Murim Choi

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 29

Top Venues

Nature communications

Experimental & molecular medicine

Annals of neurology

Scientific reports

Seoul National University

Duke University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Seoul National University Mar 01 2017

South Korea

Associate Professor :: Biomedical Sciences

Seoul National University Mar 01 2013 - Feb 28 2017

South Korea

Assistant Professor :: Biomedical Sciences

Yale University Jul 01 2006 - Feb 28 2013

United States

Postdoc/Associate Research Scientist :: Genetics

Education History

Duke University Sep 01 2001 - Dec 20 2006

United States

PHD :: Cell Biology

Seoul National University Mar 02 1998 - Feb 26 2000

South Korea

MSC :: Molecular Biology

Seoul National University Mar 02 1994 - Feb 26 1998

South Korea

BSC :: Molecular Biology

Publications

Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Yong Ryoul Kim, Jaegeon Joo, Hee Jung Lee, Chaelim Kim, Ju-Chan Park, Young Suk Yu, Chang Rok Kim, Do Hui Lee, Joowon Cha, Hyemin Kwon, Kimberley M Hanssen, Thomas G P Grünewald, Murim Choi, Ilkyu Han, Sangsu Bae, Inkyung Jung, Yongdae Shin, Sung Hee Baek
Prion-like domain mediated phase separation of ARID1A promotes oncogenic potential of Ewing's sarcoma. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Yong Ryoul Kim, Jaegeon Joo, Hee Jung Lee, Chaelim Kim, Ju-Chan Park, Young Suk Yu, Chang Rok Kim, Do Hui Lee, Joowon Cha, Hyemin Kwon, Kimberley M Hanssen, Thomas G P Grünewald, Murim Choi, Ilkyu Han, Sangsu Bae, Inkyung Jung, Yongdae Shin, Sung Hee Baek
Prion-like domain mediated phase separation of ARID1A promotes oncogenic potential of Ewing's sarcoma. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Cho-Rong Lee, Jungyo Suh, Dongjun Jang, Bo-Yeong Jin, Jaeso Cho, Moses Lee, Hyungtai Sim, Minyong Kang, Jueun Lee, Ju Hyun Park, Kyoung-Hwa Lee, Geum-Sook Hwang, Kyung Chul Moon, Cheryn Song, Ja Hyeon Ku, Cheol Kwak, Hyeon Hoe Kim, Sung-Yup Cho, Murim Choi, Chang Wook Jeong
Comprehensive molecular characterization of TFE3-rearranged renal cell carcinoma. Experimental & molecular medicine (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Yong Ryoul Kim, Jaegeon Joo, Hee Jung Lee, Chaelim Kim, Ju-Chan Park, Young Suk Yu, Chang Rok Kim, Do Hui Lee, Joowon Cha, Hyemin Kwon, Kimberley M Hanssen, Thomas G P Grünewald, Murim Choi, Ilkyu Han, Sangsu Bae, Inkyung Jung, Yongdae Shin, Sung Hee Baek
Prion-like domain mediated phase separation of ARID1A promotes oncogenic potential of Ewing's sarcoma. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Krzysztof Kiryluk, Elena Sanchez, Xu-Jie Zhou, Francesca Zanoni, Lili Liu, Nikol Mladkova, Atlas Khan, Maddalena Marasa, Junying Zhang, Olivia Balderes, Simone Sanna-Cherchi, Andrew S Bomback, Pietro A Canetta, Gerald B Appel, Jai Radhakrishnan, Hernan Trimarchi, Ben Sprangers, Daniel C Cattran, Heather Reich, York Pei, Pietro Ravani, Kresimir Galesic, Dita Maixnerova, Vladimir Tesar, Benedicte Stengel, Marie Metzger, Guillaume Canaud, Nicolas Maillard, Francois Berthoux, Laureline Berthelot, Evangeline Pillebout, Renato Monteiro, Raoul