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Presentations

Presentations TitleEventLocationDate
Angela Sun, MD Zellweger syndrome case presentation and review of Peroxisome Biogenesis DisordersSeattle Childrens Hospital Inborn Errors of Metabolism ConferenceSeattle, WAFeb. 6, 2013
Angela Sun, MDPompe Disease in Washington State: Clinical Experience and Mutation UpdateACMG Clinical Genetics Meeting 2013Phoenix, AZ 2013
Angela Sun, MDAn Unusual Presentation of Glutaric Acidemia Type IISeattle Childrens Hospital Inborn Errors of Metabolism ConferenceSeattle, WASept. 5, 2012
Angela Sun, MDPulmonary Function and Exercise Intolerance in Boys with Fabry Disease8th Annual WORLD Symposium 2012San Diego, CA 2012
Angela Sun, MDRetinitis Pigmentosa, a Previously Unreported Finding in Glutaric Acidemia Type II35th Annual Society of Inherited Metabolic Disease Meeting, 2012Charlotte, North Carolina 2012
Margaret L P Adam, MDEvolving knowledge of the teratogenicity of medications in human pregnancyObstetrics/Gynecology Grand Rounds, University of WashingtonSeattle, WAJan. 11, 2012
Heather C. Mefford, MD, PhDCNVs in epilepsy, ASD and Intellectual disabilityInternational Child Neurology ConferenceBrisbane, Australia 2012
Heather C. Mefford, MD, PhDMicroarrays and Whole Exome Sequencing Provide a Window into Developmental Brain DisordersPediatric Academic Societies Annual MeetingBoston, MA 2012
Margaret L P Adam, MDEvolving knowledge of the teratogenicity of medications in human pregnancyAlaska Native Tribal Health Consortium Grand RoundsAnchorage, AKNov. 15, 2011
Angela Sun, MDGenetic and Metabolic Causes of Neonatal SeizuresCedars-Sinai Medical Center, Department of Pediatrics case conferenceLos Angeles, CANov. 3, 2011
Sihoun Hahn, MD, PhDTryptic Peptide Analysis of WBC to Diagnose Genetic disorders: Application to Primary Immunodeficiency Disorders and Nephropathic Cystinosis.American Society of Human GeneticsMontreal, CanadaOct. 15, 2011
Daniel A. Doherty, MD, PhDRhombencephalosynapsis: An under-recognized disorder associated with aqueductal stenosis and a wide spectrum of severity.American Society for Human Genetics 61st Annual Meeting 2011Montreal, Quebec, CanadaOct. 14, 2011
Sihoun Hahn, MD, PhDTryptic peptide analysis of Wilson disease by LC-MS/MS. International Conference on Metals and GeneticsKobe, JapanSept. 4, 2011 - Sept. 8, 2011
Sihoun Hahn, MD, PhDA Lesson from Next-Generation Sequencing for Targeted Mitochondrial Diseases: Redefining the Diagnostic SpectrumGenetic Grand Round, Providence Sacred Heart HospitalSpokane, WAAug. 17, 2011
Margaret L P Adam, MDEvolving knowledge of the teratogenicity of medications in human pregnancySeattle Children's Hospital Pediatric Grand RoundsSeattle, WAJuly 28, 2011
Daniel A. Doherty, MD, PhDJoubert syndrome: Clinical features and genetic causesJoubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care (NIH sponsored)Orlando, FLJuly 14, 2011
Margaret L P Adam, MDPrenatal Diagnosis of Disorders of Sex DevelopmentDisorders of Sex Development: Clinical, Ethical and Legal PerspectivesSeattle, WAJuly 10, 2011
Sihoun Hahn, MD, PhDNext-generation sequencing for clinical application to target mitochondrial disorders. Keynote speakerGarrod SymposiumCalgary, CanadaJune 10, 2011
Sihoun Hahn, MD, PhDGenetic Approach to Metabolic ConditionsAmerican Society of NeuroradiologySeattle, WAJune 7, 2011
Heather C. Mefford, MD, PhDNew Insights into the evaluation of the individual with Interllectual DisabilityAmerican College of Medical Genetics Annual CLinical Genetics MeetingVancouver, WAMarch 2011
Daniel A. Doherty, MD, PhDJoubert syndrome: phenotype to genotype to mechanismNewborn Brain Research Institute SeminarUniversity of California at San FranciscoFeb. 17, 2011
