Attending, Department of Cardiology, Boston Children’s Hospital
Instructor in Pediatrics, Harvard Medical School
Dr. Daniel Quiat is a pediatric
cardiologist at Boston Children’s Hospital and an Instructor of Pediatrics at
Harvard Medical School. Dr. Quiat earned his MD and PhD in 2014 from the
Medical Science Training Program (MSTP) at University of Texas Southwestern
Medical Center. Dr. Quiat then completed both his residency and fellowship at
Boston Children’s Hospital, where he is board certified in pediatrics and
pediatric cardiology with specialties in pediatric cardiomyopathies and
congenital heart defects. In addition to his clinical responsibilities, Dr.
Quiat pursues biomedical research in cardiovascular development and genetics in
collaboration with the Seidman Lab at Harvard Medical School
Department of Genetics, with a goal of identifying genetic causes of single
ventricle heart disease and illuminating the role of those genetic factors in
the development of heart failure and other clinical outcomes.
Attending, Department of Cardiology, Boston Children’s Hospital
Instructor in Pediatrics, Harvard Medical School
Dr. Daniel Quiat is a pediatric
cardiologist at Boston Children’s Hospital and an Instructor of Pediatrics at
Harvard Medical School. Dr. Quiat earned his MD and PhD in 2014 from the
Medical Science Training Program (MSTP) at University of Texas Southwestern
Medical Center. Dr. Quiat then completed both his residency and fellowship at
Boston Children’s Hospital, where he is board certified in pediatrics and
pediatric cardiology with specialties in pediatric cardiomyopathies and
congenital heart defects. In addition to his clinical responsibilities, Dr.
Quiat pursues biomedical research in cardiovascular development and genetics in
collaboration with the Seidman Lab at Harvard Medical School
Department of Genetics, with a goal of identifying genetic causes of single
ventricle heart disease and illuminating the role of those genetic factors in
the development of heart failure and other clinical outcomes.
Journal article
CONCLUSIONS: In a targeted analysis of de novo and transmitted TR element variants in a large cohort of CHD probands, each individual had ~ 1 de novo TR element variant near a CHD gene, and participants with CHD demonstrate clustering of variants within TR element regions. Long-read sequencing confirmed the majority of TR element variants identified using the gangSTR pipeline. De novo variants in known CHD genes were enriched in participants with CHD, with specific enrichment in TR elements near...
Journal article
Facioscapulohumeral dystrophy type 1 (FSHD1) is a progressive, debilitating skeletal myopathy that requires a multimodal approach for complete molecular characterization of pathogenic genotypes. Here, we report genomic analyses of a family with suspected FSHD1. We first performed short-read genome sequencing, followed by parametric linkage analysis using rare variants to map the disease locus to a single 1.7 Mb interval on chromosome 4q35.2 with a logarithm of the odds score of 3.2. We then used...