Young Seok Ju

Young Seok Ju

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Young Seok Ju

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Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.

Authors:
Jeong Seok Lee Yohan An Christopher J Yoon Jeong Yeon Kim Kyung Hwan Kim Alexandra F Freeman Jae-Joon Yim Eui-Cheol Shin Steven M Holland Eun Young Lee Young Seok Ju

J Allergy Clin Immunol 2019 Dec 2. Epub 2019 Dec 2.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.028DOI Listing
December 2019

FIREVAT: finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures.

Authors:
Hyunbin Kim Andy Jinseok Lee Jongkeun Lee Hyonho Chun Young Seok Ju Dongwan Hong

Genome Med 2019 Dec 17;11(1):81. Epub 2019 Dec 17.

Bioinformatics Analysis Team, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-si, Gyeonggi-do, 10408, Republic of Korea.

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http://dx.doi.org/10.1186/s13073-019-0695-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916105PMC
December 2019

PRMT1 is Required for the Maintenance of Mature β Cell Identity.

Authors:
Hyunki Kim Βyoung-Ha Yoon Chang-Myung Oh Joonyub Lee Kanghoon Lee Heein Song Eunha Kim Kijong Yi Mi-Young Kim Hyeongseok Kim Yong Kyung Kim Eun-Hye Seo Haejeong Heo Hee-Jin Kim Junguee Lee Jae Myoung Suh Seung-Hoi Koo Je Kyung Seong Seyun Kim Young Seok Ju Minho Shong Mirang Kim Hail Kim

Diabetes 2019 Dec 17. Epub 2019 Dec 17.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 34141, Republic of Korea

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http://dx.doi.org/10.2337/db19-0685DOI Listing
December 2019

4-1BB Delineates Distinct Activation Status of Exhausted Tumor-Infiltrating CD8 T Cells in Hepatocellular Carcinoma.

Authors:
Hyung-Don Kim Seongyeol Park Seongju Jeong Yong Joon Lee Hoyoung Lee Chang Gon Kim Kyung Hwan Kim Seung-Mo Hong Jung-Yun Lee Sunghoon Kim Hong Kwan Kim Byung Soh Min Jong Hee Chang Young Seok Ju Eui-Cheol Shin Gi-Won Song Shin Hwang Su-Hyung Park

Hepatology 2019 Jul 28. Epub 2019 Jul 28.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea.

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http://dx.doi.org/10.1002/hep.30881DOI Listing
July 2019

Identification of a quadruple mutation that confers tenofovir resistance in chronic hepatitis B patients.

Authors:
Eun-Sook Park Ah Ram Lee Doo Hyun Kim Jeong-Hoon Lee Jeong-Ju Yoo Sung Hyun Ahn Heewoo Sim Soree Park Hong Seok Kang Juhee Won Yea Na Ha Gu-Choul Shin So Young Kwon Yong Kwang Park Byeong-Sun Choi Yun Bin Lee Nakcheol Jeong Yohan An Young Seok Ju Su Jong Yu Hee Bok Chae Kyung-Sang Yu Yoon Jun Kim Jung-Hwan Yoon Fabien Zoulim Kyun-Hwan Kim

J Hepatol 2019 Jun 20;70(6):1093-1102. Epub 2019 Feb 20.

Department of Pharmacology and Center for Cancer Research and Diagnostic Medicine, IBST, School of Medicine, Konkuk University, Seoul, Republic of Korea; KU Open Innovation Center, Konkuk University, Seoul, Republic of Korea; Research Institute of Medical Sciences, Konkuk University, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2019.02.006DOI Listing
June 2019

Tracing Oncogene Rearrangements in the Mutational History of Lung Adenocarcinoma.

Authors:
Jake June-Koo Lee Seongyeol Park Hansol Park Sehui Kim Jongkeun Lee Junehawk Lee Jeonghwan Youk Kijong Yi Yohan An In Kyu Park Chang Hyun Kang Doo Hyun Chung Tae Min Kim Yoon Kyung Jeon Dongwan Hong Peter J Park Young Seok Ju Young Tae Kim

Cell 2019 Jun 30;177(7):1842-1857.e21. Epub 2019 May 30.

Department of Thoracic and Cardiovascular Surgery, Seoul National University Hospital, Seoul 03080, Korea; Seoul National University Cancer Research Institute, Seoul 03080, Korea. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.05.013DOI Listing
June 2019

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Authors:
Mia Petljak Ludmil B Alexandrov Jonathan S Brammeld Stacey Price David C Wedge Sebastian Grossmann Kevin J Dawson Young Seok Ju Francesco Iorio Jose M C Tubio Ching Chiek Koh Ilias Georgakopoulos-Soares Bernardo Rodríguez-Martín Burçak Otlu Sarah O'Meara Adam P Butler Andrew Menzies Shriram G Bhosle Keiran Raine David R Jones Jon W Teague Kathryn Beal Calli Latimer Laura O'Neill Jorge Zamora Elizabeth Anderson Nikita Patel Mark Maddison Bee Ling Ng Jennifer Graham Mathew J Garnett Ultan McDermott Serena Nik-Zainal Peter J Campbell Michael R Stratton

