Amy E Roberts
Affiliation: Harvard University
- Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literatureAmy E Roberts
Department of Medicine, Division of Genetics, Children s Hospital, Boston, Massachusetts 02115, USA
Am J Med Genet A 128:352-63. 2004..Potential benefits of subtelomeric FISH testing include faster time to diagnosis, better informed patient prognosis, and more accurate genetic counseling...
- Dissecting spatio-temporal protein networks driving human heart development and related disordersKasper Lage
Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Syst Biol 6:381. 2010....
- Heart failure in congenital heart disease: a confluence of acquired and congenitalAkl C Fahed
Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
Heart Fail Clin 10:219-27. 2014....
- Chromosomal microarray testing influences medical managementMichael E Coulter
Division of Genetics, Children s Hospital Boston, Massachusetts 02115, USA
Genet Med 13:770-6. 2011..Despite improved diagnostic yield and studies to support cost-effectiveness, concerns regarding the cost and reimbursement for CMA have been raised because it is perceived that CMA results do not influence medical management...
- Germline gain-of-function mutations in SOS1 cause Noonan syndromeAmy E Roberts
Harvard Partners Center for Genetics and Genomics and Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 39:70-4. 2007..Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation...
- Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
N Engl J Med 358:1899-908. 2008..Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown...
- TFAP2A mutations result in branchio-oculo-facial syndromeJeff M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
Am J Hum Genet 82:1171-7. 2008..We conclude BOFS is caused by mutations involving TFAP2A. More patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations...
- Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assayAmy E Roberts
Am J Med Genet A 130:204-7. 2004
- Aneurysm syndromes caused by mutations in the TGF-beta receptorBart L Loeys
McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
N Engl J Med 355:788-98. 2006....