Videos

constitutional genetic disorders

2022 symposium presentations

Constitutional Cytogenomics Panel Discussion
Alka Chaubey, PhD, FACMG; Alexander Hoischen, PhD; M. Anwar Iqbal, PhD, FACMG; Chaim Jalas; Laila El-Khattabi, PharmD, PhD; Nikhil S. Sahajpal, PhD; Shirley Heggarty, PhD
Clinical Utility of Optical Genome Mapping in a Constitutional Cytogenetics Laboratory
Shirley Heggarty, PhD
Belfast Health and Social Care Trust
Enhanced Structural Variation Detection with Optical Genome Mapping in Constitutional Disorders
Nikhil S. Sahajpal, PhD
Augusta University
Balanced Translocations Associated with Male Infertility: How Optical Genome Mapping Could Lead to New Discoveries
Laila El-Khattabi, PharmD, PhD
Cochin Hospital, Assistance Publique Hopitaux de Paris
Clinical Validation of Optical Genome Mapping for Preimplantation Genetic Diagnosis – Structural Rearrangement (PGD-SR) Applications
Chaim Jalas
The Foundation for Embryonic Competence
Optical Genome Mapping of Difficult Structural Variant Types – Repeat Expansions
Alexander Hoischen, PhD
Radboud UMC
Validation Study of Optical Genome Mapping for Postnatal and Prenatal Clinical Testing according to Established NYSDOH Guidelines
M. Anwar Iqbal, PhD, FACMG
University of Rochester Medical Center