Cell 2019 03;176(6):1282-1294.e20

Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424819PMC
March 2019

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Authors:
Serena Nik-Zainal Helen Davies Johan Staaf Manasa Ramakrishna Dominik Glodzik Xueqing Zou Inigo Martincorena Ludmil B Alexandrov Sancha Martin David C Wedge Peter Van Loo Young Seok Ju Marcel Smid Arie B Brinkman Sandro Morganella Miriam R Aure Ole Christian Lingjærde Anita Langerød Markus Ringnér Sung-Min Ahn Sandrine Boyault Jane E Brock Annegien Broeks Adam Butler Christine Desmedt Luc Dirix Serge Dronov Aquila Fatima John A Foekens Moritz Gerstung Gerrit K J Hooijer Se Jin Jang David R Jones Hyung-Yong Kim Tari A King Savitri Krishnamurthy Hee Jin Lee Jeong-Yeon Lee Yilong Li Stuart McLaren Andrew Menzies Ville Mustonen Sarah O'Meara Iris Pauporté Xavier Pivot Colin A Purdie Keiran Raine Kamna Ramakrishnan F Germán Rodríguez-González Gilles Romieu Anieta M Sieuwerts Peter T Simpson Rebecca Shepherd Lucy Stebbings Olafur A Stefansson Jon Teague Stefania Tommasi Isabelle Treilleux Gert G Van den Eynden Peter Vermeulen Anne Vincent-Salomon Lucy Yates Carlos Caldas Laura Van't Veer Andrew Tutt Stian Knappskog Benita Kiat Tee Tan Jos Jonkers Åke Borg Naoto T Ueno Christos Sotiriou Alain Viari P Andrew Futreal Peter J Campbell Paul N Span Steven Van Laere Sunil R Lakhani Jorunn E Eyfjord Alastair M Thompson Ewan Birney Hendrik G Stunnenberg Marc J van de Vijver John W M Martens Anne-Lise Børresen-Dale Andrea L Richardson Gu Kong Gilles Thomas Michael R Stratton

Nature 2019 02;566(7742):E1

Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.

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http://www.nature.com/articles/s41586-019-0883-2
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http://dx.doi.org/10.1038/s41586-019-0883-2DOI Listing
February 2019

Publisher Correction: Serotonin signals through a gut-liver axis to regulate hepatic steatosis.

Authors:
Wonsuk Choi Jun Namkung Inseon Hwang Hyeongseok Kim Ajin Lim Hye Jung Park Hye Won Lee Kwang-Hyub Han Seongyeol Park Ji-Seon Jeong Geul Bang Young Hwan Kim Vijay K Yadav Gerard Karsenty Young Seok Ju Chan Choi Jae Myoung Suh Jun Yong Park Sangkyu Park Hail Kim

Nat Commun 2019 01 8;10(1):158. Epub 2019 Jan 8.

Graduate School of Medical Science and Engineering, KAIST, Daejeon, 34141, Republic of Korea.

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http://www.nature.com/articles/s41467-018-08085-x
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http://dx.doi.org/10.1038/s41467-018-08085-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325240PMC
January 2019

Association Between Expression Level of PD1 by Tumor-Infiltrating CD8 T Cells and Features of Hepatocellular Carcinoma.

Authors:
Hyung-Don Kim Gi-Won Song Seongyeol Park Min Kyung Jung Min Hwan Kim Hyo Jeong Kang Changhoon Yoo Kijong Yi Kyung Hwan Kim Sukyeong Eo Deok-Bog Moon Seung-Mo Hong Young Seok Ju Eui-Cheol Shin Shin Hwang Su-Hyung Park

Gastroenterology 2018 12 24;155(6):1936-1950.e17. Epub 2018 Aug 24.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.08.030DOI Listing
December 2018

Serotonin signals through a gut-liver axis to regulate hepatic steatosis.

Authors:
Wonsuk Choi Jun Namkung Inseon Hwang Hyeongseok Kim Ajin Lim Hye Jung Park Hye Won Lee Kwang-Hyub Han Seongyeol Park Ji-Seon Jeong Geul Bang Young Hwan Kim Vijay K Yadav Gerard Karsenty Young Seok Ju Chan Choi Jae Myoung Suh Jun Yong Park Sangkyu Park Hail Kim

Nat Commun 2018 11 16;9(1):4824. Epub 2018 Nov 16.

Graduate School of Medical Science and Engineering, KAIST, Daejeon, 34141, Republic of Korea.

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http://www.nature.com/articles/s41467-018-07287-7
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http://dx.doi.org/10.1038/s41467-018-07287-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240035PMC
November 2018

Human glioblastoma arises from subventricular zone cells with low-level driver mutations.

