Výsledky vyhledávání - Sylvia Kam

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  1. 1
    Phenotypic Distinctions Between <i>EYS</i>- and <i>USH2A</i>-Associated Retinitis Pigmentosa in an Asian Population

    Phenotypic Distinctions Between <i>EYS</i>- and <i>USH2A</i>-Associated Retinitis Pigmentosa in an Asian Population Autor Erik Yeo, Taro Kominami, Tien‐En Tan, L. D. Dhinesh Babu, Ken K. Ong, Weilun Tan, Yasmin Bylstra, Kanika Jain, Rachael W. C. Tang, Saadia Farooqui, Sylvia Kam, Cordelia Chan, Ranjana S. Mathur, Saumya S. Jamuar, Weng Khong Lim, Koji M. Nishiguchi, Beau J. Fenner

    Vydáno 2025
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    Artigo
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  2. 2
    Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort

    Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort Autor Jane A. Lieviant, Choi Mun Chan, Yasmin Bylstra, Kanika Jain, Jing Xian Teo, Wan Wan Lim, Sylvia Kam, Tiffany N. Chao, N. Siew, Sonia Dávila, Eranga N. Vithana, Ranjana Mathur, Tien‐En Tan, Patrick Tan, Saumya S. Jamuar, Beau J. Fenner, Weng Khong Lim

    Vydáno 2025
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    Artigo
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  3. 3
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2024
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  4. 4
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2025
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  5. 5
    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Autor Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen B. Avraham, Neha Bhatia, Donglin Bai, Nicole J. Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, Jasmine Goh, John H. Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey T. Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un‐Kyung Kim, Hannie Kremer, Ian D. Krantz, Suzanne M. Leal, Morag A. Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Ming, Miguel A. Moreno‐Pelayo, Matías Morin, Cynthia C. Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J. Smith, Lynette Pei‐Chi Shek, Funda Suer, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang

    Vydáno 2019
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  6. 6
    Analysis of clinically relevant variants from ancestrally diverse Asian genomes

    Analysis of clinically relevant variants from ancestrally diverse Asian genomes Autor Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo, Jyn Ling Kuan, Nicolas Bertin, Mar González-Porta, Maxime Hebrard, Roberto Tirado-Magallanes, Joanna Tan, Justin Jeyakani, Zhihui Li, Jin Fang Chai, Yap Seng Chong, Sonia Dávila, Liuh Ling Goh, Eng Sing Lee, Eleanor Wong, Tien Yin Wong, Tin Aung, Kenneth Ban, Claire Bellis, Miao Li Chee, Miao Ling Chee, Wen Jie Chew, Calvin Chin, Stuart A. Cook, Rinkoo Dalan, Rajkumar Dorajoo, Chester L. Drum, Paul Elliott, Johan G. Eriksson, Roger Foo, Daphne Gardner, Peter D. Gluckman, Denise Li Meng Goh, Kanika Jain, Sylvia Kam, Irfahan Kassam, Lakshmi Narayanan Lakshmanan, Caroline Lee, Jimmy Lee, Soo Chin Lee, Yung Seng Lee, Hengtong Li, Chia Wei Lim, Tock Han Lim, Marie Loh, Sebastian Maurer‐Stroh, Theresia Mina, Shi Qi Mok, Hong Kiat Ng, Chee Jian Pua, Elio Ríboli, Tyler Hyungtaek Rim, Charumathi Sabanayagam, Wey Cheng Sim, Tavintharan Subramaniam, Ee Shien Tan, Eng King Tan, Erwin Tantoso, Darwin Tay, Yik Ying Teo, Yih‐Chung Tham, Li-xian Grace Toh, Pi Kuang Tsai, Rob M. van Dam, Lavanya Veeravalli, Gervais Wansaicheong Khin-lin, Andreas Wilm, Chengxi Yang, Fabian Yap, Yik Weng Yew, Shyam Prabhakar, Jianjun Liu, Ching‐Yu Cheng, Birgit Eisenhaber, Neerja Karnani, Khai Pang Leong, Xueling Sim, Khung Keong Yeo, John C. Chambers, E Shyong Tai, Patrick Tan, Saumya Shekhar Jamuar, Joanne Ngeow, Weng Khong Lim

    Vydáno 2022
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