Amber Ummels

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Publications

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Active since

2012

Affiliations

University Medical Center Utrecht(Current)

Netherlands Heart Institute

University Medical Center Groningen

University of Groningen

Utrecht University

Amber Ummels is an author at University Medical Center Utrecht specializing in genetics, inherited cardiomyopathies, and cardiomyopathy genotype-phenotype correlation.

Publications per year

2012–2019

Publications

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Judith A. Groeneweg, Amber Ummels, Marcel Mulder et al. · Heart Rhythm · 2014 · 17 citations

Medicine, Cardiology, Genetics +15

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

Jasper J. van der Smagt, Paul A. van der Zwaag, J. Peter van Tintelen et al. · Cardiology · 2012 · 14 citations · Full text

Medicine, Cardiology, Genetics +16

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Ron Hochstenbach, Beata Nowakowska, Marianne Volleth et al. · Molecular Syndromology · 2015 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mortality Risk Associated With Truncating Founder Mutations in Titin

M. Jansen, Annette F. Baas, Karin Y. van Spaendonck‐Zwarts et al. · Circulation Genomic and Precision Medicine · 2019 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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