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American College of Medical Genetics and Genomics

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2013 ACMG Genetics and Genomics Review Course - Archived Webinar
 
2013 Annual Clinical Genetics Meeting
 
2014 Annual Clinical Genetics Meeting
 
2015 Annual Clinical Genetics Meeting
 
2016 Annual Clinical Genetics Meeting
 
MODULE: 2013 ACMG Genetics and Genomics Review Course
 
SESSION RECORDINGS - ACMG 2013 Genetics and Genomics Review Course
Browse All Sessions
 
 
 
 
'Duty to Recontact:' An Historical Perspective
 
165-205: A Phase 2, Multi-Center, Open-Label, Dose-Finding Study to Evaluate Safety, Efficacy and Tolerability of Subcutaneously (SC) Administered rAvPAL-PEG in Patients with PKU
 
2013 ACMG Genetics and Genomics Review Course
 
2013 ACMG Genetics and Genomics Review Course
 
2016 Father Robert C. Baumiller Symposium
 
44th Annual March of Dimes Clinical Genetics Conference: Genetics of Skeletal Dysplasias and Connective Tissues Disorders
 
47, XXY (Klinefelter Syndrome): Sustained Positive Effects of Early Hormonal Replacement in Infancy on Neurodevelopmental and Neurobehavioral Outcome at 9 Years of Age
 
A Career as an ABMG Certified Clinical Laboratory Scientist: Diverse, Challenging and Rewarding
 
A Framework for Evaluating the Pathogenicity of Gene Variants
 
A Framework for Incidental Findings from Exome Sequencing in the Pediatric Setting
 
A Novel Approach in Telegenetics Services - Geneticist, Pediatrician and Genetic Counselor Team
 
A One-Year Snapshot of the Largest Longitudinal Pediatric Whole-Genome Study
 
A Vignette-Play Illuminates the Complexities of 'Duty to Recontact'
 
AAV Strategies for Hemophilia B
 
ABMG Review and Exam Preparation Tips
 
ABMG Review and Exam Preparation Tips
 
ABMG Review and Exam Preparation Tips
 
ACMG Foundation Day of Caring Bicycles Presentation
 
ACMG Foundation Donors Reception - Honoring David L. Rimoin
 
ACMG Short Course: A Neurogenetics Update
 
ACMG Short Course: Array, NIPT and Expanded Carrier Screening: Advances and Controversies in Prenatal Genetics
 
ACMG Short Course: Cancer Genetics: Translation of New Concepts to Clinical Care
 
ACMG Short Course: Clinical Exome Sequencing
 
ACMG Short Course: Labs are from Venus and Docs are from Mars: Interpretation and Reporting of Sequence Variants
 
ACMG Short Course: Next Generation Sequencing from a Clinical Perspective: What Are You Getting and What Does it Mean?
 
ACMG/SIMD Joint Plenary (Part 1) Could It Be Metabolic? Practical Approaches to Common Presentations
 
ACMG/SIMD Joint Plenary (Part 2) Diagnosis of Metabolic Disease in the 21st Century
 
Actionable, Known Pathogenic Incidental Findings in 1000 Subjects' Exomes
 
Actionable, Pathogenic Incidental Findings in 6500 Subjects' Exomes
 
Acylcarnitine Profiles Indicate Subtle Differences in Biochemistry in Methylmalonic Acidemia and Propionic Acidemia
 
Addressing the Missing Diagnostic Yield in Exome Testing
 
Adult Cancer Predisposition Syndromes: What Are the Management Issues for Their Children?
 
Adult Genetics Diagnostic Dilemmas (Unknowns and Rare Knowns)
 
Advanced Molecular Cancer Genetics: State of the Art Today and Beyond This activity is supported by an unrestricted educational grant from Illumina.
 
Advances in Fragile X Diagnostics and Evidence of Dysregulated FMRP Pathways
 
Advances in Genomic Technologies for Personalized Approaches to Cancer Therapeutics
 
Advances in the Diagnostic Evaluation of Neonatal Patients with Genetic Syndromes and Other Metabolic and Genetic Conditions - Part 1: 24-hour Genome Diagnosis in the NICU
 
Advances in the Diagnostic Evaluation of Neonatal Patients with Genetic Syndromes and Other Metabolic and Genetic Conditions - Part 2: Case Presentations and Panel Discussion
 
An Innovative Approach to Documentation and Use of the Cancer Family History by Primary Care Clinicians that Improves Access to Genetic Services
 