Michael J. Bamshad, MDExome sequencing as a tool for gene discoveryCanadian Human Genetics Conference, Banff, Canada 2011
Michael J. Bamshad, MDExome sequencing as a tool for gene discoveryNew England Regional Genetics Group Regional Genetics Counseling ConferenceBoston, MA 2011
Michael J. Bamshad, MDExome sequencing as a tool for gene discoveryManton Center for Orphan Disease ResearchHarvard Medical School, Boston MA 2011
Angela Sun, MDCompartment Syndrome: a Rare Complication of Ehlers-Danlos Syndrome Type IVWestern Society of Pediatric Research, 2011 2011
Angela Sun, MDBranchio-Oto-Renal Syndrome in an Extended PedigreeDavid W. Smith Workshop on Malformations and Morphogenesis, 2011Lake Arrowhead, CA 2011
David R. Beier, MD, PhDLectureBroad Institute, Medical and Population Genetics ProgramCambridge, MA 2011
David R. Beier, MD, PhDInvited lectureCedars Sinai HospitalLos Angeles, CA 2011
David R. Beier, MD, PhDInvited LectureMouse Molecular GeneticsHinxton, UK 2011
David R. Beier, MD, PhDInviited LectureMontreal Symposium on Genetics and Infectious DiseasesMontreal, Canada 2011
Heather C. Mefford, MD, PhDGenomic approaches to epilepsy: Copy number variantsAmerican Epilepsy Society Annual meetingBaltimore, MD 2011
Heather C. Mefford, MD, PhDCNVs in epilepsyComing Together on Epilepsy Genetics WorkshopJackson Labs, Bar Harbor Maine 2011
Heather C. Mefford, MD, PhDCopy number variants in epilepsiesGenomic Disorders MeetingSanger Center, Hinxton, UK 2011
Ian A. Glass, MB ChB, MDWhen cilia go badPediatric Grand Rounds, Seattle Children's HospitalSeattle, WADec. 10, 2010
Margaret L P Adam, MDClinical Utility of Array Comparative Genomic Hybridization (aCGH)Genetic Providers Group Education MeetingKent, WAOct. 1, 2010
Sihoun Hahn, MD, PhDChallenges in the Clinical Application of Next-Generation Sequencing for Mitochondrial Disorders. 2010 Illumina Regional Sequencing User Group MeetingSeattle, WAJuly 30, 2010
Angela Sun, MDGenomic ImprintingCedars-Sinai Medical Center, Department of Pediatrics case conferenceLos Angeles, CAJune 8, 2010
Ian A. Glass, MB ChB, MDWhen cilia go badPediatric Grand Rounds, Providence Medical CenterAnchorage, AKMay 19, 2010
Sihoun Hahn, MD, PhDDiagnostic challenges in mitochondrial disordersKorea University Medical Center, Guro HospitalSeoul, KoreaMay 13, 2010
Sihoun Hahn, MD, PhDDiagnostic challenges in mitochondrial disordersSamsung Medical CenterSeoul, KoreaMay 12, 2010
Sihoun Hahn, MD, PhDThe recent advance in the diagnosis of genetic disordersKorean Child Neurology SocietyIncheon, KoreaApril 14, 2010
Anita E. Beck, MD, PhDDefects of embryonic myosin in Freeman-Sheldon syndrome cause reduced force and prolonged relaxation of skeletal myofibersNorthwest Genetics ExchangeSeattle, WA 2010
Michael J. Bamshad, MDExome sequencing brings the genome to the clinicAssociation of Medical School Pediatric Department Chairs, Inc./Frontiers in Science/Pediatric Scientist Development Program Annual Meeting, Tampa Bay, FL 2010
Michael J. Bamshad, MDRace, ancestry, and genomics The Evolution of Human Biodiversity, The Salk Institute, La Jolla, CA 2010
Michael J. Bamshad, MDMendelian Genetics by exome sequencingAnnual Human and Molecular Genetics Symposium, The University of Texas Graduate School of Biomedical Sciences at Houston, Houston, TX 2010
Michael J. Bamshad, MDDiscovery of a gene for kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases55th Annual Meeting of the Japanese Society of Human Genetics, Omiya Sonic City, Japan 2010
Michael J. Bamshad, MDDistal arthrogryposis: genetic and molecular basisAustralian Health and Medical Research Congress, Melbourne, Australia 2010
