Memetic Algorithms for De Novo Motif-finding in Biomedical Sequences. Artif Intell Med 56:1-17 (2012)

Calello DP, Marcus SM, Lowry J. 2010 Pediatric Fatality Review of the National Poison Center Database: Results and Recommendations. Clin Toxicol (Phila) 50:25-6 (2012)

Clement A, Raney JJ, Wasserman GS, Lowry JA. Chronic Amitriptyline Overdose in a Child. 50(5):431-434 Clin Toxicol (Phila) (2012) 

Crews KR, Gaedigk A, Dunnenberger HM, Klein TE, Shen DD, Callaghan JT, Kharasch ED, Skaar TC. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Codeine Therapy in the Context of Cytochrome P450 2D6 (CYP2D6) Genotype. Clin Pharmacol Ther 91:321-326 (2012) Funded by NIH

Dinwiddie D, Miller N, Saunders C, Soden S, Farrow E, Hobson G, Kingsmore S. Exome Sequencing Reveals Cause of Hypomyelinating Leukodystrophy. J of Genomes and Exomes 1: 7-14 (2012)

Fine JS, Calello DP, Marcus SM, Lowry JA. 2011 Pediatric Fatality Review of the National Poison Center Database. Clin Toxicol (Phila) 50:872-874 (2012)

Flatt T, Neville K, Lewing K, Dalal J. Successful Treatment of Fanconi Anemia and T-cell Acute Lymphoblastic Leukemia. Case Report Hematol :396395 (2012)

Funk RS, Brown JT, Abdel-Rahman SM. Pediatric Pharmacokinetics: Human Development and Drug Disposition. Pediatr Clin North Am 59:1001-1016 (2012)

Funk RS, Krise JP. Cationic Amphiphilic Drugs Cause a Marked Expansion of Apparent Lysosomal Volume: Implications for an Intracellular Distribution-based Drug Interaction. Mol Pharm 9(5):1384-1395 (2012) Funded by NIH

Gaedigk A, Twist GP, Leeder JS. CYP2D6, SULT1A1 and UGT2B17 Copy Number Variation: Quantitative Detection by Multiplex PCR. Pharmacogenomics 13:91-111 (2012)

Goldman J, Davis HZ, H, Kearns G. Infliximab Clearance in Children: Potential Association with Resting Energy Expenditure. Ann Paediatr Rheum 1:120-125 (2012)

Goldman JL, Nopper AJ, Myers AL. Picture of the Month. Quiz Case. Erythema Ab Igne. Arch Pediatr Adolesc Med 166:185-186 (2012)

Hudak ML, Tan RC, Neville K. Neonatal Drug Withdrawal. Pediatrics 129:e540-560 (2012)

James LP, Chiew A, Abdel-Rahman SM, Letzig L, Graudins A, Day P, Roberts D. Acetaminophen Protein Adduct Formation Following Low-dose Acetaminophen Exposure: Comparison of Immediate-release vs Extended-release Formulations. Eur J Clin Pharmacol 69(4):851-857 (2012) Funded in part by National Institute for Diabetes & Digestive & Kidney Diseases

Leeder JS, Kearns GL. Interpreting Pharmacogenetic Data in the Developing Neonate: The Challenge of Hitting a Moving Target. Clin Pharmacol Ther 92:434-436 (2012)

Li D, Gaedigk R, Hart SN, Leeder JS, Zhong XB. The Role of CYP3A4 mRNA Transcript with Shortened 3'-untranslated Region in Hepatocyte Differentiation, Liver Development, and Response to Drug Induction. Mol Pharmacol 81:86-96 (2012) Funded by NIH

Li SC, Torok KS, Pope E, Dedeoglu F, Hong S, Jacobe HT, Rabinovich CE, Laxer RM, Higgins GC, Ferguson PJ, Lasky A, Baszis K, Becker M, Campillo S, Cartwright V, Cidon M, Inman CJ, Jerath R, O'Neil KM, Vora S, Zeft A, Wallace CA, Ilowite NT, Fuhlbrigge RC. Development of Consensus Treatment Plans for Juvenile Localized Scleroderma: A Roadmap Toward Ccomparative Effectiveness Studies in Juvenile Localized Scleroderma. Arthritis Care Res (Hoboken) 64:1175-1185 (2012) Funded by NIH