Are Karyotypically Normal AML Cases Really Normal? Identification of Common Regions of Homozygosity (ROH) in Karyotypically Normal Cases with Acute Myelogenous Leukemia (AML) by CytoScan HD Microarray: A Pilot Study
 
Arming Physicians with Knowledge
 
Audience Participation
 
Audience Questions
 
Autism Genetics
 
Baylor WES Experience: Reimbursement Successes and Failures in "Reference Laboratory" WES
 
Bedside to Bedside: Seamless Collection, Analysis, and Delivery of Genomic Data in a Diagnostic Setting
 
Biochemical Genetics I
 
Biochemical Genetics I
 
Biochemical Genetics I
 
Biochemical Genetics II
 
Biochemical Genetics II
 
Biochemical Genetics II
 
Biochemical Genetics/Legal Ethical/Public Health/Perinatal Platform Presentations
 
Biology & Classification of Early Life Epilepsies
 
Brain Creatine and Autism: Can Therapy Change the Outcome?
 
Cancer Genetics I
 
Cancer Genetics I
 
Cancer Genetics I
 
Cancer Genetics II
 
Cancer Genetics II
 
Cancer Genetics II
 
Cancer Genomics: Upgrading Personalized Medicine
 
Cancer Prevention and Screening for Children at Hereditable Risk
 
Cancer/Genetic Counseling/Education Platform Presentations
 
Cardiac Abnormalities in Infants with Abnormal Chromosome Microarray
 
Cardinal Signs of Selected Syndromes
 
Cardinal Signs of Selected Syndromes
 
Cardiovascular Effects of FLNA mutation
 
Careers in Medical Genetics - An Informational Session for Students
 
Case Studies
 
Cell Biology/Genomics
 
Cell Biology/Genomics
 
Cell Biology/Genomics
 
Challenges and Accomplishments of Exome and Genome Sequencing
 
Challenges for Genetics Professionals Reporting and Counseling for Homozygosity
 
Challenges in Sequence Analysis and Interpretation by Expert Committee
 
Changes in Specialists' Perspectives on Cancer Genetic Testing, Prophylactic Surgery and Insurance Discrimination: Then and Now
 
Characterizing Family History of Heart Disease in High-Risk Women
 
Classic and New Approaches to Variant Interpretation in the Genomic Era
 
Classification and Genetics of Limb Deficiency Disorders
 
ClinGen: The Clinical Genome Resource
 
Clinical and Laboratory Genomics: What to Expect for Coverage, Reimbursement, and Policy Decisions by Payers
 
Clinical Application of Genomic Assays in the Diagnosis of Pediatric Brain Tumors
 
Clinical Cytogenetics
 
Clinical Cytogenetics
 
Clinical Cytogenetics
 
Clinical Cytogenomics of Cancer
 
Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum
 
Clinical Genetics Platform Presentations
 
Clinical Genetics Platform Presentations
 
Clinical Interpretation of Genome Sequences in Healthy Individuals
 
Clinical Molecular Genetics
 
Clinical Molecular Genetics
 
Clinical Molecular Genetics
 
Clinical Molecular Testing for Inborn Errors of Cobalamin Metabolism
 
Clinical Re-Sequencing for the Diagnosis of Mitochondrial Disorders Reveals High Genetic Heterogeneity
 
Clinical Utility of Exome and Genome Sequencing
 
Clinical Validation of a Novel Combinatorial Algorithm that Predicts Pathogenicity of Human Missense Variants with High Accuracy
 
Clinical Whole Exome Sequencing: A Peek Inside the Epigenetic Regulation and Syndromic Neurological Disorders
 
Clinical Whole Exome Sequencing: Results and Outcome of First 250 Reported Clinical Cases
 
Closing Comments
 
Closing Plenary Session: Therapies for Genetic Diseases: New Options - References Only
 
CLOSING PLENARY: Reimbursement for Genomic Medicine in 2013 and Beyond
 
Closing Remarks
 
Coffin-Siris Syndrome
 
Commercial Results of a Cell-Free DNA (cfDNA) and SNP-Based Non-Invasive Prenatal Aneuploidy Test (NIPT)
 
Communicating Complex Information with Providers
 
Comprehensive Molecular Diagnosis of Leber Congenital Amaurosis Patients by Targeted Next-Generation Sequencing and Clinical Re-Investigation
 
Comprehensive Population Screening in the Ashkenazi Jewish Population for Disorders with Known Founder Mutations
 