Nelson, Robert J Wyatt, William Smoyer, John Mahan, Al-Akash Samhar, Guillermo Hidalgo, Alejandro Quiroga, Patricia Weng, Raji Sreedharan, David Selewski, Keefe Davis, Mahmoud Kallash, Tetyana L Vasylyeva, Michelle Rheault, Aftab Chishti, Daniel Ranch, Scott E Wenderfer, Dmitry Samsonov, Donna J Claes, Oleh M Akchurin, Dimitrios Goumenos, Maria J Stangou, Judit Nagy, Tibor Kovacs, Enrico Fiaccadori, Antonio Amoroso, Cristina Barlassina, Daniele Cusi, Lucia Del Vecchio, Giovanni Giorgio Battaglia, Monica Bodria, Emanuela Boer, Luisa Bono, Giuliano Boscutti, Gianluca Caridi, Francesca Lugani, Gian Marco Ghiggeri, Rosanna Coppo, Licia Peruzzi, Vittoria Esposito, Ciro Esposito, Sandro Feriozzi, Rosaria Polci, Giovanni Frasca, Marco Galliani, Maurizio Garozzo, Adele Mitrotti, Loreto Gesualdo, Simona Granata, Gianluigi Zaza, Francesco Londrino, Riccardo Magistroni, Isabella Pisani, Andrea Magnano, Carmelita Marcantoni, Piergiorgio Messa, Renzo Mignani, Antonello Pani, Claudio Ponticelli, Dario Roccatello, Maurizio Salvadori, Erica Salvi, Domenico Santoro, Guido Gembillo, Silvana Savoldi, Donatella Spotti, Pasquale Zamboli, Claudia Izzi, Federico Alberici, Elisa Delbarba, Michał Florczak, Natalia Krata, Krzysztof Mucha, Leszek Pączek, Stanisław Niemczyk, Barbara Moszczuk, Malgorzata Pańczyk-Tomaszewska, Malgorzata Mizerska-Wasiak, Agnieszka Perkowska-Ptasińska, Teresa Bączkowska, Magdalena Durlik, Krzysztof Pawlaczyk, Przemyslaw Sikora, Marcin Zaniew, Dorota Kaminska, Magdalena Krajewska, Izabella Kuzmiuk-Glembin, Zbigniew Heleniak, Barbara Bullo-Piontecka, Tomasz Liberek, Alicja Dębska-Slizien, Tomasz Hryszko, Anna Materna-Kiryluk, Monika Miklaszewska, Shaji K Kumar, Katarzyna Dyga, Edyta Machura, Katarzyna Siniewicz-Luzeńczyk, Monika Pawlak-Bratkowska, Marcin Tkaczyk, Dariusz Runowski, Norbert Kwella, Dorota Drożdż, Ireneusz Habura, Florian Kronenberg, Larisa Prikhodina, David A van Heel, Bertrand Fontaine, Chris Cotsapas, Cisca Wijmenga, Andre Franke, Vito Annese, Peter K Gregersen, Sreeja Parameswaran, Matthew T Weirauch, Leah C Kottyan, John B Harley, Hitoshi Suzuki, Ichiei Narita, Shin Goto, Hajeong Lee, Dong-Ki Kim, Yon Su Kim, Jin Ho Park, BeLong Cho, Murim Choi, Ans Van Wijk, Ana Huerta, Elisabet Ars, Jose Ballarin, Sigrid Lundberg, Bruno Vogt, Laila-Yasmin Mani, Yasar Caliskan, Jonathan Barratt, Thilini Abeygunaratne, Philip A Kalra, Daniel P Gale, Ulf Panzer, Thomas Rauen, Jürgen Floege, Pascal Schlosser, Arif Bülent Ekici, Kai Uwe Eckardt, Nan Chen, Jingyuan Xie, Richard P Lifton, Ruth J F Loos, Eimear E Kenny, Iuliana Ionita-Laza, Anna Kottgen, Bruce A Julian, Jan Novak, Francesco Scolari, Hong Zhang, Ali G Gharavi
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature genetics (2023)
Kyung Seok Oh, Jae Won Roh, Sun Young Joo, Kunhi Ryu, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Young Ik Koh, Da Hye Kim, Hye-Youn Kim, Murim Choi, Jinsei Jung, Wan Namkung, Joo Hyun Nam, Jae Young Choi, Heon Yung Gee
Overlooked KCNQ4 variants augment the risk of hearing loss. Experimental & molecular medicine (2023)
