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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Author / Creator:Shen, Jun ; Oza, Andrea M. ; del Castillo, Ignacio ; Duzkale, Hatice ; Matsunaga, Tatsuo ; Pandya, Arti ; Kang, Hyunseok P. ; Mar-Heyming, Rebecca ; Guha, Saurav ; Moyer, Krista ; Lo, Christine ; Kenna, Margaret ; Alexander, John J. ; Zhang, Yan ; Hirsch, Yoel ; Luo, Minjie ; Cao, Ye ; Wai Choy, Kwong ; Cheng, Yen-Fu ; Avraham, Karen B. ; Hu, Xinhua ; Garrido, Gema ; Moreno-Pelayo, Miguel A. ; Greinwald, John ; Zhang, Kejian ; Zeng, Yukun ; Brownstein, Zippora ; Basel-Salmon, Lina ; Davidov, Bella ; Frydman, Moshe ; Weiden, Tzvi ; Nagan, Narasimhan ; Willis, Alecia ; Hemphill, Sarah E. ; Grant, Andrew R. ; Siegert, Rebecca K. ; DiStefano, Marina T. ; Amr, Sami S. ; Rehm, Heidi L. ; Abou Tayoun, Ahmad N.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-11, Vol.21 (11), p.2442-2452
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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
Author / Creator:Dong, Zirui ; Zhang, Jun ; Hu, Ping ; Chen, Haixiao ; Xu, Jinjin ; Tian, Qi ; Meng, Lu ; Ye, Yanchou ; Wang, Jun ; Zhang, Meiyan ; Li, Yun ; Wang, Huilin ; Yu, Shanshan ; Chen, Fang ; Xie, Jiansheng ; Jiang, Hui ; Wang, Wei ; Choy, Kwong Wai ; Xu, Zhengfeng
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2016-09, Vol.18 (9), p.940-948
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A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM)
Author / Creator:Yeung, Queenie S. Y. ; Zhang, Ying Xin ; Chung, Jacqueline P. W. ; Lui, Wai Ting ; Kwok, Yvonne K. Y. ; Gui, Baoheng ; Kong, Grace W. S. ; Cao, Ye ; Li, Tin Chiu ; Choy, Kwong Wai
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2019-08, Vol.36 (8), p.1609-1621
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Contributions of common genetic variants to specific languages and to when a language is learned
Author / Creator:Wong, Patrick C. M. ; Kang, Xin ; So, Hon-Cheong ; Choy, Kwong Wai
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-01, Vol.12 (1), p.580-580, Article 580
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MicroRNA-183 suppresses cancer stem-like cell properties in EBV-associated nasopharyngeal carcinoma
Author / Creator:Cheung, Chartia Ching-Mei ; Lun, Samantha Wei-Man ; Chung, Grace Tin-Yun ; Chow, Chit ; Lo, Carman ; Choy, Kwong-Wai ; Lo, Kwok-Wai
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2016-07, Vol.16 (1), p.495-495, Article 495
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Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing
Author / Creator:Chau, Matthew ; Li, Ying ; Dai, Peng ; Shi, Mengmeng ; Zhu, Xiaofan ; Wah Chung, Jacqueline ; Kwok, Yvonne ; Choy, Kwong ; Kong, Xiangdong ; Dong, Zirui
Publisher:China: Wolters Kluwer India Pvt. Ltd
Journal title:Asian journal of andrology, 2022-05, Vol.24 (3), p.248-254
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Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models
Author / Creator:Cheung, Stanley K. K. ; Kwok, Jacinda ; Or, Penelope M. Y. ; Wong, Chi Wai ; Feng, Bo ; Choy, Kwong Wai ; Chang, Raymond C. C. ; Burbach, J. Peter H. ; Cheng, Alfred S. L. ; Chan, Andrew M.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-04, Vol.13 (1), p.6763-6763, Article 6763
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CD44+ cancer stem-like cells in EBV-associated nasopharyngeal carcinoma
Author / Creator:Lun, Samantha Wei-Man ; Cheung, Siu Tim ; Cheung, Phyllis Fung Yi ; To, Ka-Fai ; Woo, John Kong-Sang ; Choy, Kwong-Wai ; Chow, Chit ; Cheung, Chartia Ching-Mei ; Chung, Grace Tin-Yun ; Cheng, Alice Suk-Hang ; Ko, Chun-Wai ; Tsao, Sai-Wah ; Busson, Pierre ; Ng, Margaret Heung-Ling ; Lo, Kwok-Wai
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-12, Vol.7 (12), p.e52426