Computer-Aided Recognition of Facial Attributes Associated with FASD
 
Computer-Assisted Diagnosis of Amino Acid Disorders
 
Concordance and Utility of Genomic Microarray Data for Leukemia: Results from a Pilot COG Study
 
Considerations before Publication and Choosing a Journal
 
Controversies Surrounding Expanded Carrier Screen Panels
 
Coping with Mitochondrial Disease
 
Copy Neutral Mosaicism/Chimerism in Prenatal SNP Microarray Analysis
 
Course Objectives
 
Current Challenges Faced by Newborn Screening Programs
 
Cystinosis: Clinical Overview
 
Cystinosis: Emerging Factors in Pathophysiology and Therapy
 
Dave Rimoin - A Pioneer: New Directions in Skeletal Research
 
Day of Caring
 
Delivery of Genetic Consultative Services by Telephone
 
Delivery of Genetic Consultative Services by Video Teleconferencing (Telegenetics)
 
Developmental and Genetic Classification of Malformations of Cortical Development
 
Developmental Brain Dysfunction: Rethinking 'Penetrance' in Genetic Neurodevelopmental and Psychiatric Disorders
 
Developmental Brain Dysfunction: Revival and Expansion of Old Concepts Based on New Genetic Evidence
 
Developmental Genetics
 
Developmental Genetics
 
Developmental Genetics
 
Diagnostic Dilemmas (Rare Knowns and Unknowns)
 
Diagnostic Dilemmas (Rare Knowns and Unknowns)
 
Diagnostic Work-Up of Cognitive Decline and Deterioration in the Adult
 
Diagnostic Yield of a Comprehensive, Tiered a Approach for the Genetic Evaluation of Autism in a Cohort of Samples Referred to a Clinical Laboratory
 
Differences in BRCA Counseling and Testing Practices Based on Ordering Provider Type
 
Discordant Aneuploidy FISH and Fetal Karyotype: A Review of Five Cases
 
Discussion/Questions & Answers
 
Distal ARGY Syndromes
 
DNA Meets DSM: Shifting the Focus from Dichotomous to Continuous Neuropsychological Traits
 
Duty to Report: Ethical/Legal Issues When Excessive Homozygosity Suggests Parental Incest or Abuse
 
Dysmorphic Syndromes with Cancer Risks: Beyond the Usual Suspects
 
Efficacy of a SNP Microarray For The Analysis Of Patients Diagnosed With Autism: Detection of Copy Number and Copy-Neutral Changes
 
Endeavors Abroad with the African Pygmies: David Rimoin's Contributions to our Understanding of Growth Hormone Today
 
Establishing Best Practice Guidelines
 
Establishment of a SNP Microarray for the Routine Analysis of Neoplasia: A New Paradigm
 
Ethics in Publishing and Reviewing
 
Evaluation and Management of Recurrent Pregnancy Loss
 
Evaluation and Patient Perspective
 
Evaluation of Prenatal Diagnosis by Conventional Cytogenetics Including Karyotyping and FISH at the Greenwood Genetic Center: A 10 Year Retrospective Study
 
Exam Workshop
 
Exam Workshop
 
Exam Workshop
 
Exam Workshop
 
Exam Workshop
 
Exam Workshop
 
Exome Sequencing for Diagnosis of Disorders of Sex Development
 
Expanded Carrier Screening: Genetic Counselors' Perspectives with Early Clinical Availability
 
Expanding Clinical Phenotypes: Exome Sequencing Reveals Much Wider Phenotypic Spectrum Than Do Most Clinical Diagnostic Criteria
 
Expansile Ankylosing Skeletal Disease: Identification of the IFITM5 Mutation that Causes Osteogenesis Imperfecta, Type V
 
Experience with Informed Consent for Whole Exome Sequencing in Children
 
Experience with the Deposition and Use of Clinical Variant Annotations in ClinVar
 
Experiential Learning via Community Service
 
Exploring a Career in Genetic Counseling
 
Exploring Clinical Sequencing: What Have We Learned?
 
