Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa von Wang, Jing, Zhang, Victor W, Feng, Yanming, Tian, Xia, Li, Fang-Yuan, Truong, Cavatina, Wang, Guoli, Chiang, Pei-Wen, Lewis, Richard A, Wong, Lee-Jun C

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Novel SPEG variant cause centronuclear myopathy in China von Tang, Jia, Ma, Wei, Chen, Yangran, Jiang, Runze, Zeng, Qinlong, Tan, Jieliang, Jiang, Hongqing, Li, Qing, Zhang, Victor W., Wang, Jing, Tang, Hui, Luo, Liangping

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Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia von Wang, Zhangyang, Lin, Jie, Qiao, Kai, Cai, Shuang, Zhang, Victor W., Zhao, Chongbo, Lu, Jiahong

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Clinical and laboratory interpretation of mitochondrial mRNA variants von Wong, Lee‐Jun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Tang, Sha, Landsverk, Megan, Li, Fangyuan, Zhang, Shulin, Wang, Yue, Zhang, Victor W., Craigen, William J.

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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting von Ye, Zimeng, Lin, Sufang, Zhao, Xia, Bennett, Mark F., Brown, Natasha J., Wallis, Mathew, Gao, Xinyi, Sun, Li, Wu, Jiarui, Vedururu, Ravikiran, Witkowski, Tom, Gardiner, Fiona, Stutterd, Chloe, Duan, Jing, Mullen, Saul A., McGillivray, George, Bodek, Simon, Valente, Giulia, Reagan, Matthew, Yao, Yi, Li, Lin, Chen, Li, Boys, Amber, Adikari, Thiuni N., Cao, Dezhi, Hu, Zhanqi, Beshay, Victoria, Zhang, Victor W., Berkovic, Samuel F., Scheffer, Ingrid E., Liao, Jianxiang, Hildebrand, Michael S.

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Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis von Ye, Zimeng, Lin, Sufang, Zhao, Xia, Wallis, Mathew, Gao, Xinyi, Sun, Li, Wu, Jiarui, Duan, Jing, Yao, Yi, Li, Lin, Chen, Li, Cao, Dezhi, Hu, Zhanqi, Zhang, Victor W, Berkovic, Samuel F, Scheffer, Ingrid E, Liao, Jianxiang, Hildebrand, Michael S

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation von Jones, Melanie A, Bhide, Shruti, Chin, Ephrem, Ng, Bobby G, Rhodenizer, Devin, Zhang, Victor W, Sun, Jessica J, Tanner, Alice, Freeze, Hudson H, Hegde, Madhuri R

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Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism von Pupavac, Mihaela, Tian, Xia, Chu, Jordan, Wang, Guoli, Feng, Yanming, Chen, Stella, Fenter, Remington, Zhang, Victor W., Wang, Jing, Watkins, David, Wong, Lee-Jun, Rosenblatt, David S.

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Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing von Li, Jianli, Tang, Jia, Feng, Yanming, Xu, Mingchu, Chen, Rui, Zou, Xuan, Sui, Ruifang, Chang, Emmanuel Y, Lewis, Richard A, Zhang, Victor W, Wang, Jing, Wong, Lee-Jun C

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Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations von Chu, Jordan, Pupavac, Mihaela, Watkins, David, Tian, Xia, Feng, Yanming, Chen, Stella, Fenter, Remington, Zhang, Victor W., Wang, Jing, Wong, Lee-Jun, Rosenblatt, David S.

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Diagnostic approaches to apparent homozygosity von Landsverk, Megan L., Douglas, Ganka V., Tang, Sha, Zhang, Victor W., Wang, Guo-Li, Wang, Jing, Wong, Lee-Jun C.

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Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene von Massie, Rami, Wang, Jing, Chen, Li-Chieh, Zhang, Victor W, Collins, Michael P, Wong, Lee-Jun C, Milone, Margherita