Michael J. Bamshad, MDMendelian Genetics by exome sequencingAustralian Health and Medical Research Congress, Melbourne, Australia 2010
David R. Beier, MD, PhDInvited LectureMCDB Dept, CU BoulderBoulder, CO 2010
Heather C. Mefford, MD, PhDCopy number variants in epilepsy: Identification of novel susceptibility lociNorth East Epilepsy MeetingNewcastle Upon Tyne, England 2010
Heather C. Mefford, MD, PhDA Spectrum of Genomic DisordersDECIPHER Symposium Hinxton, UK 2010
Rebecca Johnson, MDFertility and Cancer TreatmentHematology/Oncology Monthly Conference - Mary Bridge HospitalTacoma, WADec. 10, 2009
Rebecca Johnson, MD Cancer Predisposition in Young AdultsLance Armstong Young Adult Alliance Annual MeetingAustin, TXNov. 12, 2009
Rebecca Johnson, MD The Unique Biology of Breast Cancer in Young WomenLance Armstong Young Adult Alliance Annual MeetingAustin, TXNov. 11, 2009
J Lawrence Merritt II, MDThe Diagnosis of Genetic Disease. 3) Northwest Medical Laboratory Symposium. American Society for Clinical Laboratory Science, Region IX. Seattle, WAOct. 23, 2009
Sihoun Hahn, MD, PhDNext Generation Sequence Analysis for Mitochondrial DisordersInternational Congress of Inborn Errors of MetabolismSan Diego, CAAug. 30, 2009
Rebecca Johnson, MDOptimizing Cancer Care for Adolescents and Young AdultsLance Armstrong Foundation Regional Symposium Fred Hutchinson Cancer Research Center - Seattle, WAJuly 25, 2009
Sihoun Hahn, MD, PhDMolecular Genetic Testing for Wilson DiseaseWilson Disease Symposium, California Pacific Medical CenterSan Francisco, CAMay 2, 2009
David R. Beier, MD, PhDInvited LectureSecond International Conference of Functional Annotation of the Mammalian GenomeBanff, Canada 2009
J Lawrence Merritt II, MDNewborn Screening: An Update on the Expansion. Pediatric Grand Rounds, Seattle Children's HospitalSeattle, WAJan. 29, 2009
Margaret L P Adam, MDThe 22q11 Deletion Syndrome20th Cleft Lip and Palate SymposiumAtlanta, GAOct. 25, 2008
Sihoun Hahn, MD, PhDConundrum of Wilson DiseaseXVI World Congress of Psychiatric GeneticsOsaka, JapanOct. 12, 2008 - Oct. 15, 2008
J Lawrence Merritt II, MDMetabolic Disorders for all ages. WWAMI Visiting Professor Grand Rounds, 2 lectures. St. Lukes Regional Medical Center, Boise, ID and Mercy Medical Center, Nampa, IDSept. 24, 2008
Margaret L P Adam, MDHomozygous Alpha-Thalassemia and Birth Defects in Humans: A Possible Hypoxic Mechanism48th Annual Meeting of the Teratology SocietyMonterey, CAJune 29, 2008
Sihoun Hahn, MD, PhDChallenges in the diagnosis of metabolic diseasesMary Bridge Children's Hospital Pediatric Neuroscience ConferenceTacoma, WAApril 25, 2008
Sihoun Hahn, MD, PhDChallenges in the diagnosis of metabolic diseasesMadigan Hospital Developmental Pediatrics RoundTacoma, WAApril 15, 2008
Sihoun Hahn, MD, PhDWilsons disease. The Northwest Pediatric Liver Disease SymposiumSeattle, WAApril 11, 2008 - April 12, 2008
Ian A. Glass, MB ChB, MDAdvances in understanding Joubert SyndromePediatric Grand Rounds, Alaska Native Medical CenterAnchorage, AKJan. 26, 2008
Ian A. Glass, MB ChB, MDPrenatal diagnosis of orthopedic disordersStaheli Orthopedic Conference, Seattle Children's HospitalSeattle, WAJan. 26, 2008
Ian A. Glass, MB ChB, MDAdvances in understanding Joubert SyndromeMedical Genetics Grand Rounds, University of WashingtonSeattle, WADec. 14, 2007
Sihoun Hahn, MD, PhDNewborn screening for Wilson diseaseWilson Dsease Association Regional MeetingSeattle, WANov. 11, 2007
Margaret L P Adam, MDOncogenes and Human Malformation Syndromes38th Annual Environmental Society MeetingAtlanta, GAOct. 24, 2007
