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American College of Medical Genetics and Genomics

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2016 Annual Clinical Genetics Meeting
MODULE: 2013 ACMG 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 - 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
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 & 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
L. Amendola
Laura Amendola
Laura 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
David Ascher
Elena Ashkinadze
Elena Ashkinadze
Allison Ashley-Koch
Paldeep Atwal
C. Austin
Jehannine Austin
Ayala Aviram
Arthur Aylsworth
Dusica Babovic-Vuksanovic
Dusica Babovic-Vuksanovic
Kristine Bachman
C. Bacino
D. Bailey
M. Bainbridge
Komal Bajaj
Robin Baker
T. Balci
Sherri Bale
S. Bale
Sherri Bale
D. Barbouth
F. Bartel
Anne Bassett
Lisa Baumbach-Reardon
Rajiv Baveja
R. Baxter
Pinar Bayrak-Toydemir
Lora Bean
Lora Bean
A. Beaudet
C. Beaulieu
Emma Bedoukian
Geoffrey Beek
Alan Beggs
Mir Reza Bekheirnia
M. Bekheirnia
Tawfeg Ben-Omran
Melissa Bennett
R. Bennett
Jonathan Berg
Jonathan Berg
B. Bernhardt
Barbara Bernhardt
Susan Berry
Susan Berry
Elizabeth Berry-Kravis
Elizabeth Berry-Kravis
D. Hunter Best
J. Beuten
T. Bhatti
W. Bi
D. Bianchi
Diana Bianchi
Diana Bianchi
David Bick
David Bick
Jaclyn Biegel
Leslie Biesecker
Leslie Biesecker
Leslie Biesecker
Deborah Bilder
Ozge Birsoy
Aaron Black
Natalie Blagowidow
Miriam Blitzer
Miriam G. Blitzer
Catherine Blumhorst
Olaf Bodamer
O. Bodamer
Dale Bodian
Eric Boerwinkle
R. Boles
D. Bonadies
K. Boycott
Linda Bradley
Herb Brar
Nancy Braverman
A. Braxton
Lesley Breech
A. Breman
K. Brierley
Melissa Brisman
Ulrich Broeckel
Jonathan Bromberg
Jeffrey Brosco
Shelby Brown
D. Bruno
David Buckley
Christian Buhay
F. Bukhari
D. Bulman
C. Bupp
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