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Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis
Author / Creator:Brown, Kim H ; Dobrinski, Kimberly P ; Lee, Arthur S ; Gokcumen, Omer ; Mills, Ryan E ; Shi, Xinghua ; Chong, Wilson W. S ; Chen, Jin Yun Helen ; Yoo, Paulo ; David, Sthuthi ; Peterson, Samuel M ; Raj, Towfique ; Choy, Kwong Wai ; Stranger, Barbara E ; Williamson, Robin E ; Zon, Leonard I ; Freeman, Jennifer L ; Lee, Charles
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-01, Vol.109 (2), p.529-534
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PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing
Author / Creator:Li, Xuchao ; Chen, Shengpei ; Xie, Weiwei ; Vogel, Ida ; Choy, Kwong Wai ; Chen, Fang ; Christensen, Rikke ; Zhang, Chunlei ; Ge, Huijuan ; Jiang, Haojun ; Yu, Chang ; Huang, Fang ; Wang, Wei ; Jiang, Hui ; Zhang, Xiuqing
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-01, Vol.9 (1), p.e85096-e85096
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A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children
Author / Creator:Lin, Yu-Ping ; Shi, Yujia ; Zhang, Ruoyu ; Xue, Xiao ; Rao, Shitao ; Yin, Liangying ; Lui, Kelvin Fai Hong ; PAN, Dora Jue ; Maurer, Urs ; Choy, Kwong-Wai ; Paracchini, Silvia ; McBride, Catherine ; So, Hon-Cheong
Publisher:London: Nature Publishing Group UK
Journal title:NPJ science of learning, 2024-03, Vol.9 (1), p.26-26, Article 26
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miR-31 is consistently inactivated in EBV-associated nasopharyngeal carcinoma and contributes to its tumorigenesis
Author / Creator:Cheung, Chartia Ching-Mei ; Chung, Grace Tin-Yun ; Lun, Samantha Wei-Man ; To, Ka-Fai ; Choy, Kwong-Wai ; Lau, Kin-Mang ; Siu, Sharie Pui-Kei ; Guan, Xin-Yuan ; Ngan, Roger Kai-Cheong ; Yip, Timothy Tak-Chun ; Busson, Pierre ; Tsao, Sai-Wah ; Lo, Kwok-Wai
Publisher:England: BioMed Central Ltd
Journal title:Molecular cancer, 2014-08, Vol.13 (1), p.184-184, Article 184
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Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample
Author / Creator:Zheng, Mo ; McBride, Catherine ; Ho, Connie Suk-Han ; Chan, Jonathan Ka-Chun ; Choy, Kwong Wai ; Paracchini, Silvia
Publisher:England: BioMed Central Ltd
Journal title:BMC Psychology, 2020-04, Vol.8 (1), p.37-37, Article 37
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A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid
Author / Creator:Cheng, Man Hei ; Tam, Chung Nga ; Choy, Kwong Wai ; Tsang, Wai Hung ; Tsang, Sze Lan ; Pang, Chi Pui ; Song, You Qiang ; Sham, Mai Har
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-08, Vol.11 (8), p.e0160691-e0160691
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The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing
Author / Creator:Mitchell, Calli O. ; Rivera-Cruz, Greysha ; Chau, Matthew Hoi Kin ; Dong, Zirui ; Choy, Kwong Wai ; Shen, Jun ; Amr, Sami ; Giersch, Anne B. S. ; Morton, Cynthia C.
Publisher:Basel: MDPI AG
Journal title:International journal of neonatal screening, 2022-05, Vol.8 (2), p.36
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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
Author / Creator:Ng, Vivian Kwun Sin ; Lau, Tze Kin ; Kan, Anita Sik Yau ; Chung, Brian Hon Yin ; Luk, Ho Ming ; Ng, Wai Fu ; Shi, Mengmeng ; Choy, Kwong Wai ; Cao, Ye ; Leung, Wing Cheong
Publisher:Basel: MDPI AG
Journal title:Diagnostics (Basel), 2021-09, Vol.11 (9), p.1576
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Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease
Author / Creator:Shi, Mengmeng ; Leng, Xinyi ; Li, Ying ; Chen, Zihan ; Cao, Ye ; Chung, Tiffany ; Ip, Bonaventure YM ; Ip, Vincent HL ; Soo, Yannie OY ; Fan, Florence SY ; Ma, Sze Ho ; Ma, Karen ; Chan, Anne Y Y ; Au, Lisa WC ; Leung, Howan ; Lau, Alexander Y ; Mok, Vincent CT ; Choy, Kwong Wai ; Dong, Zirui ; Leung, Thomas W
