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Author/Creator DePalma, Steven R.

1. Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. (31st August 2021)

Authors:
Patel, Parth N.; Ito, Kaoru; Willcox, Jon A.L.; Haghighi, Alireza; Jang, Min Young; Gorham, Joshua M.; DePalma, Steven R.; Lam, Lien; McDonough, Barbara; Johnson, Renee; Lakdawala, Neal K.; Roberts, Amy; Barton, Paul J.R.; Cook, Stuart A.; Fatkin, Diane; Seidman, Christine E.; Seidman, J.G.
Journal:
Circulation
Issue:
Volume 14:Number 5(2021)
Page Start:
e003389
Record Type:
Journal Article
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2. Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. (October 2021)

Authors:
Patel, Parth N.; Ito, Kaoru; Willcox, Jon A.L.; Haghighi, Alireza; Jang, Min Young; Gorham, Joshua M.; DePalma, Steven R.; Lam, Lien; McDonough, Barbara; Johnson, Renee; Lakdawala, Neal K.; Roberts, Amy; Barton, Paul J.R.; Cook, Stuart A.; Fatkin, Diane; Seidman, Christine E.; Seidman, J.G.
Journal:
Circulation
Issue:
Volume 14:Number 5(2021)
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Record Type:
Journal Article
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3. Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation. Issue 7 (17th September 2021)

Authors:
Agarwal, Radhika; Paulo, Joao A.; Toepfer, Christopher N.; Ewoldt, Jourdan K.; Sundaram, Subramanian; Chopra, Anant; Zhang, Qi; Gorham, Joshua; DePalma, Steven R.; Chen, Christopher S.; Gygi, Steven P.; Seidman, Christine E.; Seidman, J.G.
Journal:
Circulation research
Issue:
Volume 129:Issue 7(2021)
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Record Type:
Journal Article
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4. Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation. Issue 7 (18th August 2021)

Authors:
Agarwal, Radhika; Paulo, Joao A.; Toepfer, Christopher N.; Ewoldt, Jourdan K.; Sundaram, Subramanian; Chopra, Anant; Zhang, Qi; Gorham, Joshua; DePalma, Steven R.; Chen, Christopher S.; Gygi, Steven P.; Seidman, Christine E.; Seidman, J.G.
Journal:
Circulation research
Issue:
Volume 129:Issue 7(2021)
Page Start:
751
Record Type:
Journal Article
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5. Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy. (October 2020)

Authors:
Fahed, Akl C.; Nemer, Georges; Bitar, Fadi F.; Arnaout, Samir; Abchee, Antoine B.; Batrawi, Manal; Khalil, Athar; Abou Hassan, Ossama K.; DePalma, Steven R.; McDonough, Barbara; Arabi, Mariam T.; Ware, James S.; Seidman, Jonathan G.; Seidman, Christine E.
Journal:
Circulation
Issue:
Volume 13:Number 5(2020)
Page Start:
Record Type:
Journal Article
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6. HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss. Issue 10 (11th July 2013)

Authors:
Brown, Kerry K.; Viana, Lucas M.; Helwig, Cecilia C.; Artunduaga, Maria A.; Quintanilla‐Dieck, Lourdes; Jarrin, Patricia; Osorno, Gabriel; McDonough, Barbara; DePalma, Steven R.; Eavey, Roland D.; Seidman, Jonathan G.; Seidman, Christine E.
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1347
Record Type:
Journal Article
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7. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Issue 8 (9th February 2021)

Authors:
Ward, Tarsha; Tai, Warren; Morton, Sarah; Impens, Francis; Van Damme, Petra; Van Haver, Delphi; Timmerman, Evy; Venturini, Gabriela; Zhang, Kehan; Jang, Min Young; Willcox, Jon A.L.; Haghighi, Alireza; Gelb, Bruce D.; Chung, Wendy K.; Goldmuntz, Elizabeth; Porter, George A.; Lifton, Richard P.; B...
Journal:
Circulation research
Issue:
Volume 128:Issue 8(2021)
Page Start:
1156
Record Type:
Journal Article
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8. Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere. Issue 22 (2nd November 2022)

Authors:
Agarwal, Radhika; Wakimoto, Hiroko; Paulo, Joao A.; Zhang, Qi; Reichart, Daniel; Toepfer, Christopher; Sharma, Arun; Tai, Angela C.; Lun, Mingyue; Gorham, Joshua; DePalma, Steven R.; Gygi, Steven P.; Seidman, J.G.; Seidman, Christine E.
Journal:
Circulation
Issue:
Volume 146:Issue 22(2022)
Page Start:
1674
Record Type:
Journal Article
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9. THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Issue 12 (December 2016)

Authors:
Santiago-Sim, Teresa; Fang, Xiaoqian; Hennessy, Morgan L.; Nalbach, Stephen V.; DePalma, Steven R.; Lee, Ming Sum; Greenway, Steven C.; McDonough, Barbara; Hergenroeder, Georgene W.; Patek, Kyla J.; Colosimo, Sarah M.; Qualmann, Krista J.; Hagan, John P.; Milewicz, Dianna M.; MacRae, Calum A.; Dy...
Journal:
Stroke
Issue:
Volume 47:Issue 12(2016)
Page Start:
Record Type:
Journal Article
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10. Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome. (March 2015)

Authors:
Muehlschlegel, Jochen D.; Christodoulou, Danos C.; McKean, David; Gorham, Joshua; Mazaika, Erica; Heydarpour, Mahyar; Lee, Grace; DePalma, Steven R.; Perry, Tjorvi E.; Fox, Amanda A.; Shernan, Stanton K.; Seidman, Christine E.; Aranki, Sary F.; Seidman, Jon G.; Body, Simon C.
Journal:
Anesthesiology
Issue:
Volume 122:Number 3(2015)
Page Start:
Record Type:
Journal Article
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