Logan R, Funk RS, Axcell E, Krise JP. Drug-interactions Involving Lysosomes: Mechanisms and Potential Clinical Implications. Expert Opin Drug Metab Toxicol 8:943-958 (2012)

Mann A, Miksys SL, Gaedigk A, Kish SJ, Mash DC, Tyndale RF. The Neuroprotective Enzyme CYP2D6 Increases in the Brain with Age and is Lower in Parkinson's Disease Patients. Neurobiol Aging 33(9):2160-2171 (2012) Funded by The Canadian Institutes of Health Research

Manoli SE, Smith LA, Vyhlidal CA, An CH, Porrata Y, Cardoso WV, Baron RM, Haley KJ. Maternal Smoking and the Retinoid Pathway in the Developing Lung. Respir Res 13:42 (2012) Funded by NIH & FAMRI

Myers AL, Gaedigk A, Dai H, James LP, Jones BL, Neville KA. Defining Risk Factors for Red Man Syndrome in Children and Adults. Pediatr Infect Dis J 31:464-468 (2012) Funded by Pediatric Pharmacology Research Unit Network

Patel D, Cook N, Newell B, Becker M. National Behçet's Disease in the Setting of Presumed Maternal MAGIC Syndrome. Pediatric Dermatology (2012)

Ramamoorthy A, Li L, Gaedigk A, Bradford LD, Benson EA, Flockhart DA, Skaar TC. In Silico and In Vitro Identification of MicroRNAs that Regulate Hepatic Nuclear Factor 4alpha Expression. Drug Metab Dispos 40:726-733 (2012) Funded by NIH

Sim SC, Daly AK, Gaedigk A. CYP2D6 Update: Revised Nomenclature for CYP2D7/2D6 Hybrid Genes. Pharmacogenet Genomics 22:692-694 (2012)

Soden S, Saunders C, Dinwiddie D, Miller N, Atherton A, Abu Alnadi N, Leeder J, Smith L, Kingsmore S. A Systematic Approach to Implementing Monogenic Genomic Medicine: Genotype-driven Diagnosis of Genetic Diseases. J Genomes and Exomes 15-24 (2012) Funded by NIH

Thorn CF, Whirl-Carrillo M, Leeder JS, Klein TE, Altman RB. PharmGKB Summary: Phenytoin Pathway. Pharmacogenet Genomics 22:466-470 (2012) Funded by NIH

van Haandel L, Becker ML, Williams TD, Stobaugh JF, Leeder JS. Comprehensive Quantitative Measurement of Folate Polyglutamates in Human Erythrocytes by Ion Pairing Ultra-Performance Liquid Chromatography/Tandem Mass Spectrometry. Rapid Commun Mass. Spectrom 26:1617-1630 (2012)

Wagner J, Leeder JS. Pediatric Pharmacogenomics: A Systematic Assessment of Ontogeny and Genetic Variation to Guide the Design of Statin Studies in Children. Pediatr Clin North Am. 59:1017-1037 (2012)

Book or Book Chapters

Christian M, Bryant S. Antidepressants and Antipsychotics, in Emergency Medicine. Adams J, Barton E, Collings J, DeBlieux P, Gisondi M,Nadel E (eds.), 2nd Edition, Elsevier, Philadelphia, PA, pp.1257-65 (2012)

Gaedigk A. Genetic Concepts of Pharmacogenomics: Basic Review of DNA, Genes, Polymorphisms, Haplotypes and Nomenclature, Chapter 2, in Textbook of Pharmacogenomics: an Introduction and Clinical Perspective. Bertino J, Kashuba A, Ma J, Fuhr U,DeVane C (eds.), The McGraw-Hill Companies, New York, NY, pp.9-21 (2012)

Gaedigk A, Yang X. Analytical Methods to Identify Genetic Variations and Bioinformatics, Chapter 3, in Textbook of Pharmacogenomics: an Introduction and Clinical Perspective. Bertino J, Kashuba A, Ma J, Fuhr U,DeVane C (eds.), The McGraw-Hill Companies, New York, NY, pp.21-36 (2012)

