Хайлтын үр дүнгүүд - Mullin H.C. Yu

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  1. 1
    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis -н Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu, Christopher Chun Yu Mak, Vivian Chin Chin Hui, Mandy Ho Yin Tsang, Kit San Yeung, Monkol Lek, Brian Hon‐Yin Chung

    Хэвлэсэн 2020
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    Artigo
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  2. 2
    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) -н Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Wilfred Hing Sang Wong, Mandy Ho Yin Tsang, Mullin H.C. Yu, Steven Lim Cho Pei, Kit San Yeung, Gary Mok, C P Lee, Pui Wah Hui, Mary H.Y. Tang, Kelvin Y.K. Chan, Anthony P. Y. Liu, Wanling Yang, Pak C. Sham, Anita Sik Yau Kan, Brian Hon‐Yin Chung

    Хэвлэсэн 2018
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    Artigo
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  3. 3
    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese -н Mullin H.C. Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-pong Ho, Donald Tse, Brooke Willis, Anna Ka‐Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M. Quinzii, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Pao‐Lin Kuo, C. Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J. Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni‐Chung Lee, Cheuk‐Wing Fung, Brian Hon‐Yin Chung

    Хэвлэсэн 2019
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    Artigo
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  4. 4
    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs -н Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Steven Lim Cho Pei, Mullin H.C. Yu, Vivian Chin Chin Hui, Joshua Chun Ki Chan, Jeffrey Fong Ting Chau, Marcus C.Y. Chan, Mandy Ho‐Yin Tsang, Wilfred Hing Sang Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel Siu Chun Wong, Rosanna Wong, YL Lau, Gcf Chan, So Lun Lee, Kit San Yeung, Brian Hon‐Yin Chung

    Хэвлэсэн 2020
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    Artigo
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  5. 5
    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism -н Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Lambertus Klei, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Alfredo Brusco, Brian Hon‐Yin Chung, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girard, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Evelise Riberi, Rebecca J. Schmidt, Moyra Smith, Claudia I.C. Souza, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan Sanders, Michael E. Talkowski

    Хэвлэсэн 2021
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    Pré-impressão
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  6. 6
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis -н Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Хэвлэсэн 2019
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    Artigo
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  7. 7
    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism -н Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon‐Yin Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Simona Cardaropoli, Diana Carli, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia Ismania Samogy Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, Branko Aleksić, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Ángel Carracedo, Andreas G. Chiocchetti, Hilary Coon, Ryan N. Doan, Montserrat Fernández Prieto, Christine M. Freitag, Sherif Gerges, Stephen J. Guter, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Matthew W. Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W. Scherer, Sabine Schlitt

    Хэвлэсэн 2022
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    Revisão
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