BRCA1 and BRCA2 tumor suppressors protect against endogenous acetaldehyde toxicity
Tacconi, Eliana MC, Lai, Xianning, Folio, Cecilia, Porru, Manuela, Zonderland, Gijs, Badie, Sophie, Michl, Johanna, Sechi, Irene, Rogier, Mélanie, Matía García, Verónica, Batra, Ankita Sati, Rueda, Oscar M, Bouwman, Peter, Jonkers, Jos, Ryan, Anderson, Reina‐San‐Martin, Bernardo, Hui, Joannie, Tang, Nelson, Bruna, Alejandra, Biroccio, Annamaria, Tarsounas, Madalena
Published in EMBO molecular medicine (01.10.2017)
Published in EMBO molecular medicine (01.10.2017)
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Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie
Published in Case reports in genetics (23.04.2022)
Published in Case reports in genetics (23.04.2022)
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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
van de Stadt, Stephanie I W, Mooyer, Petra A W, Dijkstra, Inge M E, Dekker, Conny J M, Vats, Divya, Vera, Moin, Ruzhnikov, Maura R Z, van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A, Hui, Joannie, Vaz, Frédéric M, Ebberink, Merel S, Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Published in Genes (30.11.2021)
Published in Genes (30.11.2021)
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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
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
Published in Human genomics (10.09.2020)
Published in Human genomics (10.09.2020)
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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Belaramani, Kiran Moti, Chan, Toby Chun Hei, Hau, Edgar Wai Lok, Yeung, Matthew Chun Wing, Kwok, Anne Mei Kwun, Lo, Ivan Fai Man, Law, Terry Hiu Fung, Wu, Helen, Wong, Sheila Suet Na, Lam, Shirley Wai, Ha, Gladys Ha Yin, Lau, Toby Pui Yee, Wong, Tsz Ki, Or, Venus Wai Ching, Wong, Rosanna Ming Sum, Ming, Wong Lap, Chow, Jasmine Chi Kwan, Yau, Eric Kin Cheong, Fu, Antony, Chong, Josephine Shuk Ching, Yau, Ho Chung, Poon, Grace Wing Kit, Ng, Kwok Leung, Chan, Kwong Tat, Lam, Yuen Yu, Hui, Joannie, Mak, Chloe Miu, Fung, Cheuk Wing
Published in International journal of neonatal screening (01.03.2024)
Published in International journal of neonatal screening (01.03.2024)
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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
Mak, Chloe Miu, Lam, Ching-Wan, Tam, Sidney, Lai, Ching-Lung, Chan, Lik-Yuen, Fan, Sheung-Tat, Lau, Yu-Lung, Lai, Jak-Yiu, Yuen, Patrick, Hui, Joannie, Fu, Chun-Cheung, Wong, Ka-Sing, Mak, Wing-Lai, Tze, Kong, Tong, Sui-Fan, Lau, Abby, Leung, Nancy, Hui, Aric, Cheung, Ka-Ming, Ko, Chun-Hung, Chan, Yiu-Ki, Ma, Oliver, Chau, Tai-Nin, Chiu, Alexander, Chan, Yan-Wo
Published in Journal of human genetics (01.01.2008)
Published in Journal of human genetics (01.01.2008)
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Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Hwu, Wuh-Liang, Okuyama, Torayuki, But, Wai Man, Estrada, Sylvia, Gu, Xuefan, Hui, Joannie, Kosuga, Motomichi, Lin, Shuan-Pei, Ngu, Lock-Hock, Shi, Huiping, Tanaka, Akemi, Thong, Meow-Keong, Wattanasirichaigoon, Duangrurdee, Wasant, Pornswan, McGill, Jim
Published in Molecular genetics and metabolism (01.09.2012)
Published in Molecular genetics and metabolism (01.09.2012)
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First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene
Fung, Eva Lai-wah, Ho, Yuan Yuan, Hui, Joannie, Wong, Jack Ho, Ng, Tzi-Bun, Fong, Nga-Yin Fion, Klepper, Joerg, Tsui, Kwok-Wing Stephen
Published in Brain & development (Tokyo. 1979) (01.02.2011)
Published in Brain & development (Tokyo. 1979) (01.02.2011)
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Galactorrhea—A strong clinical clue towards the diagnosis of neurotransmitter disease
Yeung, Wai Lan, Lam, Ching Wan, Hui, Joannie, Tong, Sui Fan, Wu, Shun Ping
Published in Brain & development (Tokyo. 1979) (01.07.2006)
Published in Brain & development (Tokyo. 1979) (01.07.2006)
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ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children
Ho, Assunta CH, Hui, Joannie, Chan, KH, Liu, KL, Ng, Bobby KW, Lo, Ivan FM, Lam, STS
Published in Pediatric Rheumatology (14.09.2011)
Published in Pediatric Rheumatology (14.09.2011)
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Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families
Tang, Nelson L.S., Hui, Joannie, Law, L.K., Lam, Y.Y., Chan, K.Y., Yeung, W.L., Chan, Albert Y.W., Cheung, K.L., Fok, T.F.
Published in Human mutation (01.11.2000)
Published in Human mutation (01.11.2000)
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Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
Mak, Chloe Miu, Lam, Ching-Wan, Tam, Sidney, Lai, Ching-Lung, Chan, Lik-Yuen, Fan, Sheung-Tat, Lau, Yu-Lung, Lai, Sik-To, Yuen, Patrick, Hui, Joannie, Fu, Chun-Cheung, Wong, Ka-Sing, Mak, Wing-Lai, Tze, Kong, Tong, Sui-Fan, Lau, Abby, Leung, Nancy, Hui, Aric, Cheung, Ka-Ming, Ko, Chun-Hung, Chan, Yiu-Ki, Ma, Oliver, Chau, Tai-Nin, Chiu, Alexander, Chan, Yan-Wo
Published in Journal of human genetics (01.04.2008)
Published in Journal of human genetics (01.04.2008)
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants
Hamilton, Eline M C, Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F, Wolf, Nicole I, Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo S
Published in Neurology (17.04.2018)
Published in Neurology (17.04.2018)
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Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
Horinishi, Asako, Okubo, Minoru, Tang, Nelson L S, Hui, Joannie, To, Ka-Fai, Mabuchi, Tomohito, Okada, Toshihide, Mabuchi, Hiroshi, Murase, Toshio
Published in Journal of human genetics (01.01.2002)
Published in Journal of human genetics (01.01.2002)
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Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson disease
Tang, Nelson Leung-sang, Hui, Joannie, Huang, Dan, Tang, Man Fung, Wang, Xingyan, Wu, Junyi, Chan, Iris H.S., Leung, Ting Fan
Published in Pathology (01.06.2020)
Published in Pathology (01.06.2020)
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Expanded newborn metabolic screening programme in Hong Kong: a three-year journey
Chong, S C, Law, L K, Hui, J, Lai, C Y, Leung, T Y, Yuen, Y P
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2017)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2017)
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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M. L., Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J. T., Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk‐Wing, Chung, Brian Hon-Yin
Published in Npj genomic medicine (05.08.2019)
Published in Npj genomic medicine (05.08.2019)
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