Authors:
Joo Ho Lee Jeong Eun Lee Jee Ye Kahng Se Hoon Kim Jun Sung Park Seon Jin Yoon Ji-Yong Um Woo Kyeong Kim June-Koo Lee Junseong Park Eui Hyun Kim Ji-Hyun Lee Joon-Hyuk Lee Won-Suk Chung Young Seok Ju Sung-Hong Park Jong Hee Chang Seok-Gu Kang Jeong Ho Lee

Nature 2018 08 1;560(7717):243-247. Epub 2018 Aug 1.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, South Korea.

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http://dx.doi.org/10.1038/s41586-018-0389-3DOI Listing
August 2018

Patterns and mechanisms of structural variations in human cancer.

Authors:
Kijong Yi Young Seok Ju

Exp Mol Med 2018 08 7;50(8):98. Epub 2018 Aug 7.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, 34141, Korea.

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http://dx.doi.org/10.1038/s12276-018-0112-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082854PMC
August 2018

Mutalisk: a web-based somatic MUTation AnaLyIS toolKit for genomic, transcriptional and epigenomic signatures.

Authors:
Jongkeun Lee Andy Jinseok Lee June-Koo Lee Jongkeun Park Youngoh Kwon Seongyeol Park Hyonho Chun Young Seok Ju Dongwan Hong

Nucleic Acids Res 2018 07;46(W1):W102-W108

Clinical Genomics Analysis Branch, National Cancer Center, Goyang 10408, Republic of Korea.

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https://academic.oup.com/nar/article/46/W1/W102/5001159
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http://dx.doi.org/10.1093/nar/gky406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030918PMC
July 2018

Alterations in the Rho pathway contribute to Epstein-Barr virus-induced lymphomagenesis in immunosuppressed environments.

Authors:
Sung-Yup Cho Chang Ohk Sung Jeesoo Chae Jieun Lee Deukchae Na Wonyoung Kang Jinjoo Kang Seoyeon Min Ahra Lee Eunhye Kwak Jooyoung Kim Boram Choi Hyunsoo Kim Jeffrey H Chuang Hyo-Kyung Pak Chan-Sik Park Sanghui Park Young Hyeh Ko Dakeun Lee Jin Roh Min-Sun Cho Seongyeol Park Young Seok Ju Yun-Suhk Suh Seong-Ho Kong Hyuk-Joon Lee James Keck Jacques Banchereau Edison T Liu Woo-Ho Kim Hansoo Park Han-Kwang Yang Jong-Il Kim Charles Lee

Blood 2018 04 23;131(17):1931-1941. Epub 2018 Feb 23.

The Jackson Laboratory for Genomic Medicine, Farmington, CT.

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http://dx.doi.org/10.1182/blood-2017-07-797209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921963PMC
April 2018

Sox7 promotes high-grade glioma by increasing VEGFR2-mediated vascular abnormality.

Authors:
Il-Kug Kim Kangsan Kim Eunhyeong Lee Dong Sun Oh Chan Soon Park Seongyeol Park Jee Myung Yang Ju-Hee Kim Hyung-Seok Kim David T Shima Jeong Hoon Kim Seok Ho Hong Young Hyun Cho Young Hoon Kim Jong Bae Park Gou Young Koh Young Seok Ju Heung Kyu Lee Seungjoo Lee Injune Kim

J Exp Med 2018 03 14;215(3):963-983. Epub 2018 Feb 14.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.

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http://dx.doi.org/10.1084/jem.20170123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839752PMC
March 2018

Clonal History and Genetic Predictors of Transformation Into Small-Cell Carcinomas From Lung Adenocarcinomas.

Authors:
June-Koo Lee Junehawk Lee Sehui Kim Soyeon Kim Jeonghwan Youk Seongyeol Park Yohan An Bhumsuk Keam Dong-Wan Kim Dae Seog Heo Young Tae Kim Jin-Soo Kim Se Hyun Kim Jong Seok Lee Se-Hoon Lee Keunchil Park Ja-Lok Ku Yoon Kyung Jeon Doo Hyun Chung Peter J Park Joon Kim Tae Min Kim Young Seok Ju

J Clin Oncol 2017 Sep 12;35(26):3065-3074. Epub 2017 May 12.

June-Koo Lee, Jeonghwan Youk, Seongyeol Park, Yohan An, Joon Kim, Young Seok Ju, Korea Advanced Institute of Science and Technology; Junehawk Lee, Korea Institute of Science and Technology Information, Daejeon; Sehui Kim, Bhumsuk Keam, Dong-Wan Kim, Dae Seog Heo, Young Tae Kim, Yoon Kyung Jeon, Doo Hyun Chung, Tae Min Kim, Seoul National University Hospital; Soyeon Kim, Bhumsuk Keam, Dong-Wan Kim, Dae Seog Heo, Young Tae Kim, Ja-Lok Ku, Yoon Kyung Jeon, Tae Min Kim, Seoul National University Cancer Research Institute; Jin-Soo Kim, Seoul Metropolitan Government-Seoul National University Boramae Medical Center; Se-Hoon Lee, Keunchil Park, Sungkyunkwan University School of Medicine; Doo Hyun Chung, Seoul National University College of Medicine, Seoul; Se Hyun Kim, Jong Seok Lee, Seoul National University Bundang Hospital, Seongnam, Republic of Korea; and Peter J. Park, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1200/JCO.2016.71.9096DOI Listing
September 2017

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.

