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Genomes and Genes | Wayne W GrodySummaryAffiliation: University of California Country: USA Publications
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Publications
Quest for controls in molecular geneticsWayne W Grody
Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, California 90095-1732, USA
J Mol Diagn 5:209-11. 2003
Ethical issues raised by genetic testing with oligonucleotide microarraysWayne W Grody
Divisions of Medical Genetics and Molecular Pathology, Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA, USA
Mol Biotechnol 23:127-38. 2003....- Molecular genetic risk screeningWayne W Grody
Department of Pathology, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
Annu Rev Med 54:473-90. 2003..This chapter reviews the basic criteria to be considered before embarking on population genetic risk screening, and examines multiple disease-screening examples representing a variety of modes of inheritance and technical challenges... - The Cystic Fibrosis mutation "arms race": when less is moreWayne W Grody
Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA
Genet Med 9:739-44. 2007 - Cystic fibrosis testing comes of ageWayne W Grody
Dept of Pathology and Laboratory Medicine, UCLA School of Medicine, 10833 Le Conte Ave, Los Angeles, CA 90095 1732
J Mol Diagn 11:173-5. 2009..This commentary summarizes the current state of the art of cystic fibrosis genetic testing, highlighting three articles on various aspectives of molecular genetic testing for the CFTR gene (J Mol Diagn 11: 186-193, 211-215, 253-256)... - New quality assurance standards for rare disease testingWayne W Grody
Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA
Genet Med 10:320-4. 2008 - Polyamine homeostasis in arginase knockout miceJoshua L Deignan
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1732, USA
Am J Physiol Cell Physiol 293:C1296-301. 2007..These results suggest that endogenous arginase-derived ornithine may not directly contribute to polyamine homeostasis in mice. Alternate sources such as diet may provide sufficient polyamines for maintenance in mammalian tissues... - Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemiaJoshua L Deignan
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA
Mol Genet Metab 93:172-8. 2008.... 
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyGlenn E Palomaki
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 14:296-305. 2012..To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13...- A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infantsChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, UCLA, Los Angeles, CA 90095, USA
Am J Med Genet A 149:1169-82. 2009.... - Disruption of arginase II alters prostate tumor formation in TRAMP miceShannon M Mumenthaler
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California 90095 1732, USA
Prostate 68:1561-9. 2008..However, the biological function of arginase II in prostate cancer still remains to be elucidated. In this study, we utilized the TRAMP mouse prostate cancer model to better understand the contribution of AII on tumor development... - Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation testsShuji Ogino
Department of Pathology, Brigham and Womens Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Genet Med 7:317-27. 2005..Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking... - Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapyEun K Lee
Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California 90095 7054, USA
Mol Ther 20:1844-51. 2012..These studies are the first to demonstrate that AAV-based therapy for arginase deficiency is effective and supports the development of gene therapy for this and the other urea cycle disorders... - An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiencyFabiola Quintero-Rivera
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Mol Genet Metab 101:413-6. 2010.... - Ethnic differences in parental perceptions of genetic testing for deaf infantsChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA 90024, USA
J Genet Couns 17:129-38. 2008..Understanding different perspectives on genetic testing for deafness will enhance genetic counselors' cultural competence and facilitate the pre-test genetic counseling session... - Contrasting features of urea cycle disorders in human patients and knockout mouse modelsJoshua L Deignan
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, CA 90095 1732, USA
Mol Genet Metab 93:7-14. 2008..Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders... - Testing and reporting ACMG cystic fibrosis mutation panel resultsRoger V Lebo
Department of Pathology, Akron Children s Hospital, Akron, OH 44308 1062, USA
Genet Test 11:11-31. 2007..These tables posterior test risks also indicate that when one partner with no family history tests negative for the 23 mutation panel, no further prenatal testing is indicated... - Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testingFrank S Ong
Department of Biomedical Sciences, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
Expert Rev Mol Diagn 12:593-602. 2012.... - Sharing GJB2/GJB6 genetic test information with family membersTerri Blase
Department of Biology, California State University Northridge, Northridge, CA, USA
