Elizabeth Goldmuntz
Children's Hospital of Philadelphia
227 Papers
748 Citations
Elizabeth Goldmuntz is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Medicine & Tetralogy of Fallot. The author has an hindex of 56, co-authored 197 publications. Previous affiliations of Elizabeth Goldmuntz include Boston Children's Hospital & Hospital of the University of Pennsylvania.
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Papers
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.
Genetic Basis for Congenital Heart Defects: Current Knowledge A Scientific Statement From the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
Mary Ella M Pierpont,Craig T. Basson,D. Woodrow Benson,Bruce D. Gelb,Therese M. Giglia,Elizabeth Goldmuntz,Glenn McGee,Craig Sable,Deepak Srivastava,Catherine L. Webb +9 more
TL;DR: It is anticipated that this summary will update a wide range of medical personnel about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenitals heart disease.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Sheng Chih Jin,Jason Homsy,Samir Zaidi,Qiongshi Lu,Sarah U. Morton,Steven R. DePalma,Xue Zeng,Hongjian Qi,Weni Chang,Michael C. Sierant,Wei Chien Hung,Shozeb Haider,Junhui Zhang,James R. Knight,Robert D. Bjornson,Christopher Castaldi,Irina R. Tikhonoa,Kaya Bilguvar,Shrikant Mane,Stephen Sanders,Seema Mital,Mark W. Russell,J. William Gaynor,John E. Deanfield,Alessandro Giardini,George A. Porter,Deepak Srivastava,Cecelia W. Lo,Yufeng Shen,W. Scott Watkins,Mark Yandell,H. Joseph Yost,Martin Tristani-Firouzi,Jane W. Newburger,Amy E. Roberts,Richard B. Kim,Hongyu Zhao,Jonathan R. Kaltman,Elizabeth Goldmuntz,Wendy K. Chung,Jonathan G. Seidman,Bruce D. Gelb,Christine E. Seidman,Richard P. Lifton,Richard P. Lifton,Martina Brueckner +45 more
TL;DR: Exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, and DNMs in ∼440 genes were inferred to contribute to CHD.
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.
Features of alagille syndrome in 92 patients: Frequency and relation to prognosis
Karan M. Emerick,Elizabeth B. Rand,Elizabeth Goldmuntz,Ian D. Krantz,Nancy B. Spinner,David A. Piccoli +5 more
TL;DR: The hepatic histology of these AGS patients showed a significant increase in the prevalence of bile duct paucity and fibrosis with increasing age, and initial measures of hepatic function in infancy including absence of scintiscan excretion were not predictive of risk for transplantation or increased mortality.
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