Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability von Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes von Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth

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Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies von Bakrania, Preeti, Ugur Iseri, Sibel A., Wyatt, Alexander W., Bunyan, Dave J., Lam, Wayne W.K., Salt, Alison, Ramsay, Jacqueline, Robinson, David O., Ragge, Nicola K.

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Uptake of testing for BRCA1 2 mutations in South East Scotland von HOLLOWAY, Susan M, BERNHARD, Birgitta, CAMPBELL, Harry, LAM, Wayne W. K

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Inequality of use of Cancer Genetics Services by members of breast, ovarian and colorectal cancer families in South East Scotland von Holloway, Susan M., Bernhard, Birgitta, Campbell, Harry, Cetnarskyj, Roseanne, Lam, Wayne W. K.

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum von BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen

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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data von Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J., Dean, John, Giuffrida, Maria G., Bernardini, Laura, Varghese, Vinod, Shannon, Nora L., Harrison, Rachel E., Lam, Wayne W. K., McKee, Shane, Turnpenny, Peter D., Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C., Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A., Chung, Wendy K., Scott, Daryl A.

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Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations von GLOYN, Anna L, NOORDAM, Kees, MATSCHINSKY, Franz M, HATTERSLEY, Andrew T, WILLEMSEN, Michèl A. A. P, ELLARD, Sian, LAM, Wayne W. K, CAMPBELL, Ian W, MIDGLEY, Paula, SHIOTA, Chyio, BUETTGER, Carol, MAGNUSON, Mark A

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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation von Lam, Wayne W K, Hatada, Izuho, Ohishi, Sachiko, Mukai, Tsunehiro, Joyce, Johanna A, Cole, Trevor R P, Donnai, Dian, Reik, Wolf, Schofield, Paul N, Maher, Eamonn R

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Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18 von Lam, Wayne W.K., Kirk, J., Manning, N., Reardon, W., Kelley, R.I., FitzPatrick, D.

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Comparison between empirical prokinetics, Helicobacter test-and-treat and empirical endoscopy in primary-care patients presenting with dyspepsia： A one-year study von Hu, Wayne H C, Lam, S K, Lam, Cindy L K, Wong, W M, Lam, K F, Lai, K C, Wong, Y H, Wong, Benjamin C Y, Chan, Annie O O, Chan, C K, Leung, Gabriel M, Hui, W M

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Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls von Zhu, Zezhang, Tang, Nelson Leung-Sang, Xu, Leilei, Qin, Xiaodong, Mao, Saihu, Song, Yueming, Liu, Limin, Li, Fangcai, Liu, Peng, Yi, Long, Chang, Jiang, Jiang, Long, Ng, Bobby Kin-Wah, Shi, Benlong, Zhang, Wen, Qiao, Jun, Sun, Xu, Qiu, Xusheng, Wang, Zhou, Wang, Fei, Xie, Dingding, Chen, Ling, Chen, Zhonghui, Jin, Mengran, Han, Xiao, Hu, Zongshan, Zhang, Zhen, Liu, Zhen, Zhu, Feng, Qian, Bang-ping, Yu, Yang, Wang, Bing, Lee, K. M., Lee, Wayne Y.W., Lam, T. P., Qiu, Yong, Cheng, Jack Chun-Yiu

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The effect of aging on nasal mucociliary clearance, beat frequency, and ultrastructure of respiratory cilia von HO, James C, CHAN, Kwok N, HU, Wayne H, LAM, Wah K, LING ZHENG, TIPOE, George L, JUNE SUN, LEUNG, Raymond, TSANG, Kenneth W

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First Case of 2019 Novel Coronavirus in the United States von Holshue, Michelle L, DeBolt, Chas, Lindquist, Scott, Lofy, Kathy H, Wiesman, John, Bruce, Hollianne, Spitters, Christopher, Ericson, Keith, Wilkerson, Sara, Tural, Ahmet, Diaz, George, Cohn, Amanda, Fox, LeAnne, Patel, Anita, Gerber, Susan I, Kim, Lindsay, Tong, Suxiang, Lu, Xiaoyan, Lindstrom, Steve, Pallansch, Mark A, Weldon, William C, Biggs, Holly M, Uyeki, Timothy M, Pillai, Satish K

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Lansoprazole for the Prevention of Recurrences of Ulcer Complications from Long-Term Low-Dose Aspirin Use von Lai, Kam Chuen, Lai, Ching Lung, Lam, Shiu Kum, Chu, Kent Man, Wong, Benjamin C.Y, Wong, John, Wong, Wai Man, Hui, Wai Mo, Hu, Wayne H.C, Lau, George K.K, Yuen, Man Fung, Chan, Annie O.O

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ABT-199, a potent and selective BCL-2 inhibitor, achieves antitumor activity while sparing platelets von Souers, Andrew J, Leverson, Joel D, Boghaert, Erwin R, Ackler, Scott L, Catron, Nathaniel D, Chen, Jun, Dayton, Brian D, Ding, Hong, Enschede, Sari H, Fairbrother, Wayne J, Huang, David C S, Hymowitz, Sarah G, Jin, Sha, Khaw, Seong Lin, Kovar, Peter J, Lam, Lloyd T, Lee, Jackie, Maecker, Heather L, Marsh, Kennan C, Mason, Kylie D, Mitten, Michael J, Nimmer, Paul M, Oleksijew, Anatol, Park, Chang H, Park, Cheol-Min, Phillips, Darren C, Roberts, Andrew W, Sampath, Deepak, Seymour, John F, Smith, Morey L, Sullivan, Gerard M, Tahir, Stephen K, Tse, Chris, Wendt, Michael D, Xiao, Yu, Xue, John C, Zhang, Haichao, Humerickhouse, Rod A, Rosenberg, Saul H, Elmore, Steven W

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Recommendations for the management of advanced and metastatic renal cell carcinoma: joint consensus statements from the Hong Kong Urological Association and the Hong Kong Society o... von Poon, D M C, Chan, C K, Chan, K, Chu, W H, Kwong, P W K, Lam, W, Law, K S, Lee, E K C, Liu, P L, Sze, H C K, Wong, J H M, Chan, E S Y

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Adaptive Routing in Network-on-Chips Using a Dynamic-Programming Network von Mak, T., Cheung, P. Y. K., Kai-Pui Lam, Luk, W.

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Helicobacter pylori Eradication to Prevent Gastric Cancer in a High-Risk Region of China: A Randomized Controlled Trial von Wong, Benjamin Chun-Yu, Lam, Shiu Kum, Wong, Wai Man, Chen, Jian Shun, Zheng, Ting Ting, Feng, Rui E, Lai, Kam Chuen, Hu, Wayne Hsing Cheng, Yuen, Siu Tsan, Leung, Suet Yi, Fong, Daniel Yee Tak, Ho, Joanna, Ching, Chi Kong, Chen, Jun Shi, for the China Gastric Cancer Study Group

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Aberrant miR‐145–5p/β‐catenin signal impairs osteocyte function in adolescent idiopathic scoliosis von Zhang, Jiajun, Chen, Huanxiong, Leung, Ross K. K., Choy, Kwong Wai, Lam, Tsz‐Ping, Ng, Bobby K. W., Qiu, Yong, Feng, Jian Q., Cheng, Jack C. Y., Lee, Wayne Y. W.

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