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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Hershberger, Ray E. ; Givertz, Michael M. ; Ho, Carolyn Y ; Judge, Daniel P. ; Kantor, Paul F. ; McBride, Kim L. ; Morales, Ana ; Taylor, Matthew R. G. ; Vatta, Matteo ; Ware, Stephanie M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-09, Vol.20 (9), p.899-909
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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
Author / Creator:Ueda, Kazuo ; Valdivia, Carmen ; Medeiros-Domingo, Argelia ; Tester, David J ; Vatta, Matteo ; Farrugia, Gianrico ; Ackerman, Michael J ; Makielski, Jonathan C
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2008-07, Vol.105 (27), p.9355-9360
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Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells
Author / Creator:Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng‐Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko
Publisher:Hoboken: Wiley Subscription Services, Inc
Journal title:Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846
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A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG
Author / Creator:Turker, Isik ; Makiyama, Takeru ; Vatta, Matteo ; Itoh, Hideki ; Ueyama, Takeshi ; Shimizu, Akihiko ; Ai, Tomohiko ; Horie, Minoru
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-08, Vol.11 (8), p.e0161872-e0161872
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Phosphorylation of Lamin A/C at serine 22 modulates Nav1.5 function
Author / Creator:Olaopa, Michael A. ; Ai, Tomohiko ; Chao, Bo ; Xiao, Xiangshu ; Vatta, Matteo ; Habecker, Beth A.
Publisher:Oxford: John Wiley & Sons, Inc
Journal title:Physiological reports, 2021-11, Vol.9 (22), p.n/a
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Clinical characteristics and 12-month outcomes of patients with valvular and non-valvular atrial fibrillation in Kenya
Author / Creator:Temu, Tecla M. ; Lane, Kathleen A. ; Shen, Changyu ; Ng'ang'a, Loise ; Akwanalo, Constantine O. ; Chen, Peng-Sheng ; Emonyi, Wilfred ; Heckbert, Susan R. ; Koech, Myra M. ; Manji, Imran ; Vatta, Matteo ; Velazquez, Eric J. ; Wessel, Jennifer ; Kimaiyo, Sylvester ; Inui, Thomas S. ; Bloomfield, Gerald S.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-09, Vol.12 (9), p.e0185204-e0185204
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ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle
Author / Creator:Martinelli, Valentina C. ; Kyle, W. Buck ; Kojic, Snezana ; Vitulo, Nicola ; Li, Zhaohui ; Belgrano, Anna ; Maiuri, Paolo ; Banks, Lawrence ; Vatta, Matteo ; Valle, Giorgio ; Faulkner, Georgine
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e92259-e92259
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Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Author / Creator:Celestino-Soper, Patrícia B. S. ; Doytchinova, Anisiia ; Steiner, Hillel A. ; Uradu, Andrea ; Lynnes, Ty C. ; Groh, William J. ; Miller, John M. ; Lin, Hai ; Gao, Hongyu ; Wang, Zhiping ; Liu, Yunlong ; Chen, Peng-Sheng ; Vatta, Matteo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-12, Vol.10 (12), p.e0143588-e0143588
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Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy
Author / Creator:Rich, Kelly A. ; Moscarello, Tia ; Siskind, Carly ; Brock, Guy ; Tan, Christopher A. ; Vatta, Matteo ; Winder, Thomas L. ; Elsheikh, Bakri ; Vicini, Leah ; Tucker, Brianna ; Palettas, Marilly ; Hershberger, Ray E. ; Kissel, John T. ; Morales, Ana ; Roggenbuck, Jennifer
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1460-n/a
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Myocardial Alternative RNA Splicing and Gene Expression Profiling in Early Stage Hypoplastic Left Heart Syndrome
Author / Creator:Ricci, Marco ; Xu, Yanji ; Hammond, Harriet L. ; Willoughby, David A. ; Nathanson, Lubov ; Rodriguez, Maria M. ; Vatta, Matteo ; Lipshultz, Steven E. ; Lincoln, Joy
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e29784-e29784
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A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
Author / Creator:Roggenbuck, Jennifer ; Rich, Kelly ; Morales, Ana ; Tan, Christopher A. ; Eck, Douglas ; King, Wendy ; Vatta, Matteo ; Winder, Thomas ; Elsheikh, Bakri ; Hershberger, Ray E. ; Kissel, John T.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-11, Vol.7 (11), p.e924-n/a
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Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Author / Creator:Celestino-Soper, Patrícia B. S. ; Doytchinova, Anisiia ; Steiner, Hillel A. ; Uradu, Andrea ; Lynnes, Ty C. ; Groh, William J. ; Miller, John M. ; Lin, Hai ; Gao, Hongyu ; Wang, Zhiping ; Liu, Yunlong ; Chen, Peng-Sheng ; Vatta, Matteo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-01, Vol.11 (1), p.e0147455-e0147455
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Genetic mutations in African patients with atrial fibrillation: Rationale and design of the Study of Genetics of Atrial Fibrillation in an African Population (SIGNAL)
Author / Creator:Bloomfield, Gerald S., MD, MPH ; Temu, Tecla M., MD, PhD ; Akwanalo, Constantine O., MBChB, MMed ; Chen, Peng-Sheng, MD ; Emonyi, Wilfred, PhD ; Heckbert, Susan R., MD, PhD ; Koech, Myra M., MBChB, MMed ; Manji, Imran, BPharm ; Shen, Changyu, PhD ; Vatta, Matteo, PhD ; Velazquez, Eric J., MD ; Wessel, Jennifer, PhD, MPH ; Kimaiyo, Sylvester, MBChB, MMed ; Inui, Thomas S., ScM, MD
