Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Pagnamenta, Alistair T., Jackson, Adam, Perveen, Rahat, Beaman, Glenda, Petts, Gemma, Gupta, Asheeta, Hyder, Zerin, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau, Cheung, Ka Wang, Kerstjens‐Frederikse, Wilhelmina S., Abbott, Kristin M., Elpeleg, Orly, Taylor, Jenny C., Banka, Siddharth, Ta‐Shma, Asaf
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Journal Article
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Seto, Mimi Tin‐Yan, Bertoli‐Avella, Aida M., Cheung, Ka Wang, Chan, Kelvin Yuen‐Kwong, Yeung, Kit San, Fung, Jasmine Lee‐Fong, Beetz, Christian, Bauer, Peter, Luk, Ho Ming, Lo, Ivan Fai‐Man, Lee, Chin Peng, Chung, Brian Hon‐Yin, Kan, Anita Sik‐Yau
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong
So, Po Lam, Cheng, Kwun Yue Yvonne, Cheuk, Kwan Yiu, Chiu, Wan Kam, Mak, Shui Lam, Mok, Sau Lan, Lo, Tsz Kin, Yung, Wai Kuen, Lo, Fai Man, Chung, Hon Yin Brian, Kan, Sik Yau Anita, Lee, Chin Peng, Tang, Hoi Yin Mary
Published in The journal of obstetrics and gynaecology research (01.12.2017)
Published in The journal of obstetrics and gynaecology research (01.12.2017)
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Journal Article
Expanded Carrier Screening in Chinese Population - A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women
Cheng, Hiu Yee Heidi, Wong, Grace Ching Yin, Chan, Yuen-Kwong Kelvin, Lee, Chin Peng, Tang, Mary Hoi Yin, Ng, Ernest Hung-Yu, Kan, Anita Sik-Yau
Published in Frontiers in genetics (16.11.2020)
Published in Frontiers in genetics (16.11.2020)
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Journal Article
Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results
Lo, Tsz-Kin, Chan, Kelvin Yuen-Kwong, Kan, Anita Sik-Yau, So, Po-Lam, Kong, Choi-Wah, Mak, Shui-Lam, Lee, Chung-Nin
Published in The journal of maternal-fetal & neonatal medicine (17.01.2019)
Published in The journal of maternal-fetal & neonatal medicine (17.01.2019)
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Journal Article
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy
Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin
Published in Epilepsia open (01.03.2019)
Published in Epilepsia open (01.03.2019)
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Journal Article
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
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
Published in Diagnostics (Basel) (01.09.2021)
Published in Diagnostics (Basel) (01.09.2021)
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Journal Article
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory
Lai, Theodora Hei Tung, Au, Leung Kuen Sandy, Lau, Yuen Ting Eunice, Lo, Hei Man, Chan, Kelvin Yuen Kwong, Cheung, Ka Wang, Ma, Teresa Wei Ling, Leung, Wing Cheong, Kong, Choi Wah, Shu, Wendy, So, Po Lam, Kwong, Anna Ka Yee, Mak, Christopher Chun Yu, Lee, Mianne, Chui, Martin Man Chun, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Healthcare (Basel) (01.12.2022)
Published in Healthcare (Basel) (01.12.2022)
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Journal Article
Study of the extent of information desired by women undergoing non‐invasive prenatal testing following positive prenatal Down‐syndrome screening test results
Lo, Tsz‐Kin, Chan, Kelvin Yuen‐Kwong, Kan, Anita Sik‐Yau, So, Po‐Lam, Kong, Choi‐Wah, Mak, Shui‐Lam, Lee, Chung‐Nin
Published in International journal of gynecology and obstetrics (01.06.2017)
Published in International journal of gynecology and obstetrics (01.06.2017)
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Journal Article
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Chau, Jeffrey Fong Ting, Yu, Mullin Ho Chung, Chui, Martin Man Chun, Yeung, Cyrus Chun Wing, Kwok, Aaron Wing Cheung, Zhuang, Xuehan, Lee, Ryan, Fung, Jasmine Lee Fong, Lee, Mianne, Mak, Christopher Chun Yu, Ng, Nicole Ying Ting, Chung, Claudia Ching Yan, Chan, Marcus Chun Yin, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Chan, Kelvin Yuen Kwong, Kan, Anita Sik Yau, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Yeung, Kit San, Chung, Brian Hon Yin, Tang, Clara Sze Man
