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 - Genetic Counseling for Prenatal Diagnostic Testing
View Only-Adult Genetics in the Pacific Northwest: The View from Seattle
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 - 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
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
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
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
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 - 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
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 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
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
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
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
2023 ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board OnDemand Series
Alternative Pathway to Board Certification in Laboratory Genetics and Genomics Training Program - Final Cohort 2024-2025
2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
PPM - Down Syndrome
PPM - Abnormal Prenatal Screening for Aneuploidy or Open Neural Tube Defects (ONTD)
2023 ACMG Genetics and Genomics Review Course (Online)
2023 Genetics and Genomics Review Course PRINTED Syllabus
2023 Digital Edition - Student Sessions
2023 Qbank - My Personal Practice Exam
2023 ACMG Genetics and Genomics Review Course - Digital Edition
Self-Report for First Author Published Peer Reviewed Article CME
NCC Knowledge Nugget Series: MPS II ACT Sheet
NCC Knowledge Nugget Series: GAMT ACT Sheet
NCC Knowledge Nugget Series: Krabbe ACT Sheets
ClinGen Actionability Community Curation Module - Version 2023
PPM - Assessment for and Management of Lynch Syndrome
PPM - Prenatal Genetic Screening for Fetal Aneuploidy
Self-Report for First Author Published Peer Reviewed Article CE
September 26, 2023 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case
October 24, 2023 - ClinGen Somatic Cancer and VICC Virtual Molecular Tumor Board Case
NCC Knowledge Nugget Series: Pompe Disease ACT Sheet
NCC Knowledge Nugget Series: MCAD ACT Sheet
NCC Knowledge Nugget Series- Classic Galactosemia ACT Sheet
Call for Abstract Reviewers for 2024 ACMG Annual Clinical Genetics Meeting
Code of Conduct