Goldman J, Abdel-Rahman S. Section III: Tinea Capitis, in Curbside Consultation in Pediatric Infectious disease: 49 Clinical Questions. Myers A (ed.), 1st Edition, Slack Inc, Thorofare, NJ, pp.41-52 (2012)

Jones B, Van Den Anker G, Kearns G. Pediatric Clinical Pharmacology and Therapeutics, Chapter 25, in Principles of Clinical Pharmacology. Atkinson A, Huang S, Lertora J,Markey S (eds.), 3rd Edition, Elsevier Inc, pp.417-436 (2012)

Lowry J, Leeder J. Application of Pharmacogenetics and Pharmacogenomics in Pediatrics: What Makes Children Different?, in Principles of Pharmacogenetics and Pharmacogenomics. Altman RB, Flockhart D, and Goldstein DB (eds.), Cambridge University Press, New York, NY, pp.249-262 (2012)

Scientific Presentations-Oral or Poster Format

Abdel-Rahman S "Where We Go Wrong in the Design of Pediatric PK Trials" Vertex Pharmaceuticals, Inc., Cambridge MA, June 2012 [Oral]

Abdel-Rahman SM "Drug Absorption in Children: Considerations for Formulation Development" Vertex Pharmaceuticals, Inc., Cambridge MA, June 2012 [Oral]

Abdel-Rahman S "Developmental DME: Where the Drugs Go and How They Leave" Vertex Pharmaceuticals, Inc., Cambridge MA, June 2012 [Oral]

Abdel-Rahman S "Drug Absorption and Distribution: How Drugs Get in and Where They Go" NICHD Principles of Pediatric Clinical Pharmacology Course Webinar, Webinar, October 2012 [Oral]

Abdel-Rahman S. "Pediatric Clinical Trials: Avoiding the Problems and Pitfalls" Allergy (COLA), Webinar, October 2012 [Oral]

Abdel-Rahman S. "Population based Studies of Tinea Capitis: How We Can (and why we must) Use This Information to Guide the Design of Efficacy Trials" National Institutes of Health 2012 BPCA Annual Meeting, Rockville, MD, December 2012 [Oral]

Abdel-Rahman S "An Improved Pediatric Weight Estimation Strategy" 2012 American Academy of Pediatrics National Conference and Exhibition, New Orleans LA, October 2012 [Poster]

Becker ML "Reliability of Scoring a Disease Damage Measure for Juvenile Localized Scleroderma " American College of Rheumatology Annual Meeting, Washington DC, November 2012 [Poster]

Becker ML "Initial Evaluation of a Localized Scleroderma (LS) Clinical Activity Measure " American College of Rheumatology Annual Meeting, WashingtonDC, November 2012 [Poster]

Berard A, Karam F, Sheehy O, Huneau M, Blais L, Briggs G, Chambers C, Einarson A, Fraser W, Gaedigk A, Johnson D, Kao K, Koren G, Martin B, Polifka J, Riordan S, Roth M, Trmblay R, Voyer Lavigne S, Wolfe L, Group OCR "Antidepressant Use During Pregnancy and the Risk of Neurodevelopmental Delay at 1-Year-Old-Results from the OTIS Antidepressants in Pregnancy Study" International Society of Pharmacoepidemiology Meeting, Barcelona Spain, August 2012 [Poster]

Berard A, Karam F, Sheehy O, Huneau M, Blais L, Briggs G, Chambers C, Einarson A, Fraser W, Gaedigk A, Johnson D, Kao K, Koren G, Martin B, Polifka J, Riordan S, Roth M, Trmblay R, Voyer Lavigne S, Wolfe L, Group OCR. "Antidepressant Use During Pregnancy and the Rist of Neurodevelopment Delay at 1-Year-Old-Results from the OTIS Antidepressants in Pregnancy Study" 2012 Teratology Society Meeting, Baltimore MD, June 2012 [Poster]