Authors:
Young Seok Ju Inigo Martincorena Moritz Gerstung Mia Petljak Ludmil B Alexandrov Raheleh Rahbari David C Wedge Helen R Davies Manasa Ramakrishna Anthony Fullam Sancha Martin Christopher Alder Nikita Patel Steve Gamble Sarah O'Meara Dilip D Giri Torril Sauer Sarah E Pinder Colin A Purdie Åke Borg Henk Stunnenberg Marc van de Vijver Benita K T Tan Carlos Caldas Andrew Tutt Naoto T Ueno Laura J van 't Veer John W M Martens Christos Sotiriou Stian Knappskog Paul N Span Sunil R Lakhani Jórunn Erla Eyfjörd Anne-Lise Børresen-Dale Andrea Richardson Alastair M Thompson Alain Viari Matthew E Hurles Serena Nik-Zainal Peter J Campbell Michael R Stratton

Nature 2017 03 22;543(7647):714-718. Epub 2017 Mar 22.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.

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http://dx.doi.org/10.1038/nature21703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169740PMC
March 2017

Mutational signatures associated with tobacco smoking in human cancer.

Authors:
Ludmil B Alexandrov Young Seok Ju Kerstin Haase Peter Van Loo Iñigo Martincorena Serena Nik-Zainal Yasushi Totoki Akihiro Fujimoto Hidewaki Nakagawa Tatsuhiro Shibata Peter J Campbell Paolo Vineis David H Phillips Michael R Stratton

Science 2016 11;354(6312):618-622

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, Cambridgeshire, UK.

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http://dx.doi.org/10.1126/science.aag0299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141049PMC
November 2016

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.

Authors:
Adam Shlien Keiran Raine Fabio Fuligni Roland Arnold Serena Nik-Zainal Serge Dronov Lira Mamanova Andrej Rosic Young Seok Ju Susanna L Cooke Manasa Ramakrishna Elli Papaemmanuil Helen R Davies Patrick S Tarpey Peter Van Loo David C Wedge David R Jones Sancha Martin John Marshall Elizabeth Anderson Claire Hardy Violetta Barbashina Samuel A J R Aparicio Torill Sauer Øystein Garred Anne Vincent-Salomon Odette Mariani Sandrine Boyault Aquila Fatima Anita Langerød Åke Borg Gilles Thomas Andrea L Richardson Anne-Lise Børresen-Dale Kornelia Polyak Michael R Stratton Peter J Campbell

Cell Rep 2016 08 4;16(7):2032-46. Epub 2016 Aug 4.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Department of Haematology, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; Department of Haematology, University of Cambridge, Cambridge CB2 1TN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.07.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987284PMC
August 2016

Intracellular mitochondrial DNA transfers to the nucleus in human cancer cells.

Authors:
Young Seok Ju

Curr Opin Genet Dev 2016 06 22;38:23-30. Epub 2016 Mar 22.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2016.02.005DOI Listing
June 2016

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Authors:
Serena Nik-Zainal Helen Davies Johan Staaf Manasa Ramakrishna Dominik Glodzik Xueqing Zou Inigo Martincorena Ludmil B Alexandrov Sancha Martin David C Wedge Peter Van Loo Young Seok Ju Marcel Smid Arie B Brinkman Sandro Morganella Miriam R Aure Ole Christian Lingjærde Anita Langerød Markus Ringnér Sung-Min Ahn Sandrine Boyault Jane E Brock Annegien Broeks Adam Butler Christine Desmedt Luc Dirix Serge Dronov Aquila Fatima John A Foekens Moritz Gerstung Gerrit K J Hooijer Se Jin Jang David R Jones Hyung-Yong Kim Tari A King Savitri Krishnamurthy Hee Jin Lee Jeong-Yeon Lee Yilong Li Stuart McLaren Andrew Menzies Ville Mustonen Sarah O'Meara Iris Pauporté Xavier Pivot Colin A Purdie Keiran Raine Kamna Ramakrishnan F Germán Rodríguez-González Gilles Romieu Anieta M Sieuwerts Peter T Simpson Rebecca Shepherd Lucy Stebbings Olafur A Stefansson Jon Teague Stefania Tommasi Isabelle Treilleux Gert G Van den Eynden Peter Vermeulen Anne Vincent-Salomon Lucy Yates Carlos Caldas Laura van't Veer Andrew Tutt Stian Knappskog Benita Kiat Tee Tan Jos Jonkers Åke Borg Naoto T Ueno Christos Sotiriou Alain Viari P Andrew Futreal Peter J Campbell Paul N Span Steven Van Laere Sunil R Lakhani Jorunn E Eyfjord Alastair M Thompson Ewan Birney Hendrik G Stunnenberg Marc J van de Vijver John W M Martens Anne-Lise Børresen-Dale Andrea L Richardson Gu Kong Gilles Thomas Michael R Stratton

Nature 2016 06 2;534(7605):47-54. Epub 2016 May 2.

Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1038/nature17676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910866PMC
June 2016

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Authors:
Kristel Kemper Oscar Krijgsman Xiangjun Kong Paulien Cornelissen-Steijger Aida Shahrabi Fleur Weeber Daphne L van der Velden Onno B Bleijerveld Thomas Kuilman Roel J C Kluin Chong Sun Emile E Voest Young Seok Ju Ton N M Schumacher A F Maarten Altelaar Ultan McDermott David J Adams Christian U Blank John B Haanen Daniel S Peeper

Cell Rep 2016 06 16;16(1):263-277. Epub 2016 Jun 16.

Division of Molecular Oncology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.05.064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929150PMC
June 2016

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.

Authors:
Young Seok Ju Jose M C Tubio William Mifsud Beiyuan Fu Helen R Davies Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J Van't Veer Benita K T Tan Samuel Aparicio Paul N Span John W M Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M Flanagan Christopher Foster David E Neal Colin Cooper Rosalind Eeles G Steven Bova Sunil R Lakhani Christine Desmedt Gilles Thomas Andrea L Richardson Colin A Purdie Alastair M Thompson Ultan McDermott Fengtang Yang Serena Nik-Zainal Peter J Campbell Michael R Stratton

Genome Res 2016 05;26(5):717.2

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http://dx.doi.org/10.1101/gr.206557.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864453PMC
May 2016

Recurrent fusion transcripts detected by whole-transcriptome sequencing of 120 primary breast cancer samples.

Authors:
Jisun Kim Sehwan Kim Seyoon Ko Yong-ho In Hyeong-Gon Moon Soo Kyung Ahn Min Kyoon Kim Minju Lee Jin-Ha Hwang Young Seok Ju Jong-Il Kim Dong-Young Noh Sun Kim Jung-Hoon Park Hwanseok Rhee Sunghoon Kim Wonshik Han

Genes Chromosomes Cancer 2015 Nov 30;54(11):681-91. Epub 2015 Jul 30.

Department of Surgery, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.1002/gcc.22279DOI Listing
November 2015

Subclonal diversification of primary breast cancer revealed by multiregion sequencing.

Authors:
Lucy R Yates Moritz Gerstung Stian Knappskog Christine Desmedt Gunes Gundem Peter Van Loo Turid Aas Ludmil B Alexandrov Denis Larsimont Helen Davies Yilong Li Young Seok Ju Manasa Ramakrishna Hans Kristian Haugland Peer Kaare Lilleng Serena Nik-Zainal Stuart McLaren Adam Butler Sancha Martin Dominic Glodzik Andrew Menzies Keiran Raine Jonathan Hinton David Jones Laura J Mudie Bing Jiang Delphine Vincent April Greene-Colozzi Pierre-Yves Adnet Aquila Fatima Marion Maetens Michail Ignatiadis Michael R Stratton Christos Sotiriou Andrea L Richardson Per Eystein Lønning David C Wedge Peter J Campbell

Nat Med 2015 Jul 22;21(7):751-9. Epub 2015 Jun 22.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/nm.3886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500826PMC
July 2015

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.

Authors:
Young Seok Ju Jose M C Tubio William Mifsud Beiyuan Fu Helen R Davies Manasa Ramakrishna Yilong Li Lucy Yates Gunes Gundem Patrick S Tarpey Sam Behjati Elli Papaemmanuil Sancha Martin Anthony Fullam Moritz Gerstung Jyoti Nangalia Anthony R Green Carlos Caldas Åke Borg Andrew Tutt Ming Ta Michael Lee Laura J van't Veer Benita K T Tan Samuel Aparicio Paul N Span John W M Martens Stian Knappskog Anne Vincent-Salomon Anne-Lise Børresen-Dale Jórunn Erla Eyfjörd Ola Myklebost Adrienne M Flanagan Christopher Foster David E Neal Colin Cooper Rosalind Eeles Steven G Bova Sunil R Lakhani Christine Desmedt Gilles Thomas Andrea L Richardson Colin A Purdie Alastair M Thompson Ultan McDermott Fengtang Yang Serena Nik-Zainal Peter J Campbell Michael R Stratton

Genome Res 2015 06 11;25(6):814-24. Epub 2015 May 11.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom;

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http://dx.doi.org/10.1101/gr.190470.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448678PMC
June 2015

