Diffusion-Weighted MR Imaging in Neonatal Nonketotic Hyperglycinemia

Yazar: Khong, Pek-Lan, Lam, Barbara C. C., Chung, Brian H. Y., Wong, Ka-Yin, Ooi, Gaik-Cheng
Yayımlandı AJNR Am J Neuroradiol (2003)

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

Yazar: Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.
Yayımlandı J Med Genet (2015)

A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency

Yazar: Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing
Yayımlandı JIMD Rep (2019)

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS)

Yazar: Michel, Megan E., Konczyk, Dennis J., Yeung, Kit San, Murillo, Rudy, Vivero, Matthew P., Hall, Amber M., Zurakowski, David, Adams, Denise, Gupta, Anita, Huang, August Y., Chung, Brian H.Y., Warman, Matthew L.
Yayımlandı Clin Genet (2018)

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Yazar: 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.
Yayımlandı Hum Mutat (2015)

Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

Yazar: Kan, Anita S. Y., Lau, Elizabeth T., Tang, W. F., Chan, Sario S. Y., Ding, Simon C. K., Chan, Kelvin Y. K., Lee, C. P., Hui, Pui Wah, Chung, Brian H. Y., Leung, K. Y., Ma, Teresa, Leung, Wing C., Tang, Mary H. Y.
Baskı/Yayın Bilgisi 2014

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Yazar: Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Monkol, Chung, Brian H. Y.
Yayımlandı NPJ Genom Med (2020)

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong

Yazar: Tao, Victoria Q., Chan, Kelvin Y. K., Chu, Yoyo W. Y., Mok, Gary T. K., Tan, Tiong Y., Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W. Y., Lau, Elizabeth T., Kan, Anita S. Y., Tang, Mary H., Lau, Yu-lung, Chung, Brian H. Y.
Baskı/Yayın Bilgisi 2014

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

Yazar: Mak, Christopher C Y, Chow, Pak Cheong, Liu, Anthony P Y, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Leung, Gordon K C, Yeung, Kit San, Chau, Adolphus K T, Lowther, Chelsea, Scherer, Stephen W, Marshall, Christian R, Bassett, Anne S, Chung, Brian H Y
Yayımlandı NPJ Genom Med (2016)

OMIC-07. FEASIBILITY AND UTILITY OF EPIGENOMIC PROFILING FOR CHILDHOOD CNS TUMORS IN HONG KONG

Yazar: P.Y. Liu, Anthony, Ho, Ronnie S L, Li, Kay K W, Chan, Shing, Ku, Dennis T L, Fu, Eric, Luk, Chung-Wing, Yau, Jeffrey P W, Ling, Siu-Cheung, Chung, Brian H Y, Yang, Wanling, Kan, Amanda, Shing, Matthew M K, Ng, Ho-Keung, Chan, Godfrey C F
Yayımlandı Neuro Oncol (2021)

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

Yazar: Tsang, Mandy H. Y., Chiu, Annie T. G., Kwong, Bernard M. H., Liang, Rui, Yu, Mullin H. C., Yeung, Kit‐San, Ho, Wetor H. L., Mak, Christopher C. Y., Leung, Gordon K. C., Pei, Steven L. C., Fung, Jasmine L. F., Wong, Virginia C. N., Muntoni, Francesco, Chung, Brian H. Y., Chan, Sophelia H. S.
Yayımlandı Mol Genet Genomic Med (2020)

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Yazar: 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.
Yayımlandı Sci Rep (2018)

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Yazar: Leung, Gordon K C, Mak, Christopher C Y, Fung, Jasmine L F, Wong, Wilfred H S, Tsang, Mandy H Y, Yu, Mullin H C, Pei, Steven L C, Yeung, K S, Mok, Gary T K, Lee, C P, Hui, Amelia P W, Tang, Mary H Y, Chan, Kelvin Y K, Liu, Anthony P Y, Yang, Wanling, Sham, P C, Kan, Anita S Y, Chung, Brian H Y
Yayımlandı BMC Med Genomics (2018)

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Yazar: Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.
Yayımlandı Mol Genet Genomic Med (2020)

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Yazar: Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun
Yayımlandı Mol Genet Genomic Med (2016)

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Yazar: Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing
Yayımlandı Hum Genomics (2020)

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Yazar: Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.
Yayımlandı Lancet Reg Health West Pac (2020)

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Yazar: Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna
Yayımlandı Am J Hum Genet (2020)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Yazar: Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Yayımlandı Am J Hum Genet (2017)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Yazar: Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Yayımlandı Am J Hum Genet (2020)