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M. Vatta · SciRah

Researcher profile · Semantic Scholar

M. Vatta

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M. Vatta — researcher profile on SciRah

h-index: 41
Works: 198
Citations: 9,291

Most-cited papers

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
R. Hershberger, M. Givertz, C. Ho, D. Judge +6 more
2018Journal of Cardiac Failure526 citations Open access
Semantic Scholar
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
R. Hershberger, M. Givertz, C. Ho, D. Judge +7 more
2018Genetics in Medicine243 citations Open access
Semantic Scholar
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
L. Crotti, C. Spazzolini, D. Tester, A. Ghidoni +37 more
2019European Heart Journal154 citations Open access
Semantic Scholar
Genome-wide association studies for taxane-induced peripheral neuropathy (TIPN) in ECOG-5103 and ECOG-1199
B. Schneider, Lang Li, M. Radovich, F. Shen +19 more
2015Clinical Cancer Research123 citations Open access
Semantic Scholar
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
L. Dellefave-Castillo, Allison L. Cirino, T. Callis, E. Esplin +9 more
2022JAMA cardiology82 citations Open access
Semantic Scholar
Dysfunction in the βII Spectrin-Dependent Cytoskeleton Underlies Human Arrhythmia
Sakima A. Smith, A. Sturm, J. Curran, Crystal F. Kline +27 more
2015Circulation68 citations Open access
Semantic Scholar
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
Rie Murayama, Mariko Kimura-Asami, Marina Togo-Ohno, Yumiko Yamasaki-Kato +13 more
2018Scientific Reports62 citations Open access
Semantic Scholar
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Dena R Matalon, Cinthya J. Zepeda-Mendoza, M. Aarabi, Kaitlyn Brown +4 more
2023Genetics in Medicine54 citations Open access
Semantic Scholar
Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study
A. Morales, D. Kinnamon, E. Jordan, Julia Platt +65 more
2020Circulation Genomic and Precision Medicine54 citations Open access
Semantic Scholar
14-3-3ε Plays a Role in Cardiac Ventricular Compaction by Regulating the Cardiomyocyte Cell Cycle
Yasuhiro Kosaka, K. Cieslik, Ling Li, G. Lezin +9 more
2012Molecular and Cellular Biology50 citations Open access
Semantic Scholar
Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.
E. Jordan, D. Kinnamon, G. Haas, M. Hofmeyer +34 more
2023Journal of the American Medical Association (JAMA)44 citations Open access
Semantic Scholar
Loss-of-Function of hNav1.5 by ZASP1-D117N Associated with Intraventricular Conduction Disturbances in Left Ventricular Noncompaction
Yu-Tao Xi, Tomohiko Ai, E. D. De Lange, Zhaohui Li +12 more
2012Circulation: Arrhythmia and Electrophysiology41 citations Open access
Semantic Scholar
A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset
M. Vatta, M. Tennison, A. Aylsworth, Christie M. Turcott +3 more
2012Journal of Child Neurology39 citations
Semantic Scholar
Differential changes in TGF-β/BMP signaling pathway in the right ventricular myocardium of newborns with hypoplastic left heart syndrome.
M. Ricci, Bhagyalaxmi Mohapatra, A. Urbiztondo, R. Birusingh +4 more
2010Journal of Cardiac Failure38 citations
Semantic Scholar
ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle
V. Martinelli, W. Kyle, S. Kojic, N. Vitulo +7 more
2014PLoS ONE35 citations Open access
Semantic Scholar
Coffin–Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern
Hugo R. Martinez, Mary C. Niu, V. Sutton, R. Pignatelli +2 more
2011American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Myocardial Alternative RNA Splicing and Gene Expression Profiling in Early Stage Hypoplastic Left Heart Syndrome
M. Ricci, Yanji Xu, Harriet L. Hammond, D. Willoughby +5 more
2012PLoS ONE31 citations Open access
Semantic Scholar
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis
A. Sturm, R. Truty, T. Callis, Sienna J. Aguilar +8 more
2021JAMA cardiology28 citations Open access
Semantic Scholar
Arrhythmogenic Calmodulin Mutations Impede Activation of Small-conductance Calcium-Activated Potassium Current
Chih-Chieh Yu, J. Ko, Tomohiko Ai, Wen-Chin Tsai +6 more
2016Heart Rhythm28 citations Open access
Semantic Scholar
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
L. Seaver, G. Khushf, Nancy King, Dena R Matalon +3 more
2021Genetics in Medicine26 citations Open access
Semantic Scholar
Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing Hemodialysis.
S. Moe, L. Wetherill, B. Decker, Dong-Bing Lai +5 more
2017American Society of Nephrology. Clinical Journal26 citations Open access
Semantic Scholar
Clinical characteristics and 12-month outcomes of patients with valvular and non-valvular atrial fibrillation in Kenya
T. Temu, K. Lane, Chang-Yu Shen, L. Ng’ang’a +12 more
2017PLoS ONE22 citations Open access
Semantic Scholar
Ondansetron blocks wild-type and p.F503L variant small-conductance Ca2+-activated K+ channels.
J. Ko, Shuai Guo, Jonathan L. Hassel, Patrícia B. S. Celestino-Soper +13 more
2018American Journal of Physiology. Heart and Circulatory Physiology19 citations Open access
Semantic Scholar
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.
