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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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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Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen von Lascaratos, Gerassimos, MRCSEd(Ophth), MSc(Oxon), Lam, Wayne W., MD, FRCP, Newman, William D., FRCS(Glasg), FRCOphth, MacRae, Mary, FRCOphth

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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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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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Regulatory de novo mutations underlying intellectual disability von De Vas, Matias G, Boulet, Fanny, Joshi, Shweta S, Garstang, Myles G, Khan, Tahir N, Atla, Goutham, Parry, David, Moore, David, Cebola, Inês, Zhang, Shuchen, Cui, Wei, Lampe, Anne K, Lam, Wayne W, Ferrer, Jorge, Pradeepa, Madapura M, Atanur, Santosh S

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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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Regulatory de novo mutations underlying intellectual disability von Vas, Matías G. de, Boulet, Fanny, Joshi, Shweta S, Garstang, Myles G, Khan, Tahir N, Atla, Goutham, Parry, David, Moore, David, Cebola, Inês, Zhang, Shuchen, Cui, Wei, 1970, Lampe, Anne K, Lam, Wayne W, Genomics England Research Consortium, Ferrer, Jorge, Pradeepa, Madapura M, Atanur, Santosh S

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Millimeter-wave diode-grid phase shifters von Lam, W.W., Jou, C.F., Chen, H.Z., Stolt, K.S., Luhmann, N.C., Rutledge, D.B.

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Millimeter-wave diode-grid frequency doubler von Jou, C.F., Lam, W.W., Chen, H.Z., Stolt, K.S., Luhmann, N.C., Rutledge, D.B.

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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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Active patch antenna transmitter von NGAN, YIU C, SAITO, YOSHIO, LAM, WAYNE W

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Focal plane imaging array with internal calibration source von BERENZ, JOHN J, PEARLMAN, JAY S, LAM, WAYNE W, LEE, PAUL S. C, CHOW, PEI-MING D

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Management of Primary Symptomatic Lymphocele After Kidney Transplantation: A Systematic Review von LUCEWICZ, Ania, WONG, Germaine, LAM, Vincent W. T, HAWTHORNE, Wayne J, ALLEN, Richard D. M, CRAIG, Jonathan C, PLEASS, Henry C. C

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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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