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Eun-Kyung Suk

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Articles 9
Citations 404
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Recent Articles
1.
Rahimi M, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, et al.
Am J Hum Genet . 2022 Mar; 109(5):944-952. PMID: 35358416
Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the...
2.
Hsieh T, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, et al.
Genet Med . 2019 Jun; 21(12):2807-2814. PMID: 31164752
Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods:...
3.
Suk E, Schulz S, Mentrup B, Huebsch T, Duitama J, Hoehe M
Methods Mol Biol . 2017 Feb; 1551:223-269. PMID: 28138850
Haplotype resolution of human genomes is essential to describe and interpret genetic variation and its impact on biology and disease. Our approach to haplotyping relies on converting genomic DNA into...
4.
Hoehe M, Church G, Lehrach H, Kroslak T, Palczewski S, Nowick K, et al.
Nat Commun . 2014 Nov; 5:5569. PMID: 25424553
To fully understand human biology and link genotype to phenotype, the phase of DNA variants must be known. Here we present a comprehensive analysis of haplotype-resolved genomes to assess the...
5.
Duitama J, McEwen G, Huebsch T, Palczewski S, Schulz S, Verstrepen K, et al.
Nucleic Acids Res . 2011 Nov; 40(5):2041-53. PMID: 22102577
Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome function. Fosmid pool-based next-generation sequencing allows genome-wide generation of...
6.
Suk E, McEwen G, Duitama J, Nowick K, Schulz S, Palczewski S, et al.
Genome Res . 2011 Aug; 21(10):1672-85. PMID: 21813624
Independent determination of both haplotype sequences of an individual genome is essential to relate genetic variation to genome function, phenotype, and disease. To address the importance of phase, we have...
7.
Steffens M, Lamina C, Illig T, Bettecken T, Vogler R, Entz P, et al.
Hum Hered . 2006 Sep; 62(1):20-9. PMID: 17003564
Objective: To evaluate the relevance and necessity to account for the effects of population substructure on association studies under a case-control design in central Europe, we analysed three samples drawn...
8.
Wojnowski L, Kulle B, Schirmer M, Schluter G, Schmidt A, Rosenberger A, et al.
Circulation . 2005 Dec; 112(24):3754-62. PMID: 16330681
Background: A significant number of patients treated with anthracyclines develop cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as arrhythmias (acute ACT) or congestive heart failure (chronic ACT). There are no data...
9.
Suk E, Malkin I, Dahm S, Kalichman L, Ruf N, Kobyliansky E, et al.
Arthritis Res Ther . 2005 Oct; 7(5):R1082-90. PMID: 16207325
Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This...