W. Liew, T. Ben-Omran, B. Darras, S. Prabhu +5 more
2013JAMA Neurology18 citations
Semantic Scholar
Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy
Kelly A. Rich, T. Moscarello, C. Siskind, G. Brock +11 more
2020Molecular Genetics & Genomic Medicine17 citations Open access
Semantic Scholar
Factor XIII Val34Leu polymorphism and recurrent myocardial infarction in patients with coronary artery disease
R. Kreutz, Abbas Bitar, Janelle Owens, Z. Desta +7 more
2014Journal of Thrombosis and Thrombolysis16 citations Open access
Semantic Scholar
Use of genetic testing to identify sudden cardiac death syndromes.
M. Vatta, Katherine G. Spoonamore
2015Trends in cardiovascular medicine14 citations
Semantic Scholar
An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy
Megan H. Hawley, N. Almontashiri, L. Biesecker, Natalie Berger +18 more
2020Human Mutation13 citations Open access
Semantic Scholar
Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
R. Hershberger, M. Givertz, C. Ho, D. Judge +7 more
2019Genetics in Medicine13 citations Open access
Semantic Scholar
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
Pasquale Piccolo, S. Attanasio, I. Secco, Riccardo Sangermano +20 more
2016Human Molecular Genetics13 citations Open access
Semantic Scholar
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Patrícia B. S. Celestino-Soper, Anisiia Doytchinova, H. Steiner, Andrea Uradu +9 more
2015PLoS ONE12 citations Open access
Semantic Scholar
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions
Dana B. Gal, A. Morales, S. Rojahn, T. Callis +7 more
2021Pediatric Cardiology11 citations Open access
Semantic Scholar
Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells
Isik Turker, T. Makiyama, T. Ueyama, A. Shimizu +5 more
2020Pacing and clinical electrophysiology : PACE10 citations
Semantic Scholar
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy
A. Kean, B. Helm, M. Vatta, M. Ayers +2 more
2019Cardiology in the Young10 citations
Semantic Scholar
FGF23 Genotype and Cardiovascular Disease in Patients Undergoing Hemodialysis
Tae-Hwi Schwantes-An, Sai Liu, M. Stedman, B. Decker +6 more
2019American Journal of Nephrology10 citations Open access
Semantic Scholar
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program.
B. Trachtenberg, Sachin Shah, R. Nussbaum, S. Bristow +2 more
2021Circulation Genomic and Precision Medicine9 citations
Semantic Scholar
Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis.
S. Moe, Jin Long, Tae-Hwi Schwantes-An, B. Decker +6 more
2018Nephrology, Dialysis and Transplantation9 citations Open access
Semantic Scholar
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders
Patrícia B. S. Celestino-Soper, Hong-Yu Gao, T. Lynnes, Hai Lin +4 more
2017Frontiers in Cardiovascular Medicine9 citations Open access
Semantic Scholar
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG
Isik Turker, T. Makiyama, M. Vatta, H. Itoh +4 more
2016PLoS ONE9 citations Open access
Semantic Scholar
LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype
Jian-Ding Cheng, David W. Van Norstrand, A. Medeiros-Domingo, D. Tester +5 more
2011Cardiogenetics9 citations Open access
Semantic Scholar
Phosphorylation of Lamin A/C at serine 22 modulates Nav1.5 function
Michael A. Olaopa, Tomohiko Ai, Bo Chao, Xiang-Shu Xiao +2 more
2021Physiological Reports7 citations Open access
Semantic Scholar
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
J. Roggenbuck, Kelly A. Rich, A. Morales, Christopher A. Tan +7 more
2019Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
Genetic Mutations in African Patients with Atrial Fibrillation: Rationale and Design of the Study of Genetics of Atrial Fibrillation in an African Population (SIGNAL)
G. Bloomfield, T. Temu, C. Akwanalo, Peng-Sheng Chen +10 more
2015American Heart Journal7 citations Open access
Semantic Scholar
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome
M. Vatta, Z. Niu, J. Lupski, P. Putnam +4 more
2013American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
A. Morales, Alexander Y. Ing, C. Antolik, C. Austin-Tse +26 more
2021Journal of Molecular Diagnostics6 citations Open access
Semantic Scholar
Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers
D. Primorac, Ljubica Odak, Vitorio Perić, J. Ćatić +12 more
2021Frontiers in Medicine5 citations Open access
Semantic Scholar
Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child
E. Sommariva, M. Vatta, Yu-Tao Xi, S. Sala +5 more
20125 citations Open access
Semantic Scholar
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
M. Vatta, R. Truty, John Garcia, T. Callis +5 more
2021Circulation Genomic and Precision Medicine4 citations
Semantic Scholar
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy
Patrícia B. S. Celestino-Soper, T. Lynnes, Li-Li Zhang, Karen Ouyang +3 more
2018Scientific Reports4 citations Open access
Semantic Scholar
Lamin-A/C variants found in patients with cardiac conduction disease reduce sodium currents
Michael A. Olaopa, Katherine G. Spoonamore, Deepak Bhakta, Zhenhui Chen +4 more
20184 citations Open access
Semantic Scholar

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