Published in Npj genomic medicine (21.03.2022)
Published in Npj genomic medicine (21.03.2022)
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Journal Article
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin
Kan, Anita Sik Yau, Lau, Elizabeth Tak Kwong, So, Chun Hong, Chan, Wan Pang, Wong, Wing Cheuk, Lee, Kam Cheong, Pertile, Mark D., Tang, Mary Hoi Yin
Published in The journal of obstetrics and gynaecology research (01.05.2018)
Published in The journal of obstetrics and gynaecology research (01.05.2018)
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Journal Article
Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis
Lin, Sheng Mou, Luk, Ho Ming, Lo, Ivan Fai Man, Tam, Wai‐Keung, Chan, Kelvin Yuen Kwong, Tse, Hei‐Yee, Leung, Wing Cheong, Tang, Mary Hoi Yin, Kan, Anita Sik Yau
Published in Clinical case reports (01.08.2020)
Published in Clinical case reports (01.08.2020)
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Journal Article
Pregnancy-associated plasma protein A for prediction of fetal growth restriction
Lo, Tsz-kin, Chan, Kelvin Yuen-kwong, Chan, Sario Sau-yuk, Kan, Anita Sik-yau, Hui, Amelia Pui-wah, Tang, Mary Hoi-yin
Published in International journal of gynecology and obstetrics (01.08.2015)
Published in International journal of gynecology and obstetrics (01.08.2015)
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Journal Article
The Osteoporosis Society of Hong Kong (OSHK): 2013 OSHK guideline for clinical management of postmenopausal osteoporosis in Hong Kong
Ip, Tai-Pang, Cheung, Shing-Kee William, Cheung, Tak-Cheong, Choi, Tak-Cheong, Chow, Siu-Lun Eddie, Ho, Yiu-Yan Andrew, Kan, Sik-Yau Anita, Kung, Wai-Chee Annie, Lee, Ka-Kui, Leung, Ka-Li Frankie, Leung, Yin-Yan Jenny, Lo, Seen-Tsing Sue, Sy, Chung-Tai, Wong, Yat-Wa
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.04.2013)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.04.2013)
Journal Article
Genetic Counseling/Consultation in South-East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics
Zayts, Olga, Sarangi, Srikant, Thong, Meow-Keong, Chung, Brian Hon-yin, Lo, Ivan Fao-man, Kan, Anita Sik-yau, Lee, Juliana Mei-Har, Padilla, Carmencita David, Cutiongco-de la Paz, Eva Maria, Faradz, Sultana M. H., Wasant, Pornswan
Published in Journal of genetic counseling (01.12.2013)
Published in Journal of genetic counseling (01.12.2013)
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Journal Article
Conference Proceeding
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
Hui, Pui Wah, Mok, Yin Kwan, Luk, Ho Ming, Au, Sandy Leung Kuen, Lau, Eunice Yuen Ting, Chung, Brian, Kan, Anita Sik Yau
Published in Prenatal diagnosis (01.09.2023)
Published in Prenatal diagnosis (01.09.2023)
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Journal Article
Antenatal counselling of congenital surgical anomalies: A decade of experience in a local tertiary centre
Fung, Adrian Chi Heng, Kan, Anita Sik Yau, Chung, Patrick HY, Shek, Noel Wing Man, Chan, Ivy Hau Yee, Wong, Kenneth Kak Yuen
Published in Journal of paediatrics and child health (01.05.2021)
Published in Journal of paediatrics and child health (01.05.2021)
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Journal Article
A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening
Cheung, Ka Wang, Lai, Carman Wing Sze, Mak, Christopher Chun Yu, Hui, Pui Wah, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Published in Prenatal diagnosis (01.04.2018)
Published in Prenatal diagnosis (01.04.2018)
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Journal Article
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies
So, Po Lam, Hui, Annie Shuk Yi, Ma, Teresa Wei Ling, Shu, Wendy, Hui, Amelia Pui Wah, Kong, Choi Wah, Lo, Tsz Kin, Kan, Amanda Nim Chi, Kan, Elaine Yee Ling, Chong, Shuk Ching, Chung, Brian Hon Yin, Luk, Ho Ming, Choy, Kwong Wai, Kan, Anita Sik Yau, Leung, Wing Cheong
Published in Genes (01.11.2022)
Published in Genes (01.11.2022)
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