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Low-pass genome sequencing: a validated method in clinical cytogenetics.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
By:
- Chau, Matthew Hoi Kin;
- Wang, Huilin;
- Lai, Yunli;
- Zhang, Yanyan;
- Xu, Fuben;
- Tang, Yanqing;
- Wang, Yanfang;
- Chen, Zihan;
- Leung, Tak Yeung;
- Chung, Jacqueline Pui Wah;
- Kwok, Yvonne K.;
- Chong, Shuk Ching;
- Choy, Kwong Wai;
- Zhu, Yuanfang;
- Xiong, Likuan;
- Wei, Weihong;
- Dong, Zirui
Publication type:
Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
By:
- Chong, Shuk Ching;
- Cao, Ye;
- Fung, Eva L. W.;
- Kleppe, Soledad;
- Gripp, Karen W.;
- Hertecant, Jozef;
- El‐Hattab, Ayman W.;
- Suleiman, Jehan;
- Clark, Gary;
- von Allmen, Gretchen;
- Rodziyevska, Olga;
- Lewis, Richard A.;
- Rosenfeld, Jill A.;
- Dong, Jie;
- Wang, Xia;
- Miller, Marcus J.;
- Bi, Weimin;
- Liu, Pengfei;
- Scaglia, Fernando
Publication type:
Article
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.853918
By:
- Chong, Shuk Ching;
- Yuen, Yuet-Ping;
- Cao, Ye;
- Fan, Sze-Shing;
- Leung, Tak Yeung;
- Chan, Emily K. Y.;
- Zhu, Xian Lun
Publication type:
Article
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
By:
- Yu, Mullin Ho-Chung;
- Tsang, Mandy Ho-Yin;
- Lai, Sophie;
- Ho, Matthew Sai-Pong;
- Tse, Donald M. L.;
- Willis, Brooke;
- Kwong, Anna Ka-Yee;
- Chou, Yen-Yin;
- Lin, Shuan-Pei;
- Quinzii, Catarina M;
- Hwu, Wuh-Liang;
- Chien, Yin-Hsiu;
- Kuo, Pao-Lin;
- Chan, Victor Chi-Man;
- Tsoi, Cheung;
- Chong, Shuk-Ching;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Mak, Christopher Chun-Yu;
- Yeung, Kit-San
Publication type:
Article
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02632-6
By:
- Wong, Tsz-sum;
- Belaramani, Kiran M.;
- Chan, Chun-kong;
- Chan, Wing-ki;
- Chan, Wai-lun Larry;
- Chang, Shek-kwan;
- Cheung, Sing-ngai;
- Cheung, Ka-yin;
- Cheung, Yuk-fai;
- Chong, Shuk-ching Josephine;
- Chow, Chi-kwan Jasmine;
- Chung, Hon-yin Brian;
- Fan, Sin-ying Florence;
- Fok, Wai-ming Joshua;
- Fong, Ka-wing;
- Fung, Tsui-hang Sharon;
- Hui, Kwok-fai;
- Hui, Ting-hin;
- Hui, Joannie;
- Ko, Chun-hung
Publication type:
Article
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Published in:
Orphanet Journal of Rare Diseases, 2023, p. 1, doi. 10.1186/s13023-023-02632-6
By:
- Wong, Tsz-sum;
- Belaramani, Kiran M.;
- Chan, Chun-kong;
- Chan, Wing-ki;
- Chan, Wai-lun Larry;
- Chang, Shek-kwan;
- Cheung, Sing-ngai;
- Cheung, Ka-yin;
- Cheung, Yuk-fai;
- Chong, Shuk-ching Josephine;
- Chow, Chi-kwan Jasmine;
- Chung, Hon-yin Brian;
- Fan, Sin-ying Florence;
- Fok, Wai-ming Joshua;
- Fong, Ka-wing;
- Fung, Tsui-hang Sharon;
- Hui, Kwok-fai;
- Hui, Ting-hin;
- Hui, Joannie;
- Ko, Chun-hung
Publication type:
Article
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
Published in:
Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/4206348
By:
- Chong, Shuk Ching;
- Hon, Kam Lun;
- Scaglia, Fernando;
- Chow, Chung Mo;
- Fu, Yu Ming;
- Chiu, Tor Wo;
- Leung, Alexander K. C.
Publication type:
Article
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
Published in:
Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/4206348
By:
- Chong, Shuk Ching;
- Hon, Kam Lun;
- Scaglia, Fernando;
- Chow, Chung Mo;
- Fu, Yu Ming;
- WoChiu, Tor;
- Leung, Alexander K. C.
Publication type:
Article
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377
By:
- Yanyan Peng;
- Shinde, Deepali N.;
- Valencia, C. Alexander;
- Jun-Song Mo;
- Rosenfeld, Jill;
- Cho, Megan Truitt;
- Chamberlin, Adam;
- Zhuo Li;
- Jie Liu;
- Baoheng Gui;
- Brockhage, Rachel;
- Basinger, Alice;
- Alvarez-Leon, Brenda;
- Heydemann, Peter;
- Magoulas, Pilar L.;
- Lewis, Andrea M.;
- Scaglia, Fernando;
- Gril, Solange;
- Shuk Ching Chong;
- Bower, Matthew
Publication type:
Article
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 23, doi. 10.3390/ijns10010023
By:
- Belaramani, Kiran Moti;
- Chan, Toby Chun Hei;
- Hau, Edgar Wai Lok;
- Yeung, Matthew Chun Wing;
- Kwok, Anne Mei Kwun;
- Lo, Ivan Fai Man;
- Law, Terry Hiu Fung;
- Wu, Helen;
- Wong, Sheila Suet Na;
- Lam, Shirley Wai;
- Ha, Gladys Ha Yin;
- Lau, Toby Pui Yee;
- Wong, Tsz Ki;
- Or, Venus Wai Ching;
- Wong, Rosanna Ming Sum;
- Ming, Wong Lap;
- Chow, Jasmine Chi Kwan;
- Yau, Eric Kin Cheong;
- Fu, Antony;
- Chong, Josephine Shuk Ching
Publication type:
Article
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
Published in:
Genes, 2022, v. 13, n. 11, p. 2088, doi. 10.3390/genes13112088
By:
- 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
Publication type:
Article
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Published in:
Genes, 2021, v. 12, n. 4, p. 496, doi. 10.3390/genes12040496
By:
- Shi, Mengmeng;
- Liauw, Angeline Linna;
- Tong, Steve;
- Zheng, Yu;
- Leung, Tak Yeung;
- Chong, Shuk Ching;
- Cao, Ye;
- Lau, Tze Kin;
- Choy, Kwong Wai;
- Chung, Jacqueline P. W.
Publication type:
Article
Adverse Effects of Azathioprine in a Child and Her Mother with Eczema.
Published in:
2018
By:
- Hon, Kam Lun;
- Chang, Mimi;
- Chong, Shuk Ching;
- Yuen, Yuet Ping;
- Tsui, Stephen Kwok Wing
Publication type:
Case Study

Found: 13