Professor of Medicine, Harvard Medical School
Division of Genetics, Brigham and Women’s Hospital
Dr. Maas was 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 held
for over 20 years. His credentials
included 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 other accomplishments. 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 was also
a 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 was also involved in and a prior PI
of 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 focused 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 was 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 held
for over 20 years. His credentials
included 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 other accomplishments. 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 was also
a 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 was also involved in and a prior PI
of 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 focused 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
CONCLUSIONS: Specific variants in the tankyrase-binding domain of AXIN2 are pathogenic, leading to phenotypic expansion with potential context-dependent effects on AXIN2 function and Wnt signaling. The N1 modeling strategy used to demonstrate variant pathogenicity may be beneficial for resolving other heterozygous variants associated with congenital anomalies.
Journal article
CONCLUSIONS: Ensilication enables diagnostic-quality native long-read sequencing without cold-chain infrastructure, supporting ambient storage and transport while preserving both sequence and methylation information.