Bi C, Leeder J "Large-Scale Computation of Pediatric Growth Percentiles with Fuzzy Logic Justification of Parameter Selection" 2012 IEEE Computational Intelligence Symposium on Bioinformatics & Computational Biology, San Diego CA, May 2012 [Poster]

Bracken J, Dinwiddie D, Christenson K, Roberts C, Saunders C, Soden S, Miller N, KIngsmore S "Compound Heterozygous IL10RA Mutations in Brothers with Very Early Onset Inflammatory Bowel Disease" Advances in Inflammatory Bowel Disease: Crohn's & Colitis Foundation's Clinical & Research Conference, Hollywood FL, December 2012 [Poster]

Chhabra D, Kho A, Sharma S, Gaedigk R, Leeder J, Weiss S, Tantisira K "Differential Expression of BPD Genes in Lung Development" American Thoracic Society International Conference, San Francisco CA, May 2012 [Poster]

Christian M "Lipid Rescue 911: A Survey of Poison Center Medical Directors Regarding Intravenous Fat Emulsion Therapy" 2012 Society for Academic Emergency Medicine Annual Meeting, Chicago IL, May 2012 [Oral]

Christian M "The Sixth Vital Sign: Utilization of a Statewide Prescription Monitoring Program at Triage and the Effects on Emergency Medicine Prescribing Practices" 10th Annual American College of Medical Toxicology Spring Conference, San Diego CA, March 2012 [Oral]

Christian M, Sergel M, AKS S, Mycyk M "Comparison of High-Fidelity Medical Simulation to Short-Answer Written Examination in the Assessment of Emergency Medicine Residents in Medical Toxicology" 2012 Annual Meeting of the North American Congress of Clinical Toxicology, Las Vegas NV, October 2012 [Poster]

Dasouki M, Soden S, Saunders C, Dinwiddie D, Miller N, Kingsmore S "Exome Sequencing Reveals a Novel de novo GNAS Gene Mutation in a Boy with Usual Presentation of Pseudohypoparathyroidism" American Society of Human Genetics Meeting, San Francisco CA, November 2012 [Poster]

Dinwiddie D "Clinical Use of Next Generation Sequencing in a Children's Hospital" University of New Mexico, Clinical Translational Science Center, Albuquerque NM, November 2012 [Oral]

Dinwiddie D "STAT-Seq: Rapid WGS on the HiSeq 2500-Implications for a Neonatal Intensive Care Unit" American Society of Human Genetics Annual Meeting: Illumina Clinical NGS Workshop, San Francisco CA, November 2012 [Oral]

Dinwiddie D "Rapid Whole Genome Sequencing: From DNA to Diagnosis in 50 Hours" PerkinElmer Revolutionaries for Global Health Summit, San FranciscoCA, October 2012 [Oral]

Dinwiddie D "Implementing Genomic Medicine in a Children's Hospital" National Center for Genome Resources, Santa Fe NM, October 2012 [Oral]

Dinwiddie D "Implementing Genomic Medicine for Monogenic Disease Diagnosis in a Children's Hospital" Translational Science Research Seminar Series, Nemours/Alfred I. DuPont Hospital for Children, Wilmington DE, September 2012 [Oral]

Dinwiddie D "Utility of Genomice Medicine in Disease Diagnosis at a Children's Hospital" Children's Hospital of Philadelphia, Philadelphia PA, September 2012 [Oral]

Dinwiddie D "Implementing Genomic Medicine in a Children's Hospital" University of New Mexico, Clinical Translational Science Center, Albuquerque NM, September 2012 [Oral]

Dinwiddie D "Implementing Genomic Medicine in a Children's Hospital" Marshfield Clinic, Marshfield WI, August 2012 [Oral]

Dinwiddie D "STATseq: Whole Genome Sequencing in 50 Hours for Monogenic Disease Diagnosis" PerkinElmer Revolutionaries for Global Health Summit, Newton MA, June 2012 [Oral]

Dinwiddie D, Miller N, Dinwiddie, Soden S, Farrow E, Hobson G, Kingsmore S "Exome Sequencing Reveals Cause of Hypomyelinating Leukodystrophy" American Socety of Human Genetics Meeting, San Francisco CA, November 2012 [Poster]

