Presentations

Presentations Title Event Location Date
Ghayda Mirzaa, MD Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH): 3 genes, evidence for mosaicism, familial recurrence and genotype-phenotype analysis 35th David W. Smith Workshops on Malformations and Morphogenesis 2014
Angela Sun, MD Zellweger syndrome case presentation and review of Peroxisome Biogenesis Disorders Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Feb. 6, 2013
Angela Sun, MD Pompe Disease in Washington State: Clinical Experience and Mutation Update ACMG Clinical Genetics Meeting 2013 Phoenix, AZ 2013
Ghayda Mirzaa, MD Molecular insights into mosaic megalencephaly syndromes 34th David W. Smith Workshops on Malformations and Morphogenesis 2013
Ghayda Mirzaa, MD The extremes of brain size: megalencephaly (MEG) -- new genes, new pathways, overlapping phenotypes The Pacific Northwest Neurology Exchange 2013
J Lawrence Merritt II, MD A Clinical Approach to Inborn Errors of Metabolism. Excellence in Pediatrics 2012. Madrid, Spain. Nov. 29, 2012
Angela Sun, MD An Unusual Presentation of Glutaric Acidemia Type II Seattle Childrens Hospital Inborn Errors of Metabolism Conference Seattle, WA Sept. 5, 2012
Heather C. Mefford, MD, PhD CNVs in epilepsy, ASD and Intellectual disability International Child Neurology Conference Brisbane, Australia 2012
Heather C. Mefford, MD, PhD Microarrays and Whole Exome Sequencing Provide a Window into Developmental Brain Disorders Pediatric Academic Societies Annual Meeting Boston, MA 2012
Angela Sun, MD Pulmonary Function and Exercise Intolerance in Boys with Fabry Disease 8th Annual WORLD Symposium 2012 San Diego, CA 2012
Angela Sun, MD Retinitis Pigmentosa, a Previously Unreported Finding in Glutaric Acidemia Type II 35th Annual Society of Inherited Metabolic Disease Meeting, 2012 Charlotte, North Carolina 2012
Angela Sun, MD Genetic and Metabolic Causes of Neonatal Seizures Cedars-Sinai Medical Center, Department of Pediatrics case conference Los Angeles, CA Nov. 3, 2011
Sihoun Hahn, MD, PhD Tryptic Peptide Analysis of WBC to Diagnose Genetic disorders: Application to Primary Immunodeficiency Disorders and Nephropathic Cystinosis. American Society of Human Genetics Montreal, Canada Oct. 15, 2011
Daniel A. Doherty, MD, PhD Rhombencephalosynapsis: An under-recognized disorder associated with aqueductal stenosis and a wide spectrum of severity. American Society for Human Genetics 61st Annual Meeting 2011 Montreal, Quebec, Canada Oct. 14, 2011
Sihoun Hahn, MD, PhD Tryptic peptide analysis of Wilson disease by LC-MS/MS. International Conference on Metals and Genetics Kobe, Japan Sept. 4, 2011 - Sept. 8, 2011
Sihoun Hahn, MD, PhD A Lesson from Next-Generation Sequencing for Targeted Mitochondrial Diseases: Redefining the Diagnostic Spectrum Genetic Grand Round, Providence Sacred Heart Hospital Spokane, WA Aug. 17, 2011
Daniel A. Doherty, MD, PhD Joubert syndrome: Clinical features and genetic causes Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care (NIH sponsored) Orlando, FL July 14, 2011
Sihoun Hahn, MD, PhD Next-generation sequencing for clinical application to target mitochondrial disorders. Keynote speaker Garrod Symposium Calgary, Canada June 10, 2011
Sihoun Hahn, MD, PhD Genetic Approach to Metabolic Conditions American Society of Neuroradiology Seattle, WA June 7, 2011
Heather C. Mefford, MD, PhD New Insights into the evaluation of the individual with Interllectual Disability American College of Medical Genetics Annual CLinical Genetics Meeting Vancouver, WA March 2011
Daniel A. Doherty, MD, PhD Joubert syndrome: phenotype to genotype to mechanism Newborn Brain Research Institute Seminar University of California at San Francisco Feb. 17, 2011
Heather C. Mefford, MD, PhD Genomic approaches to epilepsy: Copy number variants American Epilepsy Society Annual meeting Baltimore, MD 2011
Heather C. Mefford, MD, PhD CNVs in epilepsy Coming Together on Epilepsy Genetics Workshop Jackson Labs, Bar Harbor Maine 2011
Heather C. Mefford, MD, PhD Copy number variants in epilepsies Genomic Disorders Meeting Sanger Center, Hinxton, UK 2011