Factor V/Prothrombin Mutation Testing and Recurrent Pregnancy Loss: A Structured Evidence Review
 
Failure to Identify Fetal Congenital Contractures and Akinesia - A Proposal for How to Improve Antenatal Diagnosis of Movement Disorders
 
False-Negative NIPT and Potential Implications for Genetic Counseling
 
False-Positive Noninvasive Prenatal Testing Results in a Patient Subsequently Diagnosed with Metastatic Disease
 
Familial Joint Hypermobility Syndrome
 
Families' Genetic Counseling Experiences Following a Positive FMR1 Newborn Screen
 
Finishing the Exome: The Medical Exome Project
 
Four Hours with Patrick - What My Preceptor Never Taught Me in the Clinic
 
FOXG1 Syndrome: A Recognizable Syndrome in its Own Right
 
Fragile X AGG Analysis Refines the Risk Estimation of CGG Repeat Expansion in the FMR1 Gene
 
Frequency and Significance of Elevated Gamma-Hydroxybutyric Acid (GHB) in Children with Severe Gastrointestinal Disease and Suspected Succinic Semialdehyde Dehydrogenase (SSADH)
 
Frequent Detection of Consanguinity by CGH+SNP Array in Children with Developmental Disorders
 
From Gene Discovery to Gene Therapy: Duchenne Muscular Dystrophy and Other Neuromuscular Disorders
 
From Guidelines to Clinic: Incorporating Pharmacogenetics into Clinical Practice and the Electronic Health Record
 
Genetic Analysis of Complex Traits
 
Genetic Conditions Associated with Assisted Reproductive Technologies
 
Genetic Counseling & Risk Assessment
 
Genetic Counseling & Risk Assessment
 
Genetic Counseling & Risk Assessment
 
Genetic Medicine in Uganda - The Children's National Medical Center and NIH Experience
 
Genetic Predisposition to Statin Myopathy
 
Genetic Risk Stratification of the Myelodysplastic Syndromes
 
Genetic Syndromes Manifesting in the Neonatal Period - Do They Have a Specific Neonatal Phenotype?
 
Genetic Transmission
 
Genetic Transmission
 
Genetic Transmission
 
Genetics and Schizophrenia
 
Genetics of Dystonia
 
Genetics of Epilepsy
 
Genetics of Muscular Dystrophy
 
Genetics of Sudden Cardiac Death and Heart Failure in Adolescents and Young Adults
 
Genetics Professionals Working in Non-Genetics Specialty Clinics
 
Genomes Management Application (GEMapp): A New Web Tool for Large-Scale Collaborative Genome Analysis
 
Genomic Aberrations Predictive of Early Recurrence in Prostate Cancer: A Three-Marker FISH Panel Study
 
Genomic Contributors to Neurodevelopmental and Psychiatric Disorders
 
Genomic Medicine
 
Genomic Medicine
 
Genomic Medicine
 
Genomic Testing and the Potential Impact on the Newborn Screening Paradigm
 
Genomics for the Healthy: Opportunities and Challenges in Applying Genomics to the Sphere of Public Health - R. Rodney Howell Symposium
 
Genotype to Phenotype: A New Paradigm in the Clinical Setting
 
Genotype-Phenotype Correlations and Penetrance in the Setting of Genome Based Screening
 
Glut1 Deficiency and other Metabolic Causes of Microcephaly - Recognizing Treatable Conditions
 
Glycosylation - Modification of Proteins Affects Morphogenesis
 
Hens to Hedgehogs: Birth Defects in Sterol Disorders
 
Highlights Plenary: Big Data Meets Big Sequencing - A Vision for the Future
 
Homozygosity Revealed through Whole-Genome Interrogation: Analytical and Interpretive Considerations
 
How Should Physicians Integrate the New Variant Classification Guidelines into Clinical Care?
 
Impact of Ancillary Genetic Testing on the Diagnosis of Soft Tissue and Bone Tumors: a Review of 50 Cases that Required External Consultation
 
Impact of Recent Advances in Genetics and Genomics on Neonatal Genetics
 
Implementation of Next-Gen Cytogenetics in Prenatal Diagnostics Using Jumping Libraries
 
Implementing Microarray Based Comparative Genomic Hybridization for Prenatal Diagnosis
 
Improving Genetic and Genomic Test Utilization - A Team Approach
 
Inborn Errors of Metabolism and the Brain - What You're Seeing In Your Practice Even If You Don't Recognize It
 
Incidence of 22q11.2 Chromosome Anomalies in Products of Conception (POC): Analysis of Over 2500 Miscarriage Samples
 
Increased Prevalence of Complications in CFTR Heterozygotes
 
Interpretation Can't Happen in Isolation
 
Interpretation of Pathogenicity and Recent Progress of the Human Variome Project
 
Introduction
 
Introduction
 
Introduction - Clinical Cytogenomics of Cancer
 
Introduction - R. Rodney Howell Symposium
 
Introduction - Why the Genetic Team Gets Called to See a Neonate
 
Introduction and Overview of Arthrogryposis and Related Fetal Movement Disorders
 
Introduction to Course
 
Introduction to Course
 
Introduction to Course
 
KBG Syndrome
 
Krabbe Disease: What Can We Learn From Newborn Screening for Lysosomal Storage Disorders
 
