PPM - Autism
View Only - Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network
View Only-Clinical Utility of Whole Exome Sequencing in a Patient with Recurrent Infections
View Only- The Importance of the X in eXome
View Only-Mile-High Genetics: Adult Medical Genetics Cases
View Only- Adult Genomic Case Conference hosted by Emory University School of Medicine
View Only- Three Years of WES Clinical Services at CCHMC
View Only- Adult Genomic Case Conference Hosted by Baylor College of Medicine
View Only- Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine
View Only- Ehlers-Danlos Syndrome Hypermobile Type in Children: Differential Diagnosis and Recommendations for Management
View Only- Beyond Exomes: Going the Extra Mile
View Only- Genomic Diagnosis for Children with Developmental Delay/Intellectual Disability
View Only- Adult SIG Genomic Case Conference-University of Washington Adult Genetic Medicine Clinic
View Only- Spinal Muscular Atrophy: A Timely Update
View Only- Next-Generation Sequencing for Somatic Variant Detection in Patients with Overgrowth and Related Disorders
View Only- Spectrum of Positive Findings Encountered During Expanded Carrier Screening
View Only- Matchmaker Exchange: Solving Unsolved Cases
View Only- P3EGS – Expanding Exomes to the Underserved
View Only- The Cost-effective Medical Exome Based Diagnostic Test in China and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex Development
View Only- New Disease Gene Discoveries – Genetic and Functional Evidence
View Only- Newborn Sequencing Cases from the NSIGHT BabySeq Project
View Only- Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS Panels
View Only- Molecular Genetics of the Neurofibromatoses and Overlapping Disorders
View Only- Solving the Unresolved: A Systematic Approach to WES Negative Patients in the Undiagnosed Diseases Network
View Only-Clinical Utility of Mate Pair Sequencing
View Only- Nuances of Mitochondrial Testing
View Only-High Resolution Mass Spectrometry and Glycosylation Disorders
Specialty Training Course in Cytogenetics and Molecular Genetics and Genomics OnDemand
View Only- RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management
PPM - Assessment and Management of Fragile X Syndrome
PPM - Evaluation of Abnormal Maternal Serum Screening
PPM - Genetic Counseling for Prenatal Diagnostic Testing
PPM - Assessment for and Management of Lynch Syndrome
View Only-Adult Genetics in the Pacific Northwest: The View from Seattle
PPM - Prenatal Genetic Screening for Fetal Aneuploidy
View Only-Comprehensive Genetic Testing Informs Diagnosis and Facilitates Management in Patients with Kidney Diseases
PPM - Achondroplasia Evaluation and Management
PPM - 22q11.2 Deletion Syndrome
PPM - Down Syndrome
PPM - Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy)
PPM - Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency
PPM - Turner Syndrome/Klinefelter Syndrome
PPM - Prenatal Cell-Free DNA Screening
PPM - Carrier Screening
PPM - Neurofibromatosis Type 2 (NF2)
Student and Trainee Resources
View Only- Integration of Genome: Wide Methylation Analysis with Transcription Analysis and Genome Sequencing Enables Molecular Diagnosis in a Patient with CHARGE syndrome
2020 ACMG Annual Clinical Genetics Meeting - Digital Edition
View Only- Nonimmune Hydrops: Clinical Utility of Prenatal Exome Sequencing
View Only- Cloning 22q - What’s it to You?
2020 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
2020 ACMG Annual Clinical Genetics Meeting Digital Edition
View Only- Expanding the Etiology of Holoprosencephaly with Next Generation Sequencing
View Only- Telegenetics Consults and Resources at Your Fingertips
2020 Annual Meeting Exhibit Theaters
Paving the Path Towards a Clinical-Grade HGVS Nomenclature Recorded April 29, 2020
2020 Digital Edition - Student Sessions
Genetic Testing for Hearing Loss and Deafness Drives Tailored Care for the Deaf and Hard of Hearing and their Families- OnDemand
View Only- Genetic Testing for Hearing Loss and Deafness Drives Tailored Care for the Deaf and Hard of Hearing and their Families
ACMG Student Challenge
2020 Satellite Symposia - Free Access
PPM - Cytogenetic Analysis of Newly Diagnosed Acute Leukemia (AML, A-ALL, P-ALL)
PPM - Classic Galactosemia
PPM –Evaluation of the Individual with Early Onset Hearing Loss
2020 Short Course - Prenatal to Postnatal Renal and Genitourinary Anomalies - Genetics, Management and Outcomes - A Joint Course with ISPD
2020 Short Course - Essential Fundamentals - Next Generation Sequencing From The Beginning
PPM –Evaluation and Ongoing Care of Biotinidase Deficiency
ACMG Advocacy
Diagnostic Utility of RNA-Seq in Neurodevelopmental Disorders- OnDemand
Genomic Case Conference Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand
Genomic Case Conference Featuring the 2020 Digital Edition of Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand
View Only- Featuring the 2020 Digital Edition of Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand