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes von Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N, Slavin, Thomas P, Lee, Sansan, Magoulas, Pilar L, Lewis, Andrea M, Emrick, Lisa, Lalani, Seema R, Niu, Zhiyv, Landsverk, Megan L, Walkiewicz, Magdalena, Person, Richard E, Mei, Hui, Rosenfeld, Jill A, Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders von Stray-Pedersen, Asbjørg, MD, PhD, Sorte, Hanne Sørmo, MS, Samarakoon, Pubudu, MS, Gambin, Tomasz, PhD, Chinn, Ivan K., MD, Coban Akdemir, Zeynep H., PhD, Erichsen, Hans Christian, MD, PhD, Forbes, Lisa R., MD, Gu, Shen, PhD, Yuan, Bo, PhD, Jhangiani, Shalini N., MS, Muzny, Donna M., MS, Rødningen, Olaug Kristin, PhD, Sheng, Ying, PhD, Nicholas, Sarah K., MD, PhD, Noroski, Lenora M., MD, MPH, Seeborg, Filiz O., MD, MPH, Davis, Carla M., MD, Canter, Debra L., MS, Mace, Emily M., PhD, Vece, Timothy J., MD, Allen, Carl E., MD, PhD, Abhyankar, Harshal A., MS, Boone, Philip M., MD, PhD, Beck, Christine R., PhD, Wiszniewski, Wojciech, MD, PhD, Fevang, Børre, MD, PhD, Aukrust, Pål, MD, PhD, Tjønnfjord, Geir E., MD, PhD, Gedde-Dahl, Tobias, MD, PhD, Hjorth-Hansen, Henrik, MD, PhD, Dybedal, Ingunn, MD, PhD, Nordøy, Ingvild, MD, PhD, Jørgensen, Silje F., MD, Abrahamsen, Tore G., MD, PhD, Øverland, Torstein, MD, Bechensteen, Anne Grete, MD, PhD, Skogen, Vegard, MD, PhD, Osnes, Liv T.N., MD, PhD, Kulseth, Mari Ann, PhD, Prescott, Trine E., MD, Rustad, Cecilie F., MD, Heimdal, Ketil R., MD, PhD, Belmont, John W., MD, PhD, Rider, Nicholas L., DO, Chinen, Javier, MD, PhD, Cao, Tram N., MS, Smith, Eric A., BSc, Caldirola, Maria Soledad, BSc, Bezrodnik, Liliana, MD, Lugo Reyes, Saul Oswaldo, MD, Espinosa Rosales, Francisco J., MD, Guerrero-Cursaru, Nina Denisse, BSc, Pedroza, Luis Alberto, PhD, Poli, Cecilia M., MD, Franco, Jose L., MD, PhD, Trujillo Vargas, Claudia M., PhD, Aldave Becerra, Juan Carlos, MD, Wright, Nicola, MD, Issekutz, Thomas B., MD, Issekutz, Andrew C., MD, Abbott, Jordan, MD, Caldwell, Jason W., DO, Bayer, Diana K., DO, Chan, Alice Y., MD, PhD, Aiuti, Alessandro, MD, PhD, Cancrini, Caterina, MD, PhD, Holmberg, Eva, MD, West, Christina, MD, PhD, Burstedt, Magnus, MD, PhD, Karaca, Ender, MD, Yesil, Gözde, MD, Artac, Hasibe, MD, Bayram, Yavuz, MD, Atik, Mehmed Musa, BSc, Eldomery, Mohammad K., MD, Ehlayel, Mohammad S., MD, PhD, Jolles, Stephen, MD, PhD, Flatø, Berit, MD, PhD, Bertuch, Alison A., MD, PhD, Hanson, I. Celine, MD, Zhang, Victor W., PhD, Wong, Lee-Jun, PhD, Hu, Jianhong, PhD, Walkiewicz, Magdalena, PhD, Yang, Yaping, PhD, Eng, Christine M., MD, Boerwinkle, Eric, PhD, Gibbs, Richard A., PhD, Shearer, William T., MD, PhD, Lyle, Robert, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (Hon)

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Corrigendum to “Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.” [Mol. Genet. M... von Chu, Jordan, Pupavac, Mihaela, Watkins, David, Tian, Xia, Feng, Yanming, Chen, Stella, Fenter, Remington, Zhang, Victor W, Wang, Jing, Wong, Lee-Jun, Rosenblatt, David S

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Molecular defects in mitochondrial protein translation machinery von Wang, Jing, Pan, Shujuan, Li, Jianli, Wang, Guoli, Schmitt, Eric S., Peacock, Sandra, Craigen, William, Zhang, Victor W., Wong, Lee-Jun C.

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Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG) von Jones, Melanie A., Bhide, Shruti, Chin, Ephrem, Ng, Bobby G., Rhodenizer, Devin, Zhang, Victor W., Sun, Jessica J., Tanner, Alice, Freeze, Hudson H., Hegde, Madhuri R.

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Artificial intelligence-driven radiomics study in cancer: the role of feature engineering and modeling von Zhang, Yuan-Peng, Zhang, Xin-Yun, Cheng, Yu-Ting, Li, Bing, Teng, Xin-Zhi, Zhang, Jiang, Lam, Saikit, Zhou, Ta, Ma, Zong-Rui, Sheng, Jia-Bao, Tam, Victor C W, Lee, Shara W Y, Ge, Hong, Cai, Jing

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Defining super-enhancer landscape in triple-negative breast cancer by multiomic profiling von Huang, Hao, Hu, Jianyang, Maryam, Alishba, Huang, Qinghua, Zhang, Yuchen, Ramakrishnan, Saravanan, Li, Jingyu, Ma, Haiying, Ma, Victor W. S., Cheuk, Wah, So, Grace Y. K., Wang, Wei, Cho, William C. S., Zhang, Liang, Chan, Kui Ming, Wang, Xin, Chin, Y. Rebecca

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Direct and indirect photodegradation pathways of cytostatic drugs under UV germicidal irradiation: Process kinetics and influences of water matrix species and oxidant dosing von Zhang, Yiqing, Zhang, Jiefeng, Xiao, Yongjun, Chang, Victor W.C., Lim, Teik-Thye

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