J Genet Couns 16:313-24. 2007..Differences suggest that hearing loss may have unique attributes that influence responses to genetic test information. Further research is needed to replicate these findings... - Ordering genetic tests and interpreting the resultsJoshua L Deignan
University of California Los Angeles, Los Angeles, Calif, USA
Adv Otorhinolaryngol 70:18-24. 2011.... - Microelectronic array system for molecular diagnostic genotyping: Nanogen NanoChip 400 and molecular biology workstationDianne Keen-Kim
University of California Los Angeles, Center for Neurobehavioral Genetics, 965 Charles E Young Dr South, Gonda 3554, Los Angeles, CA 90095, USA
Expert Rev Mol Diagn 6:287-94. 2006..It is beyond the scope of this review to describe the use of NanoChip platforms in basic research, and to compare it against all available clinical single nucleotide polymorphism genotyping applications and platforms... - Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vectorChia Ling Gau
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Mol Ther 17:1155-63. 2009..These studies demonstrate that the AI deficient newborn mouse can be temporarily corrected and rescued using a HDV... - Bayesian analysis for cystic fibrosis risks in prenatal and carrier screeningShuji Ogino
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Genet Med 6:439-49. 2004..Our methods are particularly useful for calculating the CF disease risk for a fetus with echogenic bowel. In genetics practice, however, there are other scenarios for which our previous methods are inadequate... - Expression of arginase II in prostate cancerShannon M Mumenthaler
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, 650 Charles E Young Drive South, Los Angeles, CA 90095 1732, USA
Int J Oncol 32:357-65. 2008..More specifically, the elevated AII expression seen in androgen-dependent and in more differentiated prostate cancers suggests that AII could be a potentially useful marker of early stage prostate adenocarcinoma... - Arginase expression in mouse embryonic developmentHong Yu
Mental Retardation Research Center, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
Mech Dev 115:151-5. 2002..The strong AI expression in the peripheral nervous system suggests that the pathogenesis of the neurological retardation in AI deficiency may be conditioned by AI deficiency in the nervous system during embryonic development... - A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular geneticsMichael Jarvis
Department of Pathology and Laboratory Medicine, University of California at Los Angeles School of Medicine, 10833 Le Conte Ave, Los Angeles, CA 90095-1732, USA
J Mol Diagn 7:247-51. 2005.... - Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis geneRoger V Lebo
Department of Pathology, Akron Children s Hospital, Akron, OH 44308 1062, USA
Genet Test 11:32-44. 2007.... - Cloning and characterization of human agmatinaseRamaswamy K Iyer
Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
Mol Genet Metab 75:209-18. 2002..It has 56% similarity to E. coli agmatinase and 42% similarity to human arginases I and II and shares highly conserved substrate-binding domains with these well-characterized enzymes... - Mouse model for human arginase deficiencyRamaswamy K Iyer
Department of Pathology and Laboratory Medicine and the Mental Retardation Research Center, University of California Los Angeles School of Medicine, Los Angeles, California 90095 1732, USA
Mol Cell Biol 22:4491-8. 2002.... - Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemiaSheeja T Pullarkat
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, CHS, A7 149, Los Angeles, CA, 90095 1732, USA
J Hematop 2:27-33. 2009..SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications... - Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementationFrank S Ong
Department of Biomedical Sciences, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
Pharmacogenomics 13:465-75. 2012..We also discuss the effect of HMGCR/LDLR in decreasing the effectiveness of low-density lipoprotein cholesterol with statin therapy, the SLCO1B1 genotype and simvastatin myotoxicity, and ADRB1/ADD1 for antihypertensive response... - Arginine metabolism by macrophages promotes cardiac and muscle fibrosis in mdx muscular dystrophyMichelle Wehling-Henricks
Department of Integrative Biology and Physiology, University of California Los Angeles, Los Angeles, California, USA
PLoS ONE 5:e10763. 2010.... - Expression of the liver form of arginase in erythrocytesPhillip S Kim
Department of Pathology and Laboratory Medicine, University of California at Los Angeles School of Medicine, 10833 Le Conte Avenue, 90095 1732, USA
Mol Genet Metab 76:100-10. 2002.... - Arginases I and II: do their functions overlap?Stephen D Cederbaum
Department of Psychiatry, David Geffen School of Medicine at the University of California, Los Angeles, USA
Mol Genet Metab 81:S38-44. 2004..Finally, prenatal diagnosis appears to be possible as was predicted, but never proven, some years ago... - Widespread expression of arginase I in mouse tissues. Biochemical and physiological implicationsHong Yu
Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1732, USA
J Histochem Cytochem 51:1151-60. 2003.... - DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyGlenn E Palomaki
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