Michael J. Bamshad, MD Exome sequencing as a tool for gene discovery Canadian Human Genetics Conference, Banff, Canada 2011
Michael J. Bamshad, MD Exome sequencing as a tool for gene discovery New England Regional Genetics Group Regional Genetics Counseling Conference Boston, MA 2011
Michael J. Bamshad, MD Exome sequencing as a tool for gene discovery Manton Center for Orphan Disease Research Harvard Medical School, Boston MA 2011
Angela Sun, MD Compartment Syndrome: a Rare Complication of Ehlers-Danlos Syndrome Type IV Western Society of Pediatric Research, 2011 2011
Angela Sun, MD Branchio-Oto-Renal Syndrome in an Extended Pedigree David W. Smith Workshop on Malformations and Morphogenesis, 2011 Lake Arrowhead, CA 2011
Ian A. Glass, MB ChB, MD When cilia go bad Pediatric Grand Rounds, Seattle Children's Hospital Seattle, WA Dec. 10, 2010
Sihoun Hahn, MD, PhD Challenges in the Clinical Application of Next-Generation Sequencing for Mitochondrial Disorders. 2010 Illumina Regional Sequencing User Group Meeting Seattle, WA July 30, 2010
Angela Sun, MD Genomic Imprinting Cedars-Sinai Medical Center, Department of Pediatrics case conference Los Angeles, CA June 8, 2010
Ian A. Glass, MB ChB, MD When cilia go bad Pediatric Grand Rounds, Providence Medical Center Anchorage, AK May 19, 2010
Sihoun Hahn, MD, PhD Diagnostic challenges in mitochondrial disorders Korea University Medical Center, Guro Hospital Seoul, Korea May 13, 2010
Sihoun Hahn, MD, PhD Diagnostic challenges in mitochondrial disorders Samsung Medical Center Seoul, Korea May 12, 2010
Sihoun Hahn, MD, PhD The recent advance in the diagnosis of genetic disorders Korean Child Neurology Society Incheon, Korea April 14, 2010
Heather C. Mefford, MD, PhD Copy number variants in epilepsy: Identification of novel susceptibility loci North East Epilepsy Meeting Newcastle Upon Tyne, England 2010
Heather C. Mefford, MD, PhD A Spectrum of Genomic Disorders DECIPHER Symposium Hinxton, UK 2010
Anita E. Beck, MD, PhD Defects of embryonic myosin in Freeman-Sheldon syndrome cause reduced force and prolonged relaxation of skeletal myofibers Northwest Genetics Exchange Seattle, WA 2010
Michael J. Bamshad, MD Exome sequencing brings the genome to the clinic Association of Medical School Pediatric Department Chairs, Inc./Frontiers in Science/Pediatric Scientist Development Program Annual Meeting, Tampa Bay, FL 2010
Michael J. Bamshad, MD Race, ancestry, and genomics The Evolution of Human Biodiversity, The Salk Institute, La Jolla, CA 2010
Michael J. Bamshad, MD Mendelian Genetics by exome sequencing Annual Human and Molecular Genetics Symposium, The University of Texas Graduate School of Biomedical Sciences at Houston, Houston, TX 2010
Michael J. Bamshad, MD Discovery of a gene for kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases 55th Annual Meeting of the Japanese Society of Human Genetics, Omiya Sonic City, Japan 2010
Michael J. Bamshad, MD Distal arthrogryposis: genetic and molecular basis Australian Health and Medical Research Congress, Melbourne, Australia 2010
Michael J. Bamshad, MD Mendelian Genetics by exome sequencing Australian Health and Medical Research Congress, Melbourne, Australia 2010
J Lawrence Merritt II, MD The Diagnosis of Genetic Disease. 3) Northwest Medical Laboratory Symposium. American Society for Clinical Laboratory Science, Region IX. Seattle, WA Oct. 23, 2009
Sihoun Hahn, MD, PhD Next Generation Sequence Analysis for Mitochondrial Disorders International Congress of Inborn Errors of Metabolism San Diego, CA Aug. 30, 2009
Sihoun Hahn, MD, PhD Molecular Genetic Testing for Wilson Disease Wilson Disease Symposium, California Pacific Medical Center San Francisco, CA May 2, 2009
J Lawrence Merritt II, MD Newborn Screening: An Update on the Expansion. Pediatric Grand Rounds, Seattle Children's Hospital Seattle, WA Jan. 29, 2009
Sihoun Hahn, MD, PhD Conundrum of Wilson Disease XVI World Congress of Psychiatric Genetics Osaka, Japan Oct. 12, 2008 - Oct. 15, 2008
J Lawrence Merritt II, MD Metabolic Disorders for all ages. WWAMI Visiting Professor Grand Rounds, 2 lectures. St. Lukes Regional Medical Center, Boise, ID and Mercy Medical Center, Nampa, ID Sept. 24, 2008