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Authors:
Young Seok Ju Ludmil B Alexandrov Moritz Gerstung Inigo Martincorena Serena Nik-Zainal Manasa Ramakrishna Helen R Davies Elli Papaemmanuil Gunes Gundem Adam Shlien Niccolo Bolli Sam Behjati Patrick S Tarpey Jyoti Nangalia Charles E Massie Adam P Butler Jon W Teague George S Vassiliou Anthony R Green Ming-Qing Du Ashwin Unnikrishnan John E Pimanda Bin Tean Teh Nikhil Munshi Mel Greaves Paresh Vyas Adel K El-Naggar Tom Santarius V Peter Collins Richard Grundy Jack A Taylor D Neil Hayes David Malkin Christopher S Foster Anne Y Warren Hayley C Whitaker Daniel Brewer Rosalind Eeles Colin Cooper David Neal Tapio Visakorpi William B Isaacs G Steven Bova Adrienne M Flanagan P Andrew Futreal Andy G Lynch Patrick F Chinnery Ultan McDermott Michael R Stratton Peter J Campbell

Elife 2014 Oct 1;3. Epub 2014 Oct 1.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom.

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http://dx.doi.org/10.7554/eLife.02935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371858PMC
October 2014

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

Authors:
Jose M C Tubio Yilong Li Young Seok Ju Inigo Martincorena Susanna L Cooke Marta Tojo Gunes Gundem Christodoulos P Pipinikas Jorge Zamora Keiran Raine Andrew Menzies Pablo Roman-Garcia Anthony Fullam Moritz Gerstung Adam Shlien Patrick S Tarpey Elli Papaemmanuil Stian Knappskog Peter Van Loo Manasa Ramakrishna Helen R Davies John Marshall David C Wedge Jon W Teague Adam P Butler Serena Nik-Zainal Ludmil Alexandrov Sam Behjati Lucy R Yates Niccolo Bolli Laura Mudie Claire Hardy Sancha Martin Stuart McLaren Sarah O'Meara Elizabeth Anderson Mark Maddison Stephen Gamble Christopher Foster Anne Y Warren Hayley Whitaker Daniel Brewer Rosalind Eeles Colin Cooper David Neal Andy G Lynch Tapio Visakorpi William B Isaacs Laura Van't Veer Carlos Caldas Christine Desmedt Christos Sotiriou Sam Aparicio John A Foekens Jórunn Erla Eyfjörd Sunil R Lakhani Gilles Thomas Ola Myklebost Paul N Span Anne-Lise Børresen-Dale Andrea L Richardson Marc Van de Vijver Anne Vincent-Salomon Gert G Van den Eynden Adrienne M Flanagan P Andrew Futreal Sam M Janes G Steven Bova Michael R Stratton Ultan McDermott Peter J Campbell

Science 2014 Aug;345(6196):1251343

Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1126/science.1251343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380235PMC
August 2014

Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.

Authors:
Hyun-Jin Kim Yun Joo Yoo Young Seok Ju Seungbok Lee Sung-Il Cho Joohon Sung Jong-Il Kim Jeong-Sun Seo

Obesity (Silver Spring) 2013 Nov 2;21(11):2405-12. Epub 2013 Jul 2.

Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/oby.20153DOI Listing
November 2013

Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma.

Authors:
Heounjeong Go Yoo Jin Jung Hyun Woong Kang In-Kyu Park Chang-Hyun Kang Jung Wan Lee Young Seok Ju Jeong-Sun Seo Doo Hyun Chung Young Tae Kim

Lung Cancer 2013 Oct 9;82(1):44-50. Epub 2013 Aug 9.

Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.lungcan.2013.07.009DOI Listing
October 2013

TIARA genome database: update 2013.

Authors:
Dongwan Hong Jongkeun Lee Thomas Bleazard HyunChul Jung Young Seok Ju Saet-byeol Yu Sujung Kim Sung-Soo Park Jong-Il Kim Jeong-Sun Seo

Database (Oxford) 2013 20;2013:bat003. Epub 2013 Mar 20.

Cancer Genomics Branch, Division of Convergence Technology, National Cancer Center, Gyeonggi-do 410-769, Korea.

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http://dx.doi.org/10.1093/database/bat003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3602786PMC
June 2013

Fine-scale mapping of meiotic recombination in Asians.

Authors:
Thomas Bleazard Young Seok Ju Joohon Sung Jeong-Sun Seo

BMC Genet 2013 Mar 8;14:19. Epub 2013 Mar 8.

Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul, South Korea.

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http://dx.doi.org/10.1186/1471-2156-14-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599818PMC
March 2013

A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population.

Authors:
Hansoo Park Hyun-Jin Kim Seungbok Lee Yun Joo Yoo Young Seok Ju Jung Eun Lee Sung-Il Cho Joohon Sung Jong-Il Kim Jeong-Sun Seo

Kidney Int 2013 Feb 19;83(2):285-92. Epub 2012 Dec 19.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea.

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http://dx.doi.org/10.1038/ki.2012.389DOI Listing
February 2013

Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population.