Publisher:United States: Elsevier Inc
Journal title:The American heart journal, 2015-09, Vol.170 (3), p.455-464.e5
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Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
Author / Creator:Murayama, Rie ; Kimura-Asami, Mariko ; Togo-Ohno, Marina ; Yamasaki-Kato, Yumiko ; Naruse, Taeko K. ; Yamamoto, Takeshi ; Hayashi, Takeharu ; Ai, Tomohiko ; Spoonamore, Katherine G. ; Kovacs, Richard J. ; Vatta, Matteo ; Iizuka, Mai ; Saito, Masumi ; Wani, Shotaro ; Hiraoka, Yuichi ; Kimura, Akinori ; Kuroyanagi, Hidehito
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-06, Vol.8 (1), p.8970-14, Article 8970
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ArticlesPeer ReviewedFull Text
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells
Author / Creator:Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng-Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko
Journal title:Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846
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Correction: Genetic evaluation of cardiomyopathy: a clinicalpractice resource of the American College of Medical Genetics and Genomics(ACMG)
Author / Creator:Hershberger, Ray E ; Givertz Michael M ; Ho, Carolyn Y ; Judge, Daniel P ; Kantor, Paul F ; McBride, Kim L ; Morales, Ana ; Taylor, Matthew R ; Vatta Matteo ; Ware, Stephanie M
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2406-2409
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Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions
Author / Creator:Gal, Dana B. ; Morales, Ana ; Rojahn, Susan ; Callis, Tom ; Garcia, John ; Priest, James R. ; Truty, Rebecca ; Vatta, Matteo ; Nussbaum, Robert L. ; Esplin, Edward D. ; Hollander, Seth A.
Publisher:New York: Springer US
Journal title:Pediatric cardiology, 2022-03, Vol.43 (3), p.616-623
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ArticlesPeer ReviewedFull Text
Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function
Author / Creator:Olaopa, Michael A ; Ai, Tomohiko ; Chao, Bo ; Xiao, Xiangshu ; Vatta, Matteo ; Habecker, Beth A
Journal title:Physiological reports, 2021-11, Vol.9 (22), p.e15121-e15121
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Molecular basis of arrhythmias in patients with genetically-based cardiomyopathies: when the cytoskeleton meets the ion channels
Author / Creator:Vatta, Matteo
Publisher:Italy
Journal title:Giornale italiano di cardiologia (2006), 2010-10, Vol.11 (10), p.746-752
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ArticlesPeer ReviewedFull Text
Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK‐293 cells
Author / Creator:Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng‐Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko
Publisher:United States
Journal title:Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846
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Showing 1 to 20 of 44 results

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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

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Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells

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A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

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Phosphorylation of Lamin A/C at serine 22 modulates Nav1.5 function

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Clinical characteristics and 12-month outcomes of patients with valvular and non-valvular atrial fibrillation in Kenya

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ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle

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Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel

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Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

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Myocardial Alternative RNA Splicing and Gene Expression Profiling in Early Stage Hypoplastic Left Heart Syndrome

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A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

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Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel

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Genetic mutations in African patients with atrial fibrillation: Rationale and design of the Study of Genetics of Atrial Fibrillation in an African Population (SIGNAL)

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Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization

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Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells

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Correction: Genetic evaluation of cardiomyopathy: a clinicalpractice resource of the American College of Medical Genetics and Genomics(ACMG)

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Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

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Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function

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Molecular basis of arrhythmias in patients with genetically-based cardiomyopathies: when the cytoskeleton meets the ion channels

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Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK‐293 cells

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