Lanosterol Demethylase Deficiency: A New Disorder of Cholesterol Biosynthesis
 
Lessons Learned from Experience of NGS-based Target Gene Analyses for Clinical Diagnosis
 
Liver Disease in Adults
 
Loeys-Dietz and Shprintzen-Goldberg Syndrome: Arterial Failure from TGF-beta Pathway Alteration
 
Long-acting Cysteamine
 
Loss, Gain, and Things that Look the Same: Maximizing the Clinical Utility of Areas of Homozygosity
 
Low Branched-Chain Amino Acids in a Large Population of Patients with Urea Cycle Disorders Treated with Sodium Phenylbutyrate
 
Managing Positive Newborn Screens for Lysosomal Storage Disorders
 
Manifesting Heterozygotes in Autosomal Recessive Disorders
 
March of Dimes Clinical Genetics Conference - Interdisciplinary Approach to Disorders of Sex Development: From Genes to Quality of Life
 
March of Dimes Clinical Genetics Conference - Prader-Willi Syndrome - New Insight into a Classic Genetic Disorder
 
March of Dimes Colonel Harland Sanders Award Presentation
 
Maternal Morbidity and Mortality in Vascular Ehlers-Danlos Syndrome (EDS type IV)
 
Medical College of Wisconsin Experience: Reimbursement Successes and Failures in "In House" WES/WGS
 
Memorial to David L. Rimoin, MD, PhD, FACMG
 
Mendelian Disorders: Not That Simple After All - Experience From HHT
 
Mendelian Forms of Common Diseases Reveals Insights Into the Pathogenesis and Treatment for Complex Phenotypes
 
Metabolic Disorders.
 
Microvesicle-mediated Transfer of Lysosomal Transport Proteins
 
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium: A Global Grass-Roots Community Effort to Compile, Organize, Annotate, and Analyze Whole Exome Datasets from Individuals with Suspected Mitochondrial Disease
 
Mitochondrial Disease: The Yellow Brick Road to Diagnosis
 
Molecular and Clinical Spectrum of Inborn Errors of Trace Element and Mineral Metabolism
 
Molecular Biology
 
Molecular Biology
 
Molecular Biology
 
Molecular Diagnosis of Low and High Bone Mineral Density Disorders by Massively Parallel Sequencing
 
Molecular Diagnostics of Cancer
 
Molecular Genetics / Exome / Cytogenetics / Therapeutics Platform Presentations
 
Molecular Genetics / Exome Platform Presentations
 
More Than Skin Deep: Clinical Presentation, Diagnosis, and Treatment of Inherited Skin Disorders
 
NAMA at the ACMG: The Best of the North American Metabolic Academy
 
Nance-Horan Syndrome
 
Native American Myopathy is an Arthrogryposis Syndrome with Susceptibility to Malignant Hyperthermia Caused by Mutation in STAC3
 
Navigating Research Directions and National Collaboration in Fragile X
 
Neurogenetics
 
Neurogenetics
 
Neurogenetics
 
Neuroimaging in Genetic Conditions
 
Neuroimaging of Metabolic Disorders: Past, Present and Future Advances
 
Newborn Screening
 
Newborn Screening
 
Newborn Screening
 
Newborn Screening (NBS) for Krabbe Disease - A Comparative Effectiveness Study
 
Newborn Screening and Health Disparities in the Genomic Era
 
Newborn Screening: Defining the Need for Clinical Research
 
Newborn Screening: From Simple Beginnings to a Great Public Health Achievement
 
Next Generation Sequencing of a Thousand Nuclear Mitochondrial Genes
 
Next Generation Sequencing of Solid Tumors in the Clinical: A Cohort of Brain and Melanoma Tumors
 
Next-Generation Sequencing Cancer Panels - Breast, Ovarian and Endometrial Cancers as well as a Specific Colon Cancers
 
Next-Generation Sequencing of Chromosome Duplications Reveals Genomic Organization and Genes Disrupted at Breakpoints
 
Non-Invasive Prenatal Screening: A Cytogenetic Perspective
 
Noninvasive Detection of Fetal Sub-Chromosomal Copy Number Variation (CNV) Using Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA (cfDNA)
 