Sihoun Hahn, MD, PhDThe expansion of Newborn Screening: Will there be a limit? Laboratory Medicine Grand Round, UWSeattle, WAMay 9, 2007
Margaret L P Adam, MDGenetic Counseling and Prenatal Diagnosis for Families with Primary Immunodeficiency SyndromesApproaches to the Diagnosis and Treatment of Primary Immune Deficiency DiseasesEmory University School of Medicine, Atlanta, GAMay 5, 2007
Margaret L P Adam, MDCardinal Signs and Symptoms of Mowat-Wilson SyndromeAmerican College of Medical Genetics MeetingNashville, TNMarch 25, 2007
Ian A. Glass, MB ChB, MDPrenatal diagnosis of hindbrain malformationsCerebellar Development: From Bench to Bedside, 2006 International ConferenceWashington, DCNov. 9, 2006 - Nov. 12, 2006
Sihoun Hahn, MD, PhDPopulation screening for Wilson disease in the U.S. International Workshop for Wilson DiseaseBethesda, MDNov. 2, 2006 - Nov. 3, 2006
Ian A. Glass, MB ChB, MDGenotype-phenotype correlations in Joubert syndrome11th International Congress of Human GeneticsBrisbane, AustraliaAug. 10, 2006
Ian A. Glass, MB ChB, MDThe impact of the human genome project on pediatricsWAAMI, Port Angeles Pediatrics GroupPort Angeles, WAMay 23, 2006
Margaret L P Adam, MDOn the Horizon: Array Comparative Genomic HybridizationGeorgia Birth Defects Surveillance Advisory CommitteeAtlanta, GAApril 28, 2006
Sihoun Hahn, MD, PhDPeroxisomal proliferation activator receptor (PPAR) agonists as a potential therapeutic use for patients with mitochondrial disordersResearch Forum, Mayo ClinicRochester, MNApril 21, 2006
Margaret L P Adam, MDApproach to the Dysmorphic NewbornNeonatology 2006Atlanta, GAMarch 31, 2006
Margaret L P Adam, MDThe Genetics of Facial CleftingGeorgia Speech-Language-Hearing AssociationAtlanta, GAMarch 25, 2006
Anita E. Beck, MD, PhDPhenotypic Characterization of Familial Oculo-Auriculo-Vertebral Spectrum (OAVS)Department of Pediatrics Fellows Research DaySeattle, WA 2006
Ian A. Glass, MB ChB, MDPyridoxine dependent seizuresNeurology Grand Rounds, University of WashingtonSeattle, WAMarch 12, 2005
Ian A. Glass, MB ChB, MDPrenatal diagnosis for Joubert syndromeJoubert Syndrome Foundation 7th Biennial ConferenceSt. Louis, MOJuly 28, 2004
Ian A. Glass, MB ChB, MDThe impact of the human genome project on medical careWAAMI, Madrona Medical and Pediatrics PracticeBellingham, WAApril 7, 2004
Ian A. Glass, MB ChB, MDThe impact of the human genome project on pediatric carePediatrics update symposiumTacoma, WASept. 27, 2003
Ian A. Glass, MB ChB, MDThe impact of the human genome project on medical careGenetics symposium, Barbara Bush Children's HospitalPortland, MEJune 5, 2003
Ian A. Glass, MB ChB, MDPyridoxine dependent seizuresMedical Genetics Grand Rounds, University of WashingtonSeattle, WAMarch 12, 2003
Ian A. Glass, MB ChB, MDThe impact of the human genome project on prenatal diagnosisUltrasound training courseSeattle, WASept. 8, 2002
Ian A. Glass, MB ChB, MDThe impact of the human genome project on the future of pediatric carePlatform presentation, National Associaton of Childrens Hospitals Annual national meeting (NACHRI)Seattle, WAJuly 1, 2002
Ian A. Glass, MB ChB, MDMolecular genetics of Madelung deformity of childhoodMedical Genetics Grand Rounds, University of WashingtonSeattle, WAOct. 26, 2001
Ian A. Glass, MB ChB, MDGenetic disorders and teenage mental healthPlatform Presentation, Primary Care National ConferenceSeattle, WASept. 21, 2001
Ian A. Glass, MB ChB, MDBeyond the outback: Practical applications for the new geneticsPediatric Grand Rounds, University of WashingtonSeattle, WAJune 28, 2001
Ian A. Glass, MB ChB, MDThe practice of medical genetics in AustraliaGrand Rounds, Alaska Regional Medical CenterAnchorage, AKNov. 28, 2000