Professor of Medicine, Harvard Medical School
Division of Genetics, Brigham and Women’s Hospital
Dr. Maas is
Professor of Medicine (Genetics) at Harvard Medical School, and former Chief of the
Division of Genetics at Brigham and Women’s Hospital, a position he has held
for over 20 years. His credentials
include 30 years on the HMS faculty as a physician-scientist, tenure as an HHMI
Investigator, election to the ASCI and as a Fellow of the AAAS, an NIH MERIT
Award, and many others. Faculty of the BWH
Division of Genetics include members of HHMI, NAS, and NAM, as well as past
winners of the Gairdner, Lasker, and Breakthrough Prizes. Dr. Maas has also
been PI of the BWH Biomedical Research Institute Director’s Transformative
Award that provides institutional support to Brigham Genomic Medicine
(BGM). BGM is an integrated clinical and
research program that enables BWH faculty from multiple BWH departments and
divisions to diagnose genetic disorders and to discover new monogenic disease
genes via WES/WGS. He is also a prior PI
of and is now on the External Scientific Advisory Group of an NIH U01
Consortium called FaceBase that employs WES/WGS to identify genes that cause
craniofacial birth defects, Director of the Harvard Undiagnosed Disease
Clinical Site (HUDN-CS) Genome Analysis Team.
In addition, he previously directed a large NIH U54 Interdisciplinary
Research Consortium focused on systems biology approaches to organ regeneration. His research focuses on the developmental
genetics of vertebrate organogenesis, on disease gene discovery, and on the
clinical implementation of genomic medicine.
Dr. Maas
earned his undergraduate degree in chemistry from Dartmouth College before matriculating
in the Vanderbilt M.D., Ph.D. program. Dr. Maas then pursued his internship and
residency in Internal Medicine at Brigham and Women’s Hospital and completed
his postdoctoral training with Dr. Philip Leder in the Department of Genetics
at Harvard Medical School. He joined the HMS faculty in the Division of
Genetics at Brigham in 1989.
Professor of Medicine, Harvard Medical School
Division of Genetics, Brigham and Women’s Hospital
Dr. Maas is
Professor of Medicine (Genetics) at Harvard Medical School, and former Chief of the
Division of Genetics at Brigham and Women’s Hospital, a position he has held
for over 20 years. His credentials
include 30 years on the HMS faculty as a physician-scientist, tenure as an HHMI
Investigator, election to the ASCI and as a Fellow of the AAAS, an NIH MERIT
Award, and many others. Faculty of the BWH
Division of Genetics include members of HHMI, NAS, and NAM, as well as past
winners of the Gairdner, Lasker, and Breakthrough Prizes. Dr. Maas has also
been PI of the BWH Biomedical Research Institute Director’s Transformative
Award that provides institutional support to Brigham Genomic Medicine
(BGM). BGM is an integrated clinical and
research program that enables BWH faculty from multiple BWH departments and
divisions to diagnose genetic disorders and to discover new monogenic disease
genes via WES/WGS. He is also a prior PI
of and is now on the External Scientific Advisory Group of an NIH U01
Consortium called FaceBase that employs WES/WGS to identify genes that cause
craniofacial birth defects, Director of the Harvard Undiagnosed Disease
Clinical Site (HUDN-CS) Genome Analysis Team.
In addition, he previously directed a large NIH U54 Interdisciplinary
Research Consortium focused on systems biology approaches to organ regeneration. His research focuses on the developmental
genetics of vertebrate organogenesis, on disease gene discovery, and on the
clinical implementation of genomic medicine.
Dr. Maas
earned his undergraduate degree in chemistry from Dartmouth College before matriculating
in the Vanderbilt M.D., Ph.D. program. Dr. Maas then pursued his internship and
residency in Internal Medicine at Brigham and Women’s Hospital and completed
his postdoctoral training with Dr. Philip Leder in the Department of Genetics
at Harvard Medical School. He joined the HMS faculty in the Division of
Genetics at Brigham in 1989.
Journal article
Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders. Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five of them bear an identical in-frame deletion of nine amino acids...
Journal article
Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as...