Authors:
Hansoo Park Seungbok Lee Hyun-Jin Kim Young Seok Ju Jong-Yeon Shin Dongwan Hong Marcin von Grotthuss Dong-Sung Lee Changho Park Jennifer Hayeon Kim Boram Kim Yun Joo Yoo Sung-Il Cho Joohon Sung Charles Lee Jong-Il Kim Jeong-Sun Seo

J Med Genet 2012 Dec 1;49(12):747-52. Epub 2012 Nov 1.

Medical Research Center, Genomic Medicine Institute (GMI), Seoul National University, Seoul, Korea.

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http://dx.doi.org/10.1136/jmedgenet-2012-101209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512346PMC
December 2012

The transcriptional landscape and mutational profile of lung adenocarcinoma.

Authors:
Jeong-Sun Seo Young Seok Ju Won-Chul Lee Jong-Yeon Shin June Koo Lee Thomas Bleazard Junho Lee Yoo Jin Jung Jung-Oh Kim Jung-Young Shin Saet-Byeol Yu Jihye Kim Eung-Ryoung Lee Chang-Hyun Kang In-Kyu Park Hwanseok Rhee Se-Hoon Lee Jong-Il Kim Jin-Hyoung Kang Young Tae Kim

Genome Res 2012 Nov 13;22(11):2109-19. Epub 2012 Sep 13.

Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, Korea.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.145144.112
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http://dx.doi.org/10.1101/gr.145144.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483540PMC
November 2012

A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing.

Authors:
Young Seok Ju Won-Chul Lee Jong-Yeon Shin Seungbok Lee Thomas Bleazard Jae-Kyung Won Young Tae Kim Jong-Il Kim Jin-Hyoung Kang Jeong-Sun Seo

Genome Res 2012 Mar 22;22(3):436-45. Epub 2011 Dec 22.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.

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http://dx.doi.org/10.1101/gr.133645.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290779PMC
March 2012

Gene mapping study for constitutive skin color in an isolated Mongolian population.

Authors:
Seung Hwan Paik Hyun-Jin Kim Ho-Young Son Seungbok Lee Sun-Wha Im Young Seok Ju Je Ho Yeon Seong Jin Jo Hee Chul Eun Jeong-Sun Seo Oh Sang Kwon Jong-Il Kim

Exp Mol Med 2012 Mar;44(3):241-9

Department of Dermatology Seoul National University College of Medicine, Seoul 110-799, Korea.

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http://www.nature.com/doifinder/10.3858/emm.2012.44.3.020
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http://dx.doi.org/10.3858/emm.2012.44.3.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317488PMC
March 2012

FX: an RNA-Seq analysis tool on the cloud.

Authors:
Dongwan Hong Arang Rhie Sung-Soo Park Jongkeun Lee Young Seok Ju Sujung Kim Saet-Byeol Yu Thomas Bleazard Hyun-Seok Park Hwanseok Rhee Hyonyong Chong Kap-Seok Yang Yeon-Su Lee In-Hoo Kim Jin Soo Lee Jong-Il Kim Jeong-Sun Seo

Bioinformatics 2012 Mar 17;28(5):721-3. Epub 2012 Jan 17.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul.

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http://dx.doi.org/10.1093/bioinformatics/bts023DOI Listing
March 2012

Linkage and association scan for tanning ability in an isolated Mongolian population.

Authors:
Seung Hwan Paik Hyun-Jin Kim Seungbok Lee Sun-Wha Im Young Seok Ju Je Ho Yeon Seong Jin Jo Hee Chul Eun Jeong-Sun Seo Jong-Il Kim Oh Sang Kwon

BMB Rep 2011 Nov;44(11):741-6

Institute of Dermatological Science, Seoul National University College of Medicine, Korea.

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http://dx.doi.org/10.5483/BMBRep.2011.44.11.741DOI Listing
November 2011

Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

Authors:
Young Seok Ju Jong-Il Kim Sheehyun Kim Dongwan Hong Hansoo Park Jong-Yeon Shin Seungbok Lee Won-Chul Lee Sujung Kim Saet-Byeol Yu Sung-Soo Park Seung-Hyun Seo Ji-Young Yun Hyun-Jin Kim Dong-Sung Lee Maryam Yavartanoo Hyunseok Peter Kang Omer Gokcumen Diddahally R Govindaraju Jung Hee Jung Hyonyong Chong Kap-Seok Yang Hyungtae Kim Charles Lee Jeong-Sun Seo

Nat Genet 2011 Jul 3;43(8):745-52. Epub 2011 Jul 3.

Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul, Korea.

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http://dx.doi.org/10.1038/ng.872DOI Listing
July 2011

The first Irish genome and ways of improving sequence accuracy.

Authors:
Young Seok Ju Yun Joo Yoo Jong-Il Kim Jeong-Sun Seo

Genome Biol 2010 7;11(9):132. Epub 2010 Sep 7.

Genomic Medicine Institute, Medical Research Center, Seoul National University, 28 Yongon-Dong, Jongno-Gu, Seoul 110-799, Korea.