Obtaining Truly Informed Consent and Allowing for Patient Preferences
 
Of Mice and (Wo)men: A Geneticist's Tale
 
Optimizing Ammonia (NH3) Control in Urea Cycle Disorder (UCD) Patients: A Predictive Model
 
Oral Platform Presentations - Biochemical and Therapies
 
Oral Platform Presentations - Cancer Genetics
 
Oral Platform Presentations - Cytogenetics
 
Oral Platform Presentations - Genetic Testing and Insurance Issues
 
Oral Platform Presentations - Neurogenetic Disorders and Whole Exome Sequencing
 
Oral Platform Presentations - New Causes for Intellectual Disability/Neurodevelopmental Disorders
 
Oral Platform Presentations - Prenatal/Perinatal
 
Oral Platform Presentations - Whole Exome Sequencing
 
Oral Platform Presentations - Whole Exome Sequencing
 
Oral Platform Presentations: Molecular Genetics
 
Outcome of Patients with 3-MCC Deficiency from the Inborn Errors of Metabolism Information System (IBEM-IS) Database
 
Overview of Calculating the Delivery Costs: Technical Cost, Provider Cost, Incidental Costs
 
Overview of Pediatric Cancer Predisposition Syndromes Across the Ages: Counseling and Management from Before Birth Through the Teenage Years
 
Overview of the ACMG/AMP/CAP Interpretation of Sequence Variants Guideline
 
Pallister-Killian Syndrome
 
Panel Discussion and Audience Participation
 
Patients' Views on Incidental Findings from Clinical Exome Sequencing
 
Pediatric Cancer Genomics: The Future of Diagnostics and Novel Therapeutics
 
Performance of Next-Generation Sequencing Versus Targeted Genotyping for Population Carrier Screening
 
Peroxisome Biogenesis Disorders: Paradigm for Metabolic Malformation Syndromes
 
Point/Counterpoint: One Year Later - The Influence of the ACMG Recommendations for Reporting of Incidental Findings in WES/WGS
 
POLG1-Related Conditions
 
Polyglutamine Tract Diseases
 
Positive Cell-Free Fetal DNA Testing for Trisomy 13 Reveals Confined Placental Mosaicism
 
Pregnancy Outcomes Following Prenatal Diagnosis of Congenital Anomalies
 
Prematurity, Prenatal and Perinatal Environment and their Short and Long Term Genetic Effects
 
Prenatal Chromosomal Microarray Analysis: Genetic Counselors' Practices and Perceptions
 
Prenatal Diagnosis of the Skeletal Dysplasias: Never Make Assumptions, Always Make Assumptions - David L Rimoin's Words of Wisdom
 
Prenatal Diagnostic Dilemmas
 
Prenatal Presentations of IEM in Genetics: Recognizing Ultrasound Clues to Metabolic Disorders
 
Prenatal/Perinatal Diagnostic Dilemmas
 
Presentation of 2013 ACMG Foundation Awards
 
Presentation of 2014 ACMG Foundation Awards and Colonel Harland Sanders Award
 
Presentation of the 2013 ACMG Foundation and March of Dimes Awards Presidential Plenary Session: Gene is to Genome as Picture is to Motion Picture
 
Presentation of the 2014 ACMG Foundation and March of Dimes Awards and Presidential Plenary Session: Genetics and Genomics; Then and Now
 
Presidential Plenary - The Practice of Medical Genetics: Myths and Realities Presentation of the 2016 ACMG Foundation and March of Dimes Awards
 
Presidential Plenary Session: Gene is to Genome as Picture is to Motion Picture
 
Presidential Plenary Session: Translating Allelic Heterogeneity to Clinical Practice: The CFTR2 Project
 
Presidential Plenary: Genetics and Genomics, Looking to the Future
 
Prevalence and Patterns of Care Models for Clinical Genetic Consultative Services in a Large, Integrated Healthcare System
 
Pro/Con: The Debate Around Direct-Access-Testing Robert C. Baumiller Symposium
 
Progress in Developing Curated Sequence Variant Content in NCBI's ClinVar Database
 
Pruzansky Lecture: The Spectrum of Vascular Anomalies in Disorders of the P13K-AKT Pathway
 
Pruzansky Lecture: Unlocking the Secrets of the Skeletal Dysplasias: A Journey Inspired by David Rimoin
 
