P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing*

• Andrea Cohen,
• Joel Hughes,
• Clifton Dalgard,
• Paul Kruszka,
• Emmanuele Delot,
• Vincent Fusaro,
• Eric Vilain,
• Maximilian Muenke,
• Seth Berger

Affiliations

Andrea Cohen

National Human Genome Research Institute, National Institutes of Health; Center for Genetic Medicine Research, Children’s National Hospital

Joel Hughes

National Human Genome Research Institute, National Institutes of Health

Clifton Dalgard

Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences

Paul Kruszka

GeneDx/Sema4

Emmanuele Delot

Center for Genetic Medicine Research, Children’s National Hospital

Vincent Fusaro

Invitae Corporation

Eric Vilain

Institute for Clinical and Translational Science, University of California, Irvine

Maximilian Muenke

National Human Genome Research Institute, National Institutes of Health, Retired

Seth Berger

Center for Genetic Medicine Research, Children’s National Hospital