Publisher:London: BMJ Publishing Group Ltd
Journal title:Stroke and vascular neurology, 2022-06, Vol.7 (3), p.182-189
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Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing
Author / Creator:Dan, Shan ; Chen, Fang ; Choy, Kwong Wai ; Jiang, Fuman ; Lin, Jingrong ; Xuan, Zhaoling ; Wang, Wei ; Chen, Shengpei ; Li, Xuchao ; Jiang, Hui ; Leung, Tak Yeung ; Lau, Tze Kin ; Su, Yue ; Zhang, Weiyuan ; Zhang, Xiuqing
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-02, Vol.7 (2), p.e27835-e27835
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Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting
Author / Creator:Kwan, Angel H. W ; Zhu, Xiaofan ; Mar Gil, Maria ; Kwok, Yvonne K. Y ; Wah, Isabella Y. M ; Hui, Annie S. Y ; Ting, Yuen-Ha ; Law, Kwok-Ming ; Lau, Doris ; Xue, Shuwen ; Choy, Kwong-Wai ; Sahota, Daljit ; Leung, Tak-Yeung ; Poon, Liona C
Publisher:Basel: MDPI AG
Journal title:Diagnostics (Basel), 2022-10, Vol.12 (10), p.2439
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Innate Immune Response by Ficolin Binding in Apoptotic Placenta Is Associated with the Clinical Syndrome of Preeclampsia
Author / Creator:Wang, Chi Chiu ; Yim, Ka Wing ; Poon, Terence C.W ; Choy, Kwong Wai ; Chu, Ching Yan ; Lui, Wai Ting ; Lau, Tze Kin ; Rogers, Michael S ; Leung, Tse Ngong
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2007-01, Vol.53 (1), p.42-52
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Showing 1 to 20 of 68 results

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

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A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM)

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Contributions of common genetic variants to specific languages and to when a language is learned

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MicroRNA-183 suppresses cancer stem-like cell properties in EBV-associated nasopharyngeal carcinoma

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Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing

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Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models

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CD44+ cancer stem-like cells in EBV-associated nasopharyngeal carcinoma

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Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis

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PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing

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A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children

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miR-31 is consistently inactivated in EBV-associated nasopharyngeal carcinoma and contributes to its tumorigenesis

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Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample

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A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid

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The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing

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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

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Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease

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Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing

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Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting

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Innate Immune Response by Ficolin Binding in Apoptotic Placenta Is Associated with the Clinical Syndrome of Preeclampsia

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