Psychiatric Presentation of Adult Inborn Errors of Metabolism
 
Quality of Clinical Sequence Data for Medically Relevant Targets
 
Questions & Answers - Arthogryposis and Related Fetal Movement Disorders
 
Questions and Panel Discussion
 
Questions for the Panel
 
R. Rodney Howell Symposium: Care Models for the Delivery of Clinical Genetics and Genomics Services
 
Real-Life Perspectives in Treatment of Cancer Patients Using Advanced Genomic Technologies
 
Recording Genomic Variation and Defining Clinical Relevance
 
Registration Requirements Evaluation
 
Reporting Phenotype: Speaking the Same Language
 
Reproductive Genetics
 
Reproductive Genetics I
 
Reproductive Genetics I
 
Reproductive Genetics I
 
Reproductive Genetics II
 
Reproductive Genetics II
 
Reproductive Genetics II
 
Reproductive Genetics: Implications of the Latest Technologies
 
Return of Preemptive Clinical Pharmacogenetic Results to Patients
 
Revisiting the Ethical Foundation and Implications of 'Duty to Recontact'
 
Revisiting the Implications of 'Duty to Recontact' for the Clinical Geneticist and other Clinicians
 
Revisiting the Implications of 'Duty to Recontact' for the Genetics/Genomics Laboratory
 
Rising to the Level of Clinical Importance: Challenges to Adjudicating and Reporting Variants Discovered with Genomic Analysis
 
Saudi Birth Defects Registry: Lessons from the First Systemic Analysis of the Birth Defects Pilot Study in Saudi Arabia
 
Screening for Lysosomal Storage Disorders Using an Integrated Enzymatic and Molecular Approach
 
SER: Analysis and Synthesis of Data
 
Simulated Dosing of Glycerol Phenylbutyrate (GPB) and Sodium Phenylbutyrate (NaPBA) Predicts Systemic Phenylacetic Exposure in Adult and Pediatric Patients with Urea Cycle Disorders
 
Simulation of False Positive and False Negative Rates from NIPS using Discrepant Cytogenetic Results between Direct Preparations and Long Term Cultures Obtained from Chorionic Villi Sampling.
 
Skeletal Dysplasias
 
Smith-Lemli-Opitz Syndrome
 
Special Satellite Meeting - Bumps in the Road: Novel and Innovative Ways for Ensuring Access to Care: A Community Conversation
 
Special Satellite Meeting: From "Undiagnosed' to Contributing to the Utah Population Database: How Researchers and Families are Partners in Building and Growing a Worldwide Genealogical Database
 
Standardizing Reports and Structuring Results: Transitioning from Sanger to Next Generation Sequencing
 
Standing at the Crossroads: The Intersection of Pediatric Oncology and Clinical Genetics
 
Stem-Cell derived Microvesicle-mediated Transfer of Cystinosin
 
Stem-Cell Transfer of Cystinosin
 
Susceptibility for Cancer in Fanconi Anemia and ATM Heterozygotes
 
Syndrome Specific Specialty Clinics and Networks: Enhancing Care and Research
 
Systematic Evidence Review (SER): Objectives & Methods
 
Systems-Based Disorders I
 
Systems-Based Disorders I
 
Systems-Based Disorders I
 
Systems-Based Disorders II
 
Systems-Based Disorders II
 
Systems-Based Disorders II
 
Targeted Next-Generation Sequencing Panels - Criteria for Establishing Clinical Utility
 
Targeted Treatment and Best Clinical Practices
 
Targeted Treatment for the Underlying Disorder in Fragile X Syndrome
 
Telemedicine for Genetic Consultation in a Neonatal Intensive Care Unit
 
test session
 
The ACMG Evidence-Based Guideline Development Process
 
The Aorta in Turner Syndrome
 
The BabySeq Project: Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
 
The Changing Landscape of Clinical Guideline Development
 
The Disorders of Glycine Metabolism
 
The Ethical Challenges of Reporting Exome Results
 
The Evolution in Counseling Fragile X Syndrome and Associated Disorders
 
The Explore Genetics Program: Inspiring the Future
 
The Faces of IEM - Dysmorphology and Birth Defects in the Inborn Errors
 
The ICCG 180K Chromosomal Microarray Design: Results of an Evidence-Based Review
 
The Important Role of Genetic Professionals in Delivery of Genetic Services
 
The Next Generation of Genomic Testing: Billing and Reimbursement in the Genomic Era
 
The Review Processs
 
The Right Test for the Right Patient at the Right Time: Working with Your Institution to Make Genetic Testing Useful
 
