Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

por Leonidou, Andreas, Irving, Melita, Holden, Simon, Katchburian, Marcos
Publicado 2016

Laparoscopic Distal Pancreatectomy for Lymphoepithelial Cyst of the Pancreas

por Au-Yong, Iain T. H., Wemyss-Holden, Simon, Lloyd, David M.
Publicado 2004

Advances in the genetics of schizophrenia: will high-risk copy number variants be useful in clinical genetics or diagnostics?

por Collier, David A, Vassos, Evangelos, Holden, Simon, Patch, Christine, McGuire, Philip, Lewis, Cathryn
Publicado 2009

Biomimetic Transparent Eye Protection Inspired by the Carapace of an Ostracod (Crustacea)

por Parker, Andrew R., Palka, Barbara P., Albon, Julie, Meek, Keith M., Holden, Simon, Malik, F. Tegwen
Publicado 2021

Lactobacillus reuteri Inhibition of Enteropathogenic Escherichia coli Adherence to Human Intestinal Epithelium

por Walsham, Alistair D. S., MacKenzie, Donald A., Cook, Vivienne, Wemyss-Holden, Simon, Hews, Claire L., Juge, Nathalie, Schüller, Stephanie
Publicado 2016

Attaching and effacing (A/E) lesion formation by enteropathogenic E. coli on human intestinal mucosa is dependent on non-LEE effectors

por Cepeda-Molero, Massiel, Berger, Cedric N., Walsham, Alistair D. S., Ellis, Samuel J., Wemyss-Holden, Simon, Schüller, Stephanie, Frankel, Gad, Fernández, Luis Ángel
Publicado 2017

The ultrastructural development and 3D reconstruction of the transparent carapace of the ostracod Skogsbergia lerneri

por Rumney, Benjamin M., Malik, F. Tegwen, Morgan, Siân R., Parker, Andrew R., Holden, Simon, Albon, Julie, Lewis, Philip N., Meek, Keith M.
Publicado 2022

Establishment of long-term ostracod epidermal culture

por Morgan, Siân R., Paletto, Laura, Rumney, Benjamin, Malik, Farhana T., White, Nick, Lewis, Philip N., Parker, Andrew R., Holden, Simon, Meek, Keith M., Albon, Julie
Publicado 2020

Combining clinical, radiological and genetic approaches to pneumothorax management

por Grimes, Hannah L, Holden, Simon, Babar, Judith, Karia, Sumit, Wetscherek, Maria TA, Barker, Allanah, Herre, Jurgen, Knolle, Martin D, Maher, Eamonn R, Marciniak, Stefan John
Publicado 2022

Characterisation of carapace composition in developing and adult ostracods (Skