Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
Moosa, S., Chung, B. H.-Y., Tung, J. Y.-L., Altmüller, J., Thiele, H., Nürnberg, P., Netzer, C., Nishimura, G., Wollnik, B.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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NSD1 mutations generate a genome-wide DNA methylation signature
Choufani, S., Cytrynbaum, C., Chung, B. H. Y., Turinsky, A. L., Grafodatskaya, D., Chen, Y. A., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M. T., Luk, H. M., Lo, I. F. M., Lam, S. T. S., Caluseriu, O., Stavropoulos, D. J., Reardon, W., Mendoza-Londono, R., Brudno, M., Gibson, W. T., Chitayat, D., Weksberg, R.
Published in Nature communications (22.12.2015)
Published in Nature communications (22.12.2015)
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Klebsiella Infection in Patients with Thalassemia
Chung, B. H. Y., Ha, S. Y., Chan, G. C. F., Chiang, A., Lee, T. L., Ho, H. K., Lee, C. Y., Luk, C. W., Lau, Y. L.
Published in Clinical infectious diseases (01.03.2003)
Published in Clinical infectious diseases (01.03.2003)
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Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging
Chung, H. Y. B., Uster‐Friedberg, T., Pentaz, S., Blaser, S., Murphy, K., Chitayat, D.
Published in Ultrasound in obstetrics & gynecology (01.10.2010)
Published in Ultrasound in obstetrics & gynecology (01.10.2010)
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Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcome
Chung, H. Y. B., Chu, L., Forrest, C., Silver, R., Toi, A., Blaser, S., Viero, S., Taylor, G., Chitayat, D.
Published in Ultrasound in obstetrics & gynecology (01.07.2010)
Published in Ultrasound in obstetrics & gynecology (01.07.2010)
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The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis
Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., Mone, F.
Published in Prenatal diagnosis (01.06.2024)
Published in Prenatal diagnosis (01.06.2024)
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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Chiu, A.T.G., Pei, S.L.C., Mak, C.C.Y., Leung, G.K.C., Yu, M.H.C., Lee, S.L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T.M.‐T., Nambot, S., Faivre, L., Bruel, A.‐L., Rossi, M., Isidor, B., Küry, S., Cogne, B., Besnard, T., Willems, M., Reijnders, M.R.F., Chung, B.H.Y.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
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Analytical validity and clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis: abridged secondary publication
Chung, B H Y, Kan, A S Y, Chan, K Y K, Yang, W, Tang, M H Y, Mak, C C Y, Leung, G K C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2022)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2022)
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Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA‐related overgrowth spectrum
Michel, M.E., Konczyk, D.J., Yeung, K.S., Murillo, R., Vivero, M.P., Hall, A.M., Zurakowski, D., Adams, D., Gupta, A., Huang, A.Y., Chung, B.H.Y., Warman, M.L.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review
Mone, F., Eberhardt, R. Y., Morris, R. K., Hurles, M. E., McMullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Giordano, J. L., Wapner, R. J., Kilby, M. D., Kan, A. S. Y., Chung, B. H. Y.
Published in Ultrasound in obstetrics & gynecology (01.01.2021)
Published in Ultrasound in obstetrics & gynecology (01.01.2021)
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report
Kong, C W, Li, Y Y, Au, S L K, Kan, A S Y, Chui, M M C, Chung, B H Y, Ho, Y C, To, W W K
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.08.2024)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.08.2024)
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Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report
Lam, H Y, Chan, E Y H, Tung, J Y L, Lee, S L K, Fung, J L F, Lee, M, Chung, B H Y, Ma, A L T
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2022)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2022)
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Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing
Yang, W L, Lau, Y L, Lee, P Pw, Chung, B Hy, Yang, J
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2018)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2018)
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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series
Leung, W Y, Luk, H M, Vardhanabhuti, V, Gao, Y, Hui, K F, Lau, W Y, Young, T P H, Li, J T C, Fung, E L W, Chiu, A T G, Lo, I F M, Chung, B H Y, Cheung, Y F, Chan, S H S
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2021)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2021)
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