KBG syndrome in a Chinese population: A case series
Ho, Stephanie, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review
Ho, Stephanie, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations
Yu, Pui Tak, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Journal Article
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman
Yu, Pui Tak, Luk, Ho‐ming, Mok, Myth T, Lo, FM Ivan
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature
Cheng, Shirley S. W., Chan, Pui Kwan Joyce, Luk, Ho‐Ming, Mok, Myth Tsz‐Shun, Lo, Ivan F. M.
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
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
Cheng, Shirley S. W., Luk, Ho‐Ming, Mok, Myth Tsz‐Shun, Leung, Sha‐Sha, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Cheng, Shirley S. W., Chan, Kelvin Y. K., Leung, Kelphen K. P., Au, Patrick K. C., Tam, Wai‐Keung, Li, Samuel K. M., Luk, Ho‐Ming, Kan, Anita S. Y., Chung, Brian H. Y., Lo, Ivan F. M., Tang, Mary H. Y.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Journal Article
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series
Ho, Stephanie, Tsang, Mandy Ho‐Yin, Fung, Jasmine Lee‐Fong, Huang, Haibo, Chow, Chun‐Bong, Cheng, Shirley Sze‐Wing, Luk, Ho‐Ming, Chung, Brian Hon‐Yin, Lo, Ivan Fai‐Man
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
Rare SUZ12 variants commonly cause an overgrowth phenotype
Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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Journal Article
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications
Yu, Pui‐Tak, Shu, Wendy, Mok, Sau‐Lan, Hui, Pui‐Wah, Chan, Lin‐Wai, Kwok, Ka‐Yin, Chan, Kelvin Y. K., Lo, Tsz‐Kin, Chung, Brian H. Y., Luk, Ho‐Ming, Kan, Anita S. Y.
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Journal Article
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers
Ho, Stephanie K. L., Ng, Samuel Y. L., Yung, Tsz‐Kwai, Mok, Myth T. S., Yiu, Wing‐Chung, Cheng, Heidi H. Y., Cheng, Shirley S. W., Luk, Ho‐ming, Lo, Ivan F. M., Kan, Anita S. Y.
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
CHARGE syndrome in nine patients from China
Cheng, Shirley S. W., Luk, Ho‐Ming, Chan, David K. H., Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Burkardt, Deepika D'Cunha, Zachariou, Anna, Loveday, Chey, Allen, Clare L., Amor, David J., Ardissone, Anna, Banka, Siddharth, Bourgois, Alexia, Coubes, Christine, Cytrynbaum, Cheryl, Faivre, Laurence, Marion, Gerard, Horton, Rachel, Kotzot, Dieter, Lay‐Son, Guillermo, Lees, Melissa, Low, Karen, Luk, Ho‐Ming, Mark, Paul, McConkie‐Rosell, Allyn, McDonald, Marie, Pappas, John, Phillipe, Christophe, Shears, Deborah, Skotko, Brian, Stewart, Fiona, Stewart, Helen, Temple, I Karen, Mau‐Them, Frederic T., Verdugo, Ricardo A., Weksberg, Rosanna, Zarate, Yuri A., Graham, John M., Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Coffin–Lowry syndrome in Chinese
Fung, Jasmine L. F., Rethanavelu, Kavitha, Luk, Ho‐ming, Ho, Matthew S. P., Lo, Ivan F. M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
Yu, Kris P. T., Luk, Ho‐Ming, Leung, Gordon K. C., Mak, Christopher C. Y., Cheng, Shirley S. W., Hau, Edgar W. L., Chan, David K. H., Lam, Stephen T. S., Tong, Tony M. F., Chung, Brian H. Y., Lo, Ivan F. M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Journal Article
ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell
Leung, Amy Wing-Sze, Leung, Henry Chi-Ming, Wong, Chak-Lim, Zheng, Zhen-Xian, Lui, Wui-Wang, Luk, Ho-Ming, Lo, Ivan Fai-Man, Luo, Ruibang, Lam, Tak-Wah
Published in BMC medical genomics (04.03.2022)
Published in BMC medical genomics (04.03.2022)
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Journal Article
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis
Luk, Ho-Ming, Ivan Lo, Fai-Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article