Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell
Leung, Henry C. M., Yu, Huijing, Zhang, Yifan, Leung, Wing Sze, Lo, Ivan F. M., Luk, Ho Ming, Law, Wai-Chun, Ma, Ka Kui, Wong, Chak Lim, Wong, Yat Sing, Luo, Ruibang, Lam, Tak-Wah
Published in Scientific reports (16.03.2022)
Published in Scientific reports (16.03.2022)
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Journal Article
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Leung, Gordon K. C., Luk, H. M., Tang, Vincent H. M., Gao, W. W., Mak, Christopher C. Y., Yu, Mullin H. C., Wong, W. L., Chu, Yoyo W. Y., Yang, W. L., Wong, Wilfred H. S., Ma, Alvin C. H., Leung, Anskar Y. H., Jin, D. Y., Chan, Kelvin Y. K., Allanson, Judith, Lo, Ivan F. M., Chung, Brian H. Y.
Published in Scientific reports (05.02.2018)
Published in Scientific reports (05.02.2018)
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Journal Article
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome
Willis, Brooke R., Lee, Mianne, Rethanavelu, Kavitha, Fung, Jasmine L. F., Wong, Rosanna M. S., Hui, Peter, Yeung, Kit S., Lo, Ivan F. M., Chung, Brian H. Y.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.
Published in Human mutation (01.02.2016)
Published in Human mutation (01.02.2016)
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Journal Article
Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug
Ling, Janet, Yeung, Wai Lan, Hon, Kam Lun, Lo, Ivan F. M., Luk, Ho-Ming, Fung, Cheuk Wing, Leung, Alexander K. C.
Published in Case reports in pediatrics (2022)
Published in Case reports in pediatrics (2022)
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Journal Article
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
Botzenhart, Elke M., Green, Andrew, Ilyina, Helena, König, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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Journal Article
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
Molecular autopsy in Chinese sudden cardiac death in the young
Kwok, Sit‐Yee, Ho, Stephanie, Shih, Fong‐Ying, Yeung, Pak‐Kwan, Cheng, Shirley S. W., Poon, Wai‐Ming, Lo, Ivan F. M., Luk, Ho‐Ming
Published in American journal of medical genetics. Part A (01.11.2024)
Published in American journal of medical genetics. Part A (01.11.2024)
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Journal Article
A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies
Chung, Brian H.Y., Luk, Ho-ming, Lo, Ivan F.M., Lam, Stephen T.S., Li, Raymond H.W.
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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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
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
Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation
Yeung, KS, Chee, YY, Luk, HM, Kan, Anita SY, Tang, Mary HY, Lau, Elizabeth T, Shuen, Andrew Y, Lo, Ivan FM, Chan, Kelvin YK, Chung, Brian HY
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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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
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Karolak, Justyna A., Liu, Qian, Xie, Nina G., Wu, Lucia R., Rocha, Gustavo, Fernandes, Susana, Ho-Ming, Luk, Lo, Ivan F., Mowat, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Witte, David, Parrott, Ashley, Popek, Edwina, Szafranski, Przemyslaw, Zhang, David Y., Stankiewicz, Pawel
Published in The Journal of molecular diagnostics : JMD (01.04.2020)
Published in The Journal of molecular diagnostics : JMD (01.04.2020)
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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