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http://genomebiology.biomedcentral.com/articles/10.1186/gb-2
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http://dx.doi.org/10.1186/gb-2010-11-9-132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965376PMC
February 2011

TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology.

Authors:
Dongwan Hong Sung-Soo Park Young Seok Ju Sheehyun Kim Jong-Yeon Shin Sujung Kim Saet-Byeol Yu Won-Chul Lee Seungbok Lee Hansoo Park Jong-Il Kim Jeong-Sun Seo

Nucleic Acids Res 2011 Jan 4;39(Database issue):D883-8. Epub 2010 Nov 4.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.

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http://dx.doi.org/10.1093/nar/gkq1101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013693PMC
January 2011

Reference-unbiased copy number variant analysis using CGH microarrays.

Authors:
Young Seok Ju Dongwan Hong Sheehyun Kim Sung-Soo Park Sujung Kim Seungbok Lee Hansoo Park Jong-Il Kim Jeong-Sun Seo

Nucleic Acids Res 2010 Nov 27;38(20):e190. Epub 2010 Aug 27.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul 110-799, Korea.

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http://dx.doi.org/10.1093/nar/gkq730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978381PMC
November 2010

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

Authors:
Hansoo Park Jong-Il Kim Young Seok Ju Omer Gokcumen Ryan E Mills Sheehyun Kim Seungbok Lee Dongwhan Suh Dongwan Hong Hyunseok Peter Kang Yun Joo Yoo Jong-Yeon Shin Hyun-Jin Kim Maryam Yavartanoo Young Wha Chang Jung-Sook Ha Wilson Chong Ga-Ram Hwang Katayoon Darvishi Hyeran Kim Song Ju Yang Kap-Seok Yang Hyungtae Kim Matthew E Hurles Stephen W Scherer Nigel P Carter Chris Tyler-Smith Charles Lee Jeong-Sun Seo

Nat Genet 2010 May 4;42(5):400-5. Epub 2010 Apr 4.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.

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http://dx.doi.org/10.1038/ng.555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329635PMC
May 2010

A highly annotated whole-genome sequence of a Korean individual.

Authors:
Jong-Il Kim Young Seok Ju Hansoo Park Sheehyun Kim Seonwook Lee Jae-Hyuk Yi Joann Mudge Neil A Miller Dongwan Hong Callum J Bell Hye-Sun Kim In-Soon Chung Woo-Chung Lee Ji-Sun Lee Seung-Hyun Seo Ji-Young Yun Hyun Nyun Woo Heewook Lee Dongwhan Suh Seungbok Lee Hyun-Jin Kim Maryam Yavartanoo Minhye Kwak Ying Zheng Mi Kyeong Lee Hyunjun Park Jeong Yeon Kim Omer Gokcumen Ryan E Mills Alexander Wait Zaranek Joseph Thakuria Xiaodi Wu Ryan W Kim Jim J Huntley Shujun Luo Gary P Schroth Thomas D Wu HyeRan Kim Kap-Seok Yang Woong-Yang Park Hyungtae Kim George M Church Charles Lee Stephen F Kingsmore Jeong-Sun Seo

Nature 2009 Aug 8;460(7258):1011-5. Epub 2009 Jul 8.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.

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http://dx.doi.org/10.1038/nature08211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860965PMC
August 2009

Higher mitochondrial DNA copy number is associated with lower prevalence of microalbuminuria.

Authors:
Jung Eun Lee Hansoo Park Young Seok Ju Minhye Kwak Jong Il Kim Ha Young Oh Jeong Sun Seo

Exp Mol Med 2009 Apr;41(4):253-8

Division of Nephrology, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.

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http://dx.doi.org/10.3858/emm.2009.41.4.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679230PMC
April 2009

A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study.

Authors:
Young Seok Ju Hansoo Park Mi-Kyeong Lee Jong-Il Kim Joohon Sung Sung-Il Cho Jeong-Sun Seo

BMC Genomics 2008 Nov 25;9:554. Epub 2008 Nov 25.

Department of Biochemistry and Molecular Biology, College of Medicine, Seoul National University, Seoul, Korea.

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http://link.springer.com/content/pdf/10.1186/1471-2164-9-554
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http://www.biomedcentral.com/1471-2164/9/554
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http://dx.doi.org/10.1186/1471-2164-9-554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2612022PMC
November 2008

Heritability and linkage study on heart rates in a Mongolian population.

Authors:
Bayasgalan Gombojav Hansoo Park Jong Il Kim Young Seok Ju Joohon Sung Sung Il Cho Mi Kyeong Lee Heechoul Ohrr Janchiv Radnaabazar Jeong Sun Seo

Exp Mol Med 2008 Oct;40(5):558-64

Department of Public Health, The Graduate School, Yonsei University, Seoul 120-752, Korea.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679351PMC
http://dx.doi.org/10.3858/emm.2008.40.5.558DOI Listing
October 2008