Search Results - "Suk, Kyung Eun"

Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques by Duitama, Jorge, McEwen, Gayle K., Huebsch, Thomas, Palczewski, Stefanie, Schulz, Sabrina, Verstrepen, Kevin, Suk, Eun-Kyung, Hoehe, Margret R.

“…Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome…”
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A comprehensively molecular haplotype-resolved genome of a European individual by Suk, Eun-Kyung, McEwen, Gayle K, Duitama, Jorge, Nowick, Katja, Schulz, Sabrina, Palczewski, Stefanie, Schreiber, Stefan, Holloway, Dustin T, McLaughlin, Stephen, Peckham, Heather, Lee, Clarence, Huebsch, Thomas, Hoehe, Margret R

“…Independent determination of both haplotype sequences of an individual genome is essential to relate genetic variation to genome function, phenotype, and…”
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SNP-based analysis of genetic substructure in the German population by Steffens, Michael, Lamina, Claudia, Illig, Thomas, Bettecken, Thomas, Vogler, Rainer, Entz, Patricia, Suk, Eun-Kyung, Toliat, Mohammad Reza, Klopp, Norman, Caliebe, Amke, König, Inke R, Köhler, Karola, Ludemann, Jan, Diaz Lacava, Amalia, Fimmers, Rolf, Lichtner, Peter, Ziegler, Andreas, Wolf, Andreas, Krawczak, Michael, Nūrnberg, Peter, Hampe, Jochen, Schreiber, Stefan, Meitinger, Thomas, Wichmann, H-Erich, Roeder, Kathryn, Wienker, Thomas F, Baur, Max P

“…To evaluate the relevance and necessity to account for the effects of population substructure on association studies under a case-control design in central…”
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PEDIA: prioritization of exome data by image analysis by Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

“…Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after…”
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De novo variants in ATP2B1 lead to neurodevelopmental delay by Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry

“…Calcium (Ca ) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase…”
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Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes by Hoehe, Margret R., Church, George M., Lehrach, Hans, Kroslak, Thomas, Palczewski, Stefanie, Nowick, Katja, Schulz, Sabrina, Suk, Eun-Kyung, Huebsch, Thomas

“…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…”
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NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity by WOJNOWSKI, Leszek, KULLE, Bettina, TZVETKOV, Mladen, KRUGER, Anke, SEIFERT, Silvia, KLOESS, Marita, HAHN, Heidi, LOEFFLER, Markus, NÜRNBERG, Peter, PFREUNDSCHUH, Michael, TRÜMPER, Lorenz, BROCKMÖLLER, Jürgen, SCHIRMER, Markus, HASENFUSS, Gerd, SCHLÜTER, Gregor, SCHMIDT, Albrecht, ROSENBERGER, Albert, VONHOF, Stefan, BICKEBÖLLER, Heike, TOLIAT, Mohammad Reza, SUK, Eun-Kyung

“…A significant number of patients treated with anthracyclines develop cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as…”
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A Fosmid Pool-Based Next Generation Sequencing Approach to Haplotype-Resolve Whole Genomes by Suk, Eun-Kyung, Schulz, Sabrina, Mentrup, Birgit, Huebsch, Thomas, Duitama, Jorge, Hoehe, Margret R

“…Haplotype resolution of human genomes is essential to describe and interpret genetic variation and its impact on biology and disease. Our approach to…”
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Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report by Danyel, Magdalena, Suk, Eun Kyung, Raile, Vera, Gellermann, Jutta, Knaus, Alexej, Horn, Denise

“…Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short…”
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Genetische Diagnostik unter Einbeziehung digitaler Systeme am Beispiel einer komplexen neuropädiatrischen Erkrankung by von Au, Katja, Suk, Eun-Kyung

“…Zusammenfassung Während bis vor wenigen Jahren nur eine begrenzte Auswahl an digitalen Möglichkeiten zur genetischen Diagnostik zur Verfügung stand, kann heute…”
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Comparison between dental and basal arch forms in normal occlusion and Class III malocclusions utilizing cone-beam computed tomography by Suk, Kyung Eun, Park, Jae Hyun, Bayome, Mohamed, Nam, Young-Ok, Sameshima, Glenn T, Kook, Yoon-Ah

“…Objective: The purpose of this study was to investigate the relationship between the mandibular dental and basal arch forms in subjects with normal occlusion…”
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Cone-beam computed tomography evaluation of orthodontic miniplate anchoring screws in the posterior maxilla by Kim, Gyu-Tae, Kim, Seong-Hun, Choi, Yong-Suk, Park, Young-Joon, Chung, Kyu-Rhim, Suk, Kyung-Eun, Choo, HyeRan, Huang, John C

“…Introduction The purposes of this study were to evaluate the actual postplacement positions of orthodontic miniplate anchoring screws (MPAS) and to determine…”
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Comparison between dental and basal arch forms in normal occlusion and Class III malocclusions utilizing cone-beam computed tomography by Suk, Kyung Eun, Park, Jae Hyun, Bayome, Mohamed, Nam, Young-Ok, Sameshima, Glenn T, Kook, Yoon-Ah

“…The purpose of this study was to investigate the relationship between the mandibular dental and basal arch forms in subjects with normal occlusion and compare…”
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Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population by Suk, Eun-Kyung, Malkin, Ida, Dahm, Stefan, Kalichman, Leonid, Ruf, Nico, Kobyliansky, Eugene, Toliat, Mohammad, Rutsch, Frank, Nürnberg, Peter, Livshits, Gregory

“…Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of…”
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한국인과 이집트인의 치열궁 형태 비교 by 장갑수, 석경은, 김윤지, 김성훈, 국윤아, Jang, Kab-Soo, Suk, Kyung-Eun, Bayome, Mohamed, Kim, Yoon-Ji, Kim, Seong-Hun, Kook, Yoon-Ah

“…Objective: The purpose of this study was to evaluate morphologic differences in the mandibular arch between Egyptian and Korean subjects. Methods: The Egyptian…”
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A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation by Rocha, Maria L., Dittmayer, Carsten, Uruha, Akinori, Korinth, Dirk, Chaoui, Rabih, Schlembach, Dietmar, Rossi, Rainer, Pelin, Katarina, Suk, Eun Kyung, Schmid, Simone, Goebel, Hans H., Schuelke, Markus, Stenzel, Werner, Englert, Benjamin

“…•We report a novel splice site mutation in NEB, leading to a severe form of foetal nemaline myopathy with antenatal/foetal developmental disorder and resulting…”
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Haplotypsequenzierung menschlicher Genome: Personalisierte Genomik by Hoehe, Margret R., Suk, Eun-Kyung, Huebsch, Thomas

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Haplotypsequenzierung menschlicher Genome by Hoehe, Margret R, Eun-Kyung, Suk, Huebsch, Thomas

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Reader’s forum by Kabsoo Jang, Kyung Eun Suk, Mohamed Bayome, Yoonji Kim, Seong-Hun Kim, Yoon-Ah Kook

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Editor's Summary and Q&A by Kim, Gyu-Tae, Kim, Seong-Hun, Choi, Yong-Suk, Park, Young-Joon, Chung, Kyu-Rhim, Suk, Kyung-Eun, Choo, HyeRan, Huang, John C

“…Introduction The purposes of this study were to evaluate the actual postplacement positions of orthodontic miniplate anchoring screws (MPAS) and to determine…”
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