Genet Med 13:913-20. 2011..Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement... - Stuck between a scalpel and a rock, or molecular pathology and legal-ethical issues in use of tissues for clinical care and research: what must a pathologist know?Sarah Dry
Department of Pathology and Laboratory Medicine, UCLA David Geffen School of Medicine, Los Angeles, CA, USA
Am J Clin Pathol 137:346-55. 2012..This article reviews these rapidly evolving and complex areas... - Should we be applying warfarin pharmacogenetics to clinical practice? No, not nowMichael H Rosove
University of California, Los Angeles, Los Angeles, California 90095, USA
Ann Intern Med 151:270-3, W95. 2009..Further study is required before routine warfarin pharmacogenetic testing can be recommended... - Keeping up with the next generation: massively parallel sequencing in clinical diagnosticsJohn R ten Bosch
Departments of Human Genetics, University of California at Los Angeles School of Medicine, Los Angeles, California, USA
J Mol Diagn 10:484-92. 2008..In this review, technical issues are discussed, in addition to the practical considerations that will need to be addressed as advances push toward personal genome sequencing... - Ornithine deficiency in the arginase double knockout mouseJoshua L Deignan
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Mol Genet Metab 89:87-96. 2006..Although most human AI-deficient patients have no symptomatic hyperammonemia at birth, it is possible that clinically significant ornithine deficiency is already present... - Prelingual siblings of children with GJB2 hearing loss: issues to considerChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, UCLA Neuropsychiatric Institute, 90095, USA
Arch Otolaryngol Head Neck Surg 131:1020-2. 2005 - An electrochemical detection scheme for identification of single nucleotide polymorphisms using hairpin-forming probesTony Jun Huang
Mechanical and Aerospace Engineering Department, University of California-Los Angeles, Los Angeles, CA 90095-1597, USA
Nucleic Acids Res 30:e55. 2002..We have demonstrated that the system successfully identified the factor V Leiden mutations from human blood specimens... - Discordant pursuit asymmetry and esotropia in monozygous twinsPradeep Sharma
Department of Ophthalmology, University of California, Los Angeles, USA
Am J Ophthalmol 134:143-6. 2002..Discordance of infantile esotropia and pursuit asymmetry in monozygous twins implicates environmental in addition to genetic causes... - Infant hearing loss and connexin testing in a diverse populationLisa A Schimmenti
Department of Pediatrics, Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
Genet Med 10:517-24. 2008..This is the first study to differentiate infants with and without connexin-related hearing loss... - Developing a sustainable process to provide quality control materials for genetic testingBin Chen
Quality Control Materials for Genetic Testing Group, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
Genet Med 7:534-49. 2005..A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs... - Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratoriesElaine B Spector
Factor V Leiden Working Group, University of Colorado School of Medicine, CO, USA
Genet Med 7:444-53. 2005..It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines... - Genetic testing as part of the early hearing detection and intervention (EHDI) processLisa A Schimmenti
Department of Pediatrics and Institute of Human Genetics, University of Minnesota, USA
Genet Med 6:521-5. 2004 - Cystic fibrosis carrier screening: issues in implementationMichael S Watson
Genet Med 4:407-9. 2002 - Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panelMichael S Watson
ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA
Genet Med 6:387-91. 2004 - Prenatal screening for cystic fibrosis: past, present and futureCarolyn S Richards
Department of Molecular and Medical Genetics, DNA Diagnostic Laboratory, Oregon Health Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA
Expert Rev Mol Diagn 4:49-62. 2004..An even greater challenge is clinical implementation, which focuses upon education and communication, choosing models, reporting, counseling and prenatal diagnosis... - Standards and guidelines for CFTR mutation testingCarolyn Sue Richards
Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA
Genet Med 4:379-91. 2002..We take the view that these technologies will change, and thus this document will change with future review... - Cystic fibrosis mutations in Costa RicaPatricia B Venegas
Laboratorio de Genetica, Hospital Nacional de Ninos, San Jose, Costa Rica
Hum Biol 75:179-88. 2003.... - Alternative approaches to proficiency testing in molecular geneticsC Sue Richards
Clin Chem 49:717-8. 2003 - Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and IrelandSimon C Ramsden
National Genetics Reference Laboratory Manchester, St Mary s Hospital, Manchester, UK
Genet Test 10:147-56. 2006.... - Cystic fibrosis mutation analysis: how many is enough?Gregory J Tsongalis
Genet Med 6:456-8. 2004 - Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testingGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine 04070-0190, USA
Genet Med 5:440-3. 2003..CONCLUSION: HFE testing for C282Y homozygosity is highly reliable. Homozygosity is uncommon in population screening, however, and confirmatory testing should be considered...