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Amy E. Roberts
Researcher at Boston Children's Hospital
Publications - 107
Citations - 10552
Amy E. Roberts is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Noonan syndrome & Heart disease. The author has an hindex of 41, co-authored 96 publications receiving 8632 citations. Previous affiliations of Amy E. Roberts include Partners HealthCare & Purdue University.
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Journal ArticleDOI
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Bart Loeys,Bart Loeys,Ulrike Schwarze,Tammy M. Holm,Bert Callewaert,George H. Thomas,George H. Thomas,Hariyadarshi Pannu,Julie De Backer,Gretchen L. Oswald,Sofie Symoens,Sylvie Manouvrier,Amy E. Roberts,Francesca Faravelli,M. Alba Greco,Reed E. Pyeritz,Dianna M. Milewicz,Paul Coucke,Duke E. Cameron,Alan C. Braverman,Peter H. Byers,Anne De Paepe,Harry C. Dietz,Harry C. Dietz +23 more
TL;DR: An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.
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De novo mutations in histone-modifying genes in congenital heart disease
Samir Zaidi,Murim Choi,Hiroko Wakimoto,Lijiang Ma,Jianming Jiang,John D. Overton,Angela Romano-Adesman,Robert D. Bjornson,Roger E. Breitbart,Kerry K. Brown,Nicholas Carriero,Yee Him Cheung,John E. Deanfield,Steve Depalma,Khalid Adnan Mohamed A. Fakhro,Joseph T. Glessner,Hakon Hakonarson,Michael J. Italia,Jonathan R. Kaltman,Juan Pablo Kaski,Richard B. Kim,Jennie Kline,Teresa Lee,Jeremy Leipzig,Alexander Lopez,Shrikant Mane,Laura E. Mitchell,Jane W. Newburger,Michael Parfenov,Itsik Pe'er,George A. Porter,Amy E. Roberts,Ravi Sachidanandam,Stephen Sanders,Howard S. Seiden,Mathew W. State,Sai Lakshmi Subramanian,Irina Tikhonova,Wei Wang,Wei Wang,Dorothy Warburton,Peter White,Ismee A. Williams,Hongyu Zhao,Jonathan G. Seidman,Martina Brueckner,Wendy K. Chung,Bruce D. Gelb,Elizabeth Goldmuntz,Christine E. Seidman,Richard P. Lifton +50 more
TL;DR: Comparing the incidence of de novo mutations in severe CHD cases and controls by analysing exome sequencing of parent–offspring trios suggests that several hundreds of genes collectively contribute to approximately 10% of severeCHD.
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Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
Gang Wang,Megan L. McCain,Luhan Yang,Aibin He,Francesco S. Pasqualini,Ashutosh Agarwal,Hongyan Yuan,Dawei Jiang,Donghui Zhang,Lior Zangi,Judith Geva,Amy E. Roberts,Qing Ma,Jian-Ping Ding,Jinghai Chen,Da-Zhi Wang,Kai Li,Jiwu Wang,Ronald J.A. Wanders,Wim Kulik,Frédéric M. Vaz,Michael A. Laflamme,Charles E. Murry,Kenneth R. Chien,Richard I. Kelley,George M. Church,Kevin Kit Parker,William T. Pu +27 more
TL;DR: This study combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology underlying the cardiomyopathy of Barth syndrome, a mitochondrial disorder caused by mutation of the gene encoding tafazzin (TAZ).
Journal ArticleDOI
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Amy E. Roberts,Toshiyuki Araki,Kenneth D. Swanson,Kate Montgomery,Taryn A. Schiripo,Victoria A. Joshi,Li Li,Yosuf Yassin,Alex M. Tamburino,Benjamin G. Neel,Raju Kucherlapati +10 more
TL;DR: SOS1 mutants are identified 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.
Journal ArticleDOI
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Jason Homsy,Samir Zaidi,Yufeng Shen,James S. Ware,James S. Ware,James S. Ware,Kaitlin E. Samocha,Konrad J. Karczewski,Steven R. DePalma,Steven R. DePalma,David M. McKean,Hiroko Wakimoto,Josh Gorham,Sheng Chih Jin,John E. Deanfield,Alessandro Giardini,George A. Porter,Richard B. Kim,Kaya Bilguvar,Francesc López-Giráldez,Irina Tikhonova,Shrikant Mane,Angela Romano-Adesman,Hongjian Qi,Hongjian Qi,Badri N. Vardarajan,Lijiang Ma,Mark J. Daly,Amy E. Roberts,Mark W. Russell,Seema Mital,Jane W. Newburger,J. William Gaynor,Roger E. Breitbart,Ivan Iossifov,Michael Ronemus,Stephen Sanders,Jonathan R. Kaltman,Jonathan G. Seidman,Martina Brueckner,Bruce D. Gelb,Elizabeth Goldmuntz,Elizabeth Goldmuntz,Richard P. Lifton,Richard P. Lifton,Christine E. Seidman,Christine E. Seidman,Christine E. Seidman,Wendy K. Chung +48 more
TL;DR: Clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.