Amy E Roberts

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
    Amy E Roberts
    Department of Medicine, Division of Genetics, Children s Hospital, Boston, Massachusetts 02115, USA
    Am J Med Genet A 128:352-63. 2004
  2. pmc Dissecting spatio-temporal protein networks driving human heart development and related disorders
    Kasper Lage
    Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Syst Biol 6:381. 2010
  3. pmc Heart failure in congenital heart disease: a confluence of acquired and congenital
    Akl 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
  4. doi request reprint Chromosomal microarray testing influences medical management
    Michael E Coulter
    Division of Genetics, Children s Hospital Boston, Massachusetts 02115, USA
    Genet Med 13:770-6. 2011
  5. ncbi request reprint Germline gain-of-function mutations in SOS1 cause Noonan syndrome
    Amy E Roberts
    Harvard Partners Center for Genetics and Genomics and Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 39:70-4. 2007
  6. pmc Shared genetic causes of cardiac hypertrophy in children and adults
    Hiroyuki Morita
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 358:1899-908. 2008
  7. pmc TFAP2A mutations result in branchio-oculo-facial syndrome
    Jeff M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
    Am J Hum Genet 82:1171-7. 2008
  8. ncbi request reprint 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 assay
    Amy E Roberts
    Am J Med Genet A 130:204-7. 2004
  9. ncbi request reprint Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart 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

Collaborators

  • Mira Irons
  • Toshiyuki Araki
  • WILLIAM TSWENCHING PU
  • J B Mulliken
  • V M Christoffels
  • Angela Lin
  • H J Stalker
  • Charles Lee
  • Akl C Fahed
  • Michael E Coulter
  • Kasper Lage
  • Christine E Seidman
  • Hiroyuki Morita
  • Jeff M Milunsky
  • Bart L Loeys
  • Seema Mital
  • Neal K Lakdawala
  • David T Miller
  • David J Harris
  • Jonathan Picker
  • Pamela Hawley
  • Magdi M Sobeih
  • Eske Bendsen
  • Lars A Larsen
  • Niclas T Hansen
  • Joshua M Gorham
  • Christopher T Workman
  • Olga Rigina
  • Niels Tommerup
  • Søren Brunak
  • Jonathan G Seidman
  • Hiroko Wakimoto
  • Francisco S Roque
  • Steven Greenway
  • Patricia K Donahoe
  • Leslie B Smoot
  • Cornelia Wiese
  • Kjeld Møllgård
  • Rosemarie Smith
  • Heidi L Rehm
  • Barbara McDonough
  • Geping Zhao
  • Roberto T Zori
  • Jeffrey A Towbin
  • Tom A Maher
  • Raju Kucherlapati
  • J G Seidman
  • Andres Menesses
  • Michele Clemens
  • Michelle N Burch
  • Gretchen L Oswald
  • M Alba Greco
  • George H Thomas
  • Bert L Callewaert
  • Tammy Holm
  • Sylvie Manouvrier
  • Dianna M Milewicz
  • Peter H Byers
  • Sofie Symoens
  • Julie F De Backer
  • Reed E Pyeritz
  • Anne M De Paepe
  • Ulrike Schwarze
  • Alan C Braverman
  • Hariyadarshi Pannu
  • Duke E Cameron
  • Francesca Faravelli
  • Paul J Coucke
  • Harry C Dietz

Detail Information

Publications9

  1. ncbi request reprint Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature
    Amy 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...
  2. pmc Dissecting spatio-temporal protein networks driving human heart development and related disorders
    Kasper Lage
    Pediatric Surgical Research Laboratories, MassGeneral Hospital for Children, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Syst Biol 6:381. 2010
    ....
  3. pmc Heart failure in congenital heart disease: a confluence of acquired and congenital
    Akl 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
    ....
  4. doi request reprint Chromosomal microarray testing influences medical management
    Michael 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...
  5. ncbi request reprint Germline gain-of-function mutations in SOS1 cause Noonan syndrome
    Amy 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...
  6. pmc Shared genetic causes of cardiac hypertrophy in children and adults
    Hiroyuki 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...
  7. pmc TFAP2A mutations result in branchio-oculo-facial syndrome
    Jeff 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...
  8. ncbi request reprint 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 assay
    Amy E Roberts
    Am J Med Genet A 130:204-7. 2004
  9. ncbi request reprint Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart 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
    ....