Dinwiddie D, Soden S, Saunders C, Miller N, Kingsmore S "Initial Clinical Experience with Molecular Testing for >600 Severe Chidhood Diseases by Target Enrichment and Next-Generation Sequencing" Advances in Genome Biology and Technology, Marco Island FL, February 2012 [Oral]

Dinwiddie DL "Clinical Experience with Molecular Testing for Severe Chidlhood Diseases by Illumina Next-Generation Sequencing" Washington University School of Medicine, St. LouisMO, March 2012 [Oral]

Dinwiddie DL, Saunders CJ, Smith LD, Atherton A, Soden SE, Miller NA, Kingsmore SF "Exome Sequencing in Two Sisters with Cerebellar Ataxia Revealing Homozygous APTX Mutation" American College of Medical Genetics Annual Clinical Genetics Meeting, Charlotte NC, March 2012 [Poster]

Funk R, Van Haandel L "Low-dose Methotrexate and the Selective Accumulation of Intracellular Aminoimidazolecarboxamide Ribotide" American College of Rheumatology National Meeting, Washington DC, November 2012 [Poster]

Funk R, van Haandel L, Becker ML, Leeder JS "Low-dose methotrexate and the selective accumulation of intracellular aminoimidazolecarboxamide ribotide " American College of Rheumatology Annual Meeting, Washington DC, November 2012 [Poster]

Gaedigk A "Complexity of CYP2D6 Genotype-Phenotype Relationships" University of Toronto, Toronto ,Ontario, Canada, April 2012 [Oral]

Gaedigk A "Allelic Variation of CYP2D6: Challenges for Genotyping and Phenotype Predicition" Expert Consensus and Guidelines for CYP2D6 Metabolizer Status Classification in Psychiatric Research and Clinical Practice, Center for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada, April 2012 [Oral]

Gaedigk A "Complexity of CYP2D6 Genotype-Phenotype Relationships: A Pediatric Perspective" Hospital for Sick Children, Toronto, Ontario, Canada, May 2012 [Oral]

Gaedigk A "Pharmacogenetics, Genomics and Personalized Medicine" Lecture for CLS 730 Current Issues in Biotechnology, KU Medical Center, Kansas City KS, October 2012 [Oral]

Goldman J, Carpenter S, Sherman A, Bell J, Selvarangan R "Bacterial Virulence Factors Associated with Deep Vein Thrombosis in Pediatric Patients with Staphyloccocus aureus infections" Annual Meeting of Pediatric Academic Societies, Boston MA, April 2012 [Oral]

Goldman J, Stach L, Mroczka K, Williams D, De Lurgio S, Mann K, Myers A "Utilization of Vancomycin Serum Concentrations in the Hospitalized Pediatric Patient" Annual Meeting of the Infectious Diseases Society of America, San Diego CA, October 2012 [Poster]

Jones B "Inter-Individual Variability in Cutaneous Histamine Response Phenotype" Pediatric Pharmacogenomics and Personalized Medicine Conference, Kansas City MO, March 2012 [Oral]

Jones B "Post-Fellowship Realities" 2012 Annual Meeting of the American Academy of Allergy, Asthma, & Immunology, March 2012, [Oral]

Jones B, Sherwin C, Neville K, Spigarelli M, Kearns G, Leeder J "Evidence of Distinct Histamine Pharmacodynamic Phenotypes in Children" 2012 Annual Meeting of the American Society Clinical Pharmacology Therapeutics, Washington DC, March 2012 [Poster]

Leeder J "Pharmacogenetics of Drug Disposition and Response in Children: Implications for Drug Development" American Association of Pharmaceutics Scientists Kansas City Discussion Group, Overland Park KS, November 2012 [Oral]

Leeder J "Personalized Medicine: Genomes and Genetics" 15th Annual Heartland Association for Research Professionals Conference, Overland Park KS, October 2012 [Oral]

Leeder J "Pharmacogenomics and Implications for Drug Effects in Children" American College of Clinical Pharmacology 2012 Annual Meeting, San Diego CA, September 2012 [Oral]

