検索結果 - Sangmoon Lee

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  1. 1
    Closing in on Mechanisms of Open Neural Tube Defects

    Closing in on Mechanisms of Open Neural Tube Defects 著者: Sangmoon Lee, Joseph G. Gleeson

    出版事項 2020
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    Revisão
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  2. 2
    A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

    A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology 著者: Lu Wang, David Sievert, Alex E. Clark, Sangmoon Lee, Hannah G. Federman, Benjamin D. Gastfriend, Eric V. Shusta, Sean P. Palecek, Aaron F. Carlin, Joseph G. Gleeson

    出版事項 2021
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    Artigo
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  3. 3
    Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

    Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population 著者: Sangmoon Lee, Jihae Seo, Jinman Park, Jae‐Yong Nam, Ahyoung Choi, Jason S. Ignatius, Robert Bjornson, Jong‐Hee Chae, In‐Jin Jang, Sanghyuk Lee, Woong‐Yang Park, Daehyun Baek, Murim Choi

    出版事項 2017
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    Artigo
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  4. 4
    Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4

    Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4 著者: Sangmoon Lee, Jin Soo Moon, Chorong Lee, Hye‐Eun Kim, Sun-Mi Baek, Solha Hwang, Gyeong Hoon Kang, Jeong Kee Seo, Choong Ho Shin, Hyoung Jin Kang, Jae Sung Ko, Sung‐Gyoo Park, Murim Choi

    出版事項 2015
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    Carta
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  5. 5
    The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy

    The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy 著者: Seung Seok Han, Seung Hee Yang, Murim Choi, Hang‐Rae Kim, Kwangsoo Kim, Sangmoon Lee, Kyung Chul Moon, Joo Young Kim, Hajeong Lee, Jung Pyo Lee, Ji Yong Jung, Sejoong Kim, Kwon Wook Joo, Chun Soo Lim, Shin‐Wook Kang, Yon Su Kim, Dong Ki Kim

    出版事項 2016
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    Artigo
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  6. 6
    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 著者: Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson

    出版事項 2020
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    Artigo
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  7. 7
    The contribution of de novo coding mutations to meningomyelocele

    The contribution of de novo coding mutations to meningomyelocele 著者: Yoo-Jin Ha, Isaac Tang, Ashna Nisal, Ishani Jhamb, Cassidy Wallace, Sarah Schroeder, Chanjae Lee, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Francisco A. Blanco, Seyoung Yu, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Rony Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Ji Eun Lee, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Sangwoo Kim, Joseph G. Gleeson

    出版事項 2024
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    Pré-impressão
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  8. 8
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder 著者: Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María 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 S. Zaki, Jan Senderek, Udai Bhan Pandey

    出版事項 2021
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    Artigo
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  9. 9
    Clinical application of whole-genome sequencing of solid tumors for precision oncology

    Clinical application of whole-genome sequencing of solid tumors for precision oncology 著者: Ryul Kim, Seokhwi Kim, Brian Baek-Lok Oh, Woo Sik Yu, Chang Woo Kim, Hoon Hur, Sang‐Yong Son, Min Jae Yang, Dae Sung Cho, Taeyang Ha, Subin Heo, Jeon Yeob Jang, Jae Sung Yun, Kyu‐Sung Kwack, Bohyun Kim, Jimi Huh, Sun Gyo Lim, Sang‐Uk Han, Hyun Woo Lee, Ji Eun Park, Chul‐Ho Kim, Jin Roh, Young Wha Koh, Dakeun Lee, Jang‐Hee Kim, Gil Ho Lee, Choong‐Kyun Noh, Yun Jung Jung, Ji Won Park, Seung Soo Sheen, Mi Sun Ahn, Yong Won Choi, Tae‐Hwan Kim, Seok Yun Kang, Jin-Hyuk Choi, Soo Yeon Baek, Kee Myung Lee, Sun Il Kim, Sung Hyun Noh, Se-Hyuk Kim, Hyemin Hwang, Eunjung Joo, S.J. Lee, Jong-Yeon Shin, Ji-Young Yun, Jung-Gil Park, Kijong Yi, Youngoh Kwon, Wonchul Lee, Hansol Park, Joonoh Lim, Boram Yi, Jaemo Koo, June‐Young Koh, Sangmoon Lee, Yu-Na Lee, Bo-Rahm Lee, Erin Connolly-Strong, Young Seok Ju, Minsuk Kwon

    出版事項 2024
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    Artigo
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  10. 10
    The contribution of de novo coding mutations to meningomyelocele

    The contribution of de novo coding mutations to meningomyelocele 著者: Yoo-Jin Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Linda R. Friedman, Francisco A. Blanco, Seyoung Yu, Sue Goo Rhee, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal S. Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Maliha Khara, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I. Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Libin Xu, Ji Eun Lee, Dong Hyuk Shin, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Allison E. Ashley‐Koch, Hal S. Meltzer, Joan T. Le, Kit Sing Au, Philip J. Lupo, Camila Araújo, Tony Magana, Caroline M. Kolvenbach, Shirlee Shril, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H. Westley Phillips, Brian W. Hanak, Bülent Kara, Ayfer Sakarya Güneş, David Gonda, Salman Kirmani, Tinatin Tkemaladze, Sangwoo Kim, Joseph G. Gleeson

    出版事項 2025
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    Artigo
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  11. 11
    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language 著者: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, A. Micheil Innes, Ping Yee Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth Newbury‐Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, E Blair, Moira Blyth

    出版事項 2018
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    Artigo
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