The Spectrum of Hyperinsulinism in Mosaic Beckwith-Wiedemann Syndrome: Dissection of 11p15 Paternal Uniparental Isodisomy
 
The Use of Whole Exome Sequencing to Provide a Diagnosis of Cornelia de Lange Syndrome on Products of Conception
 
The Zen of Variant Interpretation
 
Things We Don't Always Teach in Genetics Residency: A Toolkit for Trainees and Mentors
 
Thyroid Cancer in Alkaptonuria
 
Tools and Approaches to Assess the Genetic Basis of Disease
 
Toriello-Carey Syndrome
 
Training Pathways to Medical Genetics
 
Translating Evidence into Recommendations
 
Treatments for Vascular Anomalies
 
Twenty Years of Neural Tube Defect Surveillance and Prevention in South Carolina
 
Universal Screening for Lynch Syndrome and the Role of the Lynch Syndrome Screening Network
 
Update in Teratogens: Opiates, Dexamethasone, SSRIs and Environmental Exposures
 
Update on Syndromes with Brain Malformations
 
Urorectal Septal Malformations
 
Use of the ACMG Guideline for Microarray Analysis for Chromosome Abnormalities in Neoplastic Disorders to Validate and Institute Prognostic Testing for Chronic Lymphocytic Leukemia and for Diagnostic Testing for Renal Epithelial Neoplasms
 
Using Public Databases and In Silico Tools as Resources for Variant Classification
 
Utilization and Findings of Chromosomal Microarray Analysis (CMA) in Patients with Ambiguous Genitalia
 
Utilization of a High Resolution SNP Array for the Delineation of Copy Number and Copy-Neutral Changes in Myeloid Disorders
 
Weaver Syndrome
 
Welcome
 
Welcome & Introductions - Plenary Session
 
Welcome - 44th Annual March of Dimes Clinical Genetics Conference
 
Welcome and Schedule
 
Welcome to Medical Genetics Clinic
 
What Lies Beneath: A Novel Inborn Phospholipid Metabolic Disorder Causing Spinocerebellar Ataxia with Hypogonadism (Boucher-Neuhauser Syndrome)
 
What's New in TSC and NF1? An Update Including the Latest Regarding Diagnosis, Surveillance and Therapies
 
When it Hurts - Metabolic Differential Diagnosis of Myopathy and Rhabdomyolysis (Statin Myopathy, McArdle, CPT2 Deficiency, Mutations in Cytochrome b Gene)
 
Whole Exome and Genome Sequencing to Identify Familial B Cell Malignancy Risk Genes
 
Whole Exome Sequencing: The Cleveland Clinic Experience
 
Whole Genome Analysis Consent and Prenatal Findings: An Open Forum on Return of Genetics Results
 
Whole Genome Analysis or Whole Exome Sequencing of Newborn Dried Blood Spot DNA for Medically Actionable Neurometabolic Disorders - R. Rodney Howell Symposium
 
Wrap Up - Approaches to ARGY
 
Writing the Manuscript
 
X-linked and Anterior Horn Cell Syndromes
Browse All Speakers
 
R. Moran
 
M. Dorschner
 
Omar Abdul-Rahman
 
Nicholas Abend
 
Brett Abrahams
 
Dominic Abrams
 
Jenica Abrudan
 
Margaret Adam
 
Denise Adams
 
D. Adams
 
Adewale Adeyinka
 
Pankaj Agrawal
 
Nadav Ahituv
 
Ayesha Ahmad
 
S. Ajay
 
Rosemary Akhurst
 
Yassmine Akkari
 
Yassmine Akkari
 
Christina Alamillo
 
John Alexander
 
Ahmad Alhariri
 
Amal Alhashem
 
Fowzan Alkuraya
 
Fowzan Alkuraya
 
R. Allen
 
Adnan Alsadah
 
David Altshuler
 
Ina Amarillo
 
Laura Amendola
 
Laura Amendola
 
Laura Amendola
 
L. Amendola
 
Zineb Ammous
 
E. Andersen
 
Michael Anderson
 
Rebecca Anderson
 
Hans Andersson
 
Elisa Andrade Scavone
 
Misha Angrist
 
Arunkanth Ankala
 
EVS 6500 Annotation Consortium
 
Swaroop Aradhya
 
V. Arboleda
 
Holly Ardinger
 
Aishwarya Arjunan
 
Joanne Armstrong
 
Georgianne Arnold
 
Georgianne Arnold
 
Georgianne Arnold
 
J. Aronson
 
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