M
Mark W. Russell
Researcher at University of Michigan
Publications - 130
Citations - 5870
Mark W. Russell is an academic researcher from University of Michigan. The author has contributed to research in topics: Hypertrophic cardiomyopathy & Obscurin. The author has an hindex of 37, co-authored 118 publications receiving 4585 citations. Previous affiliations of Mark W. Russell include Boston Children's Hospital & Case Western Reserve University.
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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.
Journal ArticleDOI
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.
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Mary Ella M Pierpont,Martina Brueckner,Wendy K. Chung,Vidu Garg,Ronald V. Lacro,Amy L. McGuire,Seema Mital,James R. Priest,William T. Pu,Amy E. Roberts,Stephanie M. Ware,Bruce D. Gelb,Mark W. Russell +12 more
TL;DR: This review provides an updated summary of the state of the authors' knowledge of the genetic contributions to the pathogenesis of congenital heart disease and recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies.
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Cardiomyocyte-Specific Knockout and Agonist of Peroxisome Proliferator–Activated Receptor-γ Both Induce Cardiac Hypertrophy in Mice
Sheng-Zhong Duan,Christine Y. Ivashchenko,Mark W. Russell,David S. Milstone,David S. Milstone,Richard M. Mortensen +5 more
TL;DR: It is shown that cardiomyocyte PPAR-γ suppresses cardiac growth and embryonic gene expression and inhibits nuclear factor &kgr;B activity in vivo and rosiglitazone causes cardiac hypertrophy at least partially independent of PPar-γ inCardiomyocytes and through different mechanisms from CM-PGKO.
Journal ArticleDOI
Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy
Barry J. Maron,Paolo Spirito,Michael J. Ackerman,Susan A. Casey,Christopher Semsarian,N.A. Mark Estes,Kevin Shannon,Euan A. Ashley,Sharlene M. Day,Giuseppe Pacileo,Francesco Formisano,Emmanuela Devoto,A. Anastasakis,J. Martijn Bos,Anna Woo,Camillo Autore,Robert H. Pass,Giuseppe Boriani,Ross Garberich,Adrian K. Almquist,Mark W. Russell,Luca Boni,Stuart Berger,Martin S. Maron,Mark S. Link +24 more
TL;DR: In a high-risk pediatric HCM cohort, ICD interventions terminating life-threatening ventricular tachyarrhythmias were frequent and extreme left ventricular hypertrophy was the most common risk factor present in patients experiencing primary prevention interventions.