RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
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
Published in American journal of human genetics (07.09.2017)
Published in American journal of human genetics (07.09.2017)
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Phase 3 Efficacy and Tolerability Study of OnabotulinumtoxinA for Urinary Incontinence From Neurogenic Detrusor Overactivity
Ginsberg, David, Gousse, Angelo, Keppenne, Veronique, Sievert, Karl-Dietrich, Thompson, Catherine, Lam, Wayne, Brin, Mitchell F, Jenkins, Brenda, Haag-Molkenteller, Cornelia
Published in The Journal of urology (01.06.2012)
Published in The Journal of urology (01.06.2012)
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
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
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability
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.
Published in Molecular genetics & genomic medicine (01.07.2016)
Published in Molecular genetics & genomic medicine (01.07.2016)
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Pathogenicity and selective constraint on variation near splice sites
Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
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A Novel Inspection Technique for Electronic Components Using Thermography (NITECT)
Liu, Haochen, Tinsley, Lawrence, Lam, Wayne, Addepalli, Sri, Liu, Xiaochen, Starr, Andrew, Zhao, Yifan
Published in Sensors (Basel, Switzerland) (03.09.2020)
Published in Sensors (Basel, Switzerland) (03.09.2020)
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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
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.
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Protocol of a randomised trial of teriparatide followed by zoledronic acid to reduce fracture risk in adults with osteogenesis imperfecta
Hald, Jannie D, Keerie, Catriona, Weir, Christopher J, Javaid, Muhammad K, Lam, Wayne, Osborne, Patricia, Walsh, Jennifer, Langdahl, Bente L, Ralston, Stuart H
Published in BMJ open (22.11.2023)
Published in BMJ open (22.11.2023)
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Redesigning Pharmacy to Improve Public Health Outcomes: Expanding Retail Spaces for Digital Therapeutics to Replace Consumer Products That Increase Mortality and Morbidity Risks
Bulaj, Grzegorz, Coleman, Melissa, Johansen, Blake, Kraft, Sarah, Lam, Wayne, Phillips, Katie, Rohaj, Aarushi
Published in Pharmacy (12.07.2024)
Published in Pharmacy (12.07.2024)
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis A.
Published in Genetics in medicine (01.12.2022)
Published in Genetics in medicine (01.12.2022)
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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An international consensus for mitigation of the detrimental effects of the COVID-19 pandemic on laparoscopic training
Yiasemidou, Marina, Howitt, Annabel, Long, Judith, Sedman, Peter, Garcia-Olmo, Damian, Guadalajara, Hector, Van Cleynenbreugel, Ben, Sharma, Dhananjaya, Biyani, Shekhar Chandra, Patel, Bijendra, Lam, Wayne, Harikrishnan, Athur, Gómez Rivas, Juan, Robinson, Jonathan, Manuel Ribeiro de Oliveira, Tiago, Escalona Vivas, Gabriel, Sanchez-Salas, Rafael, Tourinho-Barbosa, Rafael, Chetter, Ian
Published in PloS one (22.09.2022)
Published in PloS one (22.09.2022)
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Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations
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
Published in Diabetes (New York, N.Y.) (01.09.2003)
Published in Diabetes (New York, N.Y.) (01.09.2003)
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The Relationship of Pyroptosis-Related Genes, Patient Outcomes, and Tumor-Infiltrating Cells in Bladder Urothelial Carcinoma (BLCA)
Xie, Ruiyan, Xie, Ming, Zhu, Litong, Chiu, Joanne W. Y., Lam, Wayne, Yap, Desmond Y. H.
Published in Frontiers in pharmacology (19.07.2022)
Published in Frontiers in pharmacology (19.07.2022)
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Alternative HER/PTEN/Akt pathway activation in HPV positive and negative penile carcinomas
Stankiewicz, Elzbieta, Prowse, David M, Ng, Mansum, Cuzick, Jack, Mesher, David, Hiscock, Frances, Lu, Yong-Jie, Watkin, Nicholas, Corbishley, Catherine, Lam, Wayne, Berney, Daniel M
Published in PloS one (02.03.2011)
Published in PloS one (02.03.2011)
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Safety and Activity of Programmed Cell Death 1 Versus Programmed Cell Death Ligand 1 Inhibitors for Platinum-Resistant Urothelial Cancer: A Meta-Analysis of Published Clinical Trials
Li, Zaishang, Li, Xueying, Lam, Wayne, Cao, Yabing, Han, Hui, Zhang, Xueqi, Fang, Jiequn, Xiao, Kefeng, Zhou, Fangjian
Published in Frontiers in oncology (01.04.2021)
Published in Frontiers in oncology (01.04.2021)
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The Evidence for Fertility Preservation in Pediatric Klinefelter Syndrome
Pook, Celina J., Cocca, Alessandra, Grandone, Anna, Al-Hussini, Mohamed, Lam, Wayne
Published in Frontiers in reproductive health (03.08.2021)
Published in Frontiers in reproductive health (03.08.2021)
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