View Only- Diagnostic Utility of RNA-Seq in Neurodevelopmental Disorders- OnDemand
View Only- Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand
Laboratory Genetics and Genomics Case Studies
March 23, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
2021 ACMG Annual Clinical Genetics Meeting Digital Edition
NCC Knowledge Nugget Series: SMA ACT Sheet
2021 Updates in Health Disparities in Medical Genetics OnDemand
ClinGen Virtual Retreat 2021 ePoster Gallery
April 27, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
2021 ACMG Student Challenge
PPM –Evaluation of the individual with Suspected Marfan Syndrome
PPM –Neurofibromatosis-Type 1 (NF1)
PPM - BRCA1 and BRCA2-Associated Hereditary Breast and Ovarian Cancer
2021 Short Course - A Clinician’s Perspective on Obesity: Syndromic and Non-Syndromic Causes, Treatment and Challenges
2021 New York Mid-Atlantic Caribbean Regional Genetic Network Annual Meeting: Expanding Access to Genetic Services- Collaboration, Communication, and Connection
2021 Satellite Symposia Digital Edition
May 25, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
June 29, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series -OnDemand
2021 Short Course -Integration of Functional Genomics to Improve Variant Interpretation and Diagnosis
PPM – Chromosome and FISH Analyses of Patients with Suspicion of Turner Syndrome
2021 ACMG Annual Clinical Genetics Meeting - Product Theaters
July 27, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
2021 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
September 28, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
PPM - Cytogenomic Analysis of Newly Diagnosed Plasma Cell Disorders (Multiple Myeloma, MGUS, Plasmacytoma, Smoldering Myeloma)
PPM- Analysis of Urine Organic Acids
October 18, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
Improving Patient Safety: An Imperative in Medical Genetics and Genomics
2021 Digital Edition of the ACMG Foundational Specialty Training in Cytogenetics and Genomics and Molecular Genetics and Genomics (Not accredited)
November 9, 2021- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand- Molecular biomarkers for response to immunotherapy in endometrial cancer
2021 Careers in Medical Genetics
PPM - General Genetics Patient- 2021 Version
PPM - General Genetics Patient Repeat- 2021 Version
PPM - Preconception Genetic Consultation
2022 ACMG Annual Clinical Genetics Meeting Digital Edition
January 25, 2022 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
February 22, 2022 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
Genetics101 for Healthcare Providers
2022 Short Course - Clinical Applications of Long-Read Sequencing: Ending the Diagnostic Odyssey and Increasing Diagnostic Yield
2022 Short Course - Episodic Movement Disorder Phenotype in Children: Approach to Diagnosis, Review and Updates of Selected Conditions
2022 Digital Edition - Student Sessions
2022 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
2022 Diversity, Equity, & Inclusion - Imposter Syndrome: Confronting the Career Development Monster Hiding Under the Bed
PPM -Diagnosis and Management of Adult Patients with Cowden Syndrome
PPM -Counseling for Inherited Cancer Risk
Curating the Clinical Genome 2022 ePoster Gallery
March 29 2022 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
April 26, 2022 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
2022 Medical Necessity Webinar Series - OnDemand
2022 ACMG Annual Clinical Genetics Meeting Exhibit Theaters
NCC Knowledge Nugget Series: X-ALD ACT Sheet
ClinGen Actionability Community Curation Module
2022 ACMG Summer Gene Therapy Education Series OnDemand
Evidence Based Guidelines Webinar 101: Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability - OnDemand
Evidence Based Guidelines Webinar 201: Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability - OnDemand
May 24 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
NCC Knowledge Nugget Series: MPS I ACT Sheet
PPM -Management of Patients with Urea Cycle Disorders
PPM - Interpretation and Reporting of Copy Number Variants Detected by CMA in Constitutional Testing
July 26 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series- OnDemand
2022 New York Mid-Atlantic Caribbean Regional Genetic Network Annual Meeting: Expanding Access to Genetic Services: Sharing Strategies - Finding Solutions
2023 ACMG Annual Clinical Genetics Meeting Digital Edition
PPM - Variant of Uncertain Significance (VUS) Result Updating
2023 ACMG Resident and Fellow Monthly Challenge
September 27 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series - OnDemand
ACMG Student Interest Group Event April 20, 2023
PPM - Medium-chain Acyl CoA Dehydrogenase Deficiency (MCAD)
ClinGen Gene-Disease Validity Curation Module - Version 2023
PPM - Mild Fetal Ventriculomegaly
ACMG Student Interest Group Program OnDemand Series 2023
March 28, 2023- ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case Series
ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board OnDemand Series 2023
Code of Conduct