Leeder J "Carbamazepine Hypersensitivity: From Bioactivation to B*1502" Drug Information Association 48th Annual Meeting, Philadelphia PA, June 2012 [Oral]

Lin Y, Tay J, Thummel K, Beyer D, Bammler T, Pearce R, Bi C, Ahlers N, Wright K, Gaedigk A, Leeder J "Identifying CYP2D6 Endogenous Biomarkers Using Metabolomics" 2012 Annual Pediatric Pharmacogenomics and Personalized Medicine, Kansas City MO, March 2012 [Poster]

Mayer A, Kim M, Ray G, Abdel-Rahman S, Liu Y "Dried Blood Spot Analysis for Therapeutic Drug Monitoring of Rifampin to Optimize Tuberculosis Treatment in Children" 60th American Society for Mass Spectrometry Conference, Vancouver, British Columbia, Canada, May 2012 [Poster]

Mehta P, Christian M, Kanter M "Coagulopathy After Accidental Pediatric Rivaroxaban Ingestion" 2012 Annual Meeting of the North American Congress of Clinical Toxicology, Las Vegas NV, October 2012 [Poster]

Ramamoorthy A, Liu Y, Goswami C, Phillips S, Gaedigk A, Flockhart D, Desta Z, Skaar T "Global Analysis of Rifampin-regulated mRNA and miRNA Gene Expression in Primary Human Hepatocytes" ASCPT, Washington DC, March 2012 [Poster]

Saunders C, Dinwiddie D, Soden S, Farrow E, Miller N, Kingsmore S "Identification of BCL9L as a Novel Heterotaxy Gene by Whole Genome Sequencing of a Quartet" Association of Molecular Pathology Annual Meeting on Genomic Medicine, Long Beach CA, October 2012 [Poster]

Saunders CJ, Dinwiddie DL, Soden SE, Miller NA, Kingsmore SF "Next-generation sequencing-based test for 526 genes" American College of Medical Genetics Annual Clinical Genetics Meeting, CharlotteNC, March 2012 [Poster ]

Shakhnovich V "Tufting Enteropathy in a Caucasian Male Infant: A New Phenotype?" North American Society of Pediatric Gastroenterology Hapatology and Nutrition (NASPAGHAN), Salt Lake City UT, October 2012 [Poster]

Sharma S, Kho A, Haley K, Vyhlidal C, Gaedigk R, Kobzik L, Leeder J, Tantisira K, Weiss S "Differential Expression of Lung Function Genes by in utero Smoke Exposure During Human Lung Develoment" American Society of Human Genetics Annual Meeting, San Francisco CA, November 2012 [Poster]

Smith LD, Saunders CJ, Strenk M, Dinwiddie DL, Soden SE, Miller NA, Kingsmore SF "Exome Sequencing in Two Brothers Homozygous for a Mutation in the PYCR1 Gene Associated with Autosomal Recessive Cutis Laxa" American College of Medical Genetics Annual Clinical Genetics meeting, Charlotte NC, March 2012 [Poster]

Smith S, Christian M, Aks S "Prolonged, Severe Agitation and Rhabdomyolysis After Intravenous Injection of a Synthetic Cannabinoid" 2012 Annual Meeting of the North American Congress of Clinical Toxicology, Las Vegas, NV, October 6, 2012, [Poster]

Van Haandel L, Funk R, Ibarra M, Hoeltzel M, Lasky A, Dai H, Gaedigk R, Leeder J, Becker M "Degree of Initial Intracellular Folate Depletion May Predict Methotrexate Response in Juvenile Idiopathic Arthritis " American College of Rheumatology Annual Meeting, Washington DC, November 2012 [Oral]

Villanueva M, Saunders C, Zwick D, Smith L, Dinwiddie D, Farrow E, Miller N, Soden S, Kingsmore S, August K "An Unusual Presentation of Congenital Dyserythropoietic Anemia Type II (CDAII) Associated with Severe Anemia in a Patient with a Novel Mutation of the SEC23B gene" American Society of Hematology Annual Meeting, AtlantaGA, December 2012 [Poster]

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