Sihoun Hahn, MD, PhD Challenges in the diagnosis of metabolic diseases Mary Bridge Children's Hospital Pediatric Neuroscience Conference Tacoma, WA April 25, 2008
Sihoun Hahn, MD, PhD Challenges in the diagnosis of metabolic diseases Madigan Hospital Developmental Pediatrics Round Tacoma, WA April 15, 2008
Sihoun Hahn, MD, PhD Wilsons disease. The Northwest Pediatric Liver Disease Symposium Seattle, WA April 11, 2008 - April 12, 2008
Ian A. Glass, MB ChB, MD Advances in understanding Joubert Syndrome Pediatric Grand Rounds, Alaska Native Medical Center Anchorage, AK Jan. 26, 2008
Ian A. Glass, MB ChB, MD Prenatal diagnosis of orthopedic disorders Staheli Orthopedic Conference, Seattle Children's Hospital Seattle, WA Jan. 26, 2008
Ian A. Glass, MB ChB, MD Advances in understanding Joubert Syndrome Medical Genetics Grand Rounds, University of Washington Seattle, WA Dec. 14, 2007
Sihoun Hahn, MD, PhD Newborn screening for Wilson disease Wilson Dsease Association Regional Meeting Seattle, WA Nov. 11, 2007
Sihoun Hahn, MD, PhD The expansion of Newborn Screening: Will there be a limit? Laboratory Medicine Grand Round, UW Seattle, WA May 9, 2007
Ian A. Glass, MB ChB, MD Prenatal diagnosis of hindbrain malformations Cerebellar Development: From Bench to Bedside, 2006 International Conference Washington, DC Nov. 9, 2006 - Nov. 12, 2006
Sihoun Hahn, MD, PhD Population screening for Wilson disease in the U.S. International Workshop for Wilson Disease Bethesda, MD Nov. 2, 2006 - Nov. 3, 2006
Ian A. Glass, MB ChB, MD Genotype-phenotype correlations in Joubert syndrome 11th International Congress of Human Genetics Brisbane, Australia Aug. 10, 2006
Ian A. Glass, MB ChB, MD The impact of the human genome project on pediatrics WAAMI, Port Angeles Pediatrics Group Port Angeles, WA May 23, 2006
Sihoun Hahn, MD, PhD Peroxisomal proliferation activator receptor (PPAR) agonists as a potential therapeutic use for patients with mitochondrial disorders Research Forum, Mayo Clinic Rochester, MN April 21, 2006
Anita E. Beck, MD, PhD Phenotypic Characterization of Familial Oculo-Auriculo-Vertebral Spectrum (OAVS) Department of Pediatrics Fellows Research Day Seattle, WA 2006
Ian A. Glass, MB ChB, MD Pyridoxine dependent seizures Neurology Grand Rounds, University of Washington Seattle, WA March 12, 2005
Ian A. Glass, MB ChB, MD Prenatal diagnosis for Joubert syndrome Joubert Syndrome Foundation 7th Biennial Conference St. Louis, MO July 28, 2004
Ian A. Glass, MB ChB, MD The impact of the human genome project on medical care WAAMI, Madrona Medical and Pediatrics Practice Bellingham, WA April 7, 2004
Ian A. Glass, MB ChB, MD The impact of the human genome project on pediatric care Pediatrics update symposium Tacoma, WA Sept. 27, 2003
Ian A. Glass, MB ChB, MD The impact of the human genome project on medical care Genetics symposium, Barbara Bush Children's Hospital Portland, ME June 5, 2003
Ian A. Glass, MB ChB, MD Pyridoxine dependent seizures Medical Genetics Grand Rounds, University of Washington Seattle, WA March 12, 2003
Ian A. Glass, MB ChB, MD The impact of the human genome project on prenatal diagnosis Ultrasound training course Seattle, WA Sept. 8, 2002
Ian A. Glass, MB ChB, MD The impact of the human genome project on the future of pediatric care Platform presentation, National Associaton of Childrens Hospitals Annual national meeting (NACHRI) Seattle, WA July 1, 2002
Ian A. Glass, MB ChB, MD Molecular genetics of Madelung deformity of childhood Medical Genetics Grand Rounds, University of Washington Seattle, WA Oct. 26, 2001
Ian A. Glass, MB ChB, MD Genetic disorders and teenage mental health Platform Presentation, Primary Care National Conference Seattle, WA Sept. 21, 2001
Ian A. Glass, MB ChB, MD Beyond the outback: Practical applications for the new genetics Pediatric Grand Rounds, University of Washington Seattle, WA June 28, 2001
Ian A. Glass, MB ChB, MD The practice of medical genetics in Australia Grand Rounds, Alaska Regional Medical Center Anchorage, AK Nov. 28, 2000