Sung Eun Hong, Jana Kneissl, Anna Cho, Man Jin Kim, Soojin Park, Jeongeun Lee, Sijae Woo, Sora Kim, Jun-Soon Kim, Soo Yeon Kim, Sungwon Jung, Jinkuk Kim, Je-Young Shin, Jong-Hee Chae, Murim Choi
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases. Journal of medical genetics 59 (11) (2022)
Hyun Woo Lee, Goh-Eun Chung, Bo Kyung Koo, Hyungtai Sim, Murim Choi, Dong Hyeon Lee, Seung Ho Choi, Soo Heon Kwak, Deog Kyeom Kim, Won Kim, null null
Impact of Evolutionary Changes in Nonalcoholic Fatty Liver Disease on Lung Function Decline. Gut and liver (2022)
Jeongeun Lee, Jean Lee, Sungwon Jeon, Jeongha Lee, Insu Jang, Jin Ok Yang, Soojin Park, Byungwook Lee, Jinwook Choi, Byung-Ok Choi, Heon Yung Gee, Jaeseong Oh, In-Jin Jang, Sanghyuk Lee, Daehyun Baek, Youngil Koh, Sung Soo Yoon, Young-Joon Kim, Jong-Hee Chae, Woong-Yang Park, Jong Hwa Bhak, Murim Choi
A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population. Experimental & molecular medicine 54 (11) (2022)
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S Stolerman, Sarah S Barnett, Margot A Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H Nemeth, Dhivyaa Rajasundaram, A Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R McCurry, John E Landers, Sameer Agnihotri, E Corina Andriescu, Shade B Moody, Chanika Phornphutkul, Maria J Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G Bönnemann, Matias Wagner, Mahmoud Y Issa, Hasnaa M Elbendary, Valentina Stanley, Reza Maroofian, Joseph G Gleeson, Maha Saad Zaki, Jan Senderek, Udai Bhan Pandey
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications 12 (1) (2021)
Jong-Chan Park, So-Yeong Jang, Dongjoon Lee, Jeongha Lee, Uiryong Kang, Hongjun Chang, Haeng Jun Kim, Sun-Ho Han, Jinsoo Seo, Murim Choi, Dong Young Lee, Min Soo Byun, Dahyun Yi, Kwang-Hyun Cho, Inhee Mook-Jung
A logical network-based drug-screening platform for Alzheimer's disease representing pathological features of human brain organoids. Nature communications 12 (1) (2021)
Yongjin Yoo, Sang-Yoon Park, Eun Byeol Jo, Minji Choi, Kyo Won Lee, Doopyo Hong, Sangmoon Lee, Cho-Rong Lee, Youngha Lee, Jae-Young Um, Jae Berm Park, Sung Wook Seo, Yoon-La Choi, Sungjoo Kim, Seok-Geun Lee, Murim Choi
Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers 13 (13) (2021)
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun-Dae Kim, Ah-Ra Kim, Boryeong Park, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jeong Kee Seo, Young Bae Sohn, Ok-Hwa Kim, Jung Min Ko, Tae-Joon Cho, Nathan T Wright, Je-Kyung Seong, Suk-Won Jin, Hyoung Jin Kang, Hyeon Ho Kim, Murim Choi
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood 138 (21) (2021)
Jieun Seo, Min Soo Byun, Dahyun Yi, Jun Ho Lee, So Yeon Jeon, Seong A Shin, Yu Kyeong Kim, Koung Mi Kang, Chul-Ho Sohn, Gijung Jung, Jong-Chan Park, Sun-Ho Han, Jayoung Byun, Inhee Mook-Jung, Dong Young Lee, Murim Choi, null null
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimer's research & therapy 12 (1) (2020)
Hyuna Kim, Jin Sook Lee, Youngha Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Murim Choi, Jong-Hee Chae
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features. Yonsei medical journal 60 (12) (2020)
Youngha Lee, Soojin Park, Jin Sook Lee, Soo Yeon Kim, Jaeso Cho, Yongjin Yoo, Sangmoon Lee, Taekyeong Yoo, Moses Lee, Jieun Seo, Jeongeun Lee, Jana Kneissl, Jean Lee, Hyoungseok Jeon, Eun Young Jeon, Sung Eun Hong, Eunha Kim, Hyuna Kim, Woo Joong Kim, Jon Soo Kim, Jung Min Ko, Anna Cho, Byung Chan Lim, Won Seop Kim, Murim Choi, Jong-Hee Chae
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Scientific reports 10 (1) (2020)
Jieun Seo, Cho-Rong Lee, Jin Chul Paeng, Hyun W Kwon, Duckgue Lee, Soon-Chan Kim, Jaeseok Han, Ja-Lok Ku, Jong Hee Chae, Byung Chan Lim, Murim Choi
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy. Annals of clinical and translational neurology 7 (8) (2020)
Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Mannikko, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G Monaghan, Teresa Santiago-Sim, Richard E Person, Megan T Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M Motazacker, Bregje Jaeger, Amy L Schneider, Katja Boysen, Alison M Muir, Candace T Myers, Ralitza H Gavrilova, Lauren Gunderson, Laura E Schultz-Rogers, Eric W Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, null null, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C Mefford, Ingrid E Scheffer, Jill Clayton-Smith, Alfons Macaya, James E Rothman, Evan E Eichler, Dimitri Michael Kullmann, Henry Houlden
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature communications 10 (1) (2019)
Yongjin Yoo, Jaeso Cho, Murim Choi
Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype". Annals of neurology 83 (2) (2019)
Ute I Scholl, Gabriel Stölting, Julia Schewe, Anne Thiel, Hua Tan, Carol Nelson-Williams, Alfred A Vichot, Sheng Chih Jin, Erin Loring, Verena Untiet, Taekyeong Yoo, Jungmin Choi, Shengxin Xu, Aihua Wu, Marieluise Kirchner, Philipp Mertins, Lars C Rump, Ali Mirza Onder, Cory Gamble, Daniel McKenney, Robert W Lash, Deborah P Jones, Gary Chune, Priscila Gagliardi, Murim Choi, Richard Gordon, Michael Stowasser, Christoph Fahlke, Richard P Lifton
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nature genetics 50 (3) (2018)
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. Experimental & molecular medicine 49 (12) (2017)
Sangmoon Lee, Jihae Seo, Jinman Park, Jae-Yong Nam, Ahyoung Choi, Jason S Ignatius, Robert D Bjornson, Jong-Hee Chae, In-Jin Jang, Sanghyuk Lee, Woong-Yang Park, Daehyun Baek, Murim Choi
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Scientific reports 7 (1) (2017)
Yongjin Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsay B Henderson, Rebecca Willaert, Christopher Castaldi, Irina Tikhonova, Kaya Bilgüvar, Shrikant Mane, Ki Joong Kim, Yong Seung Hwang, Seok-Geun Lee, Insuk So, Byung Chan Lim, Hee-Jung Choi, Jae Young Seong, Yong Beom Shin, Hosung Jung, Jong-Hee Chae, Murim Choi
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Annals of neurology 82 (3) (2017)
Soo Heon Kwak, Jeesoo Chae, Seongmin Choi, Min Jung Kim, Murim Choi, Jong-Hee Chae, Eun-Hae Cho, Tai Ju Hwang, Se Song Jang, Jong-Il Kim, Kyong Soo Park, Yung-Jue Bang
Findings of a 1303 Korean whole-exome sequencing study. Experimental & molecular medicine 49 (7) (2017)

Murim Choi.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Murim Choi