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

Por 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.
Publicado no J Med Genet (2015)

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

Por 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.
Publicado no Hum Mutat (2015)

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

Por 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.
Publicado em 2014

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

Por 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.
Publicado em 2014

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

Por 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
Publicado no Mol Genet Genomic Med (2016)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Por 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.
Publicado no Am J Hum Genet (2017)

22q11.2 Deletion Syndrome in Diverse Populations

Por Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H.Y., Mok, Gary T.K., Mak, Christopher CY, Muthukumarasamy, Premala, Thong, Meow-Keong, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Prabodha, L.B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann-Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul-Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri-Costa, Antonio, Gil-da-Silva-Lopes, Vera L, Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald-McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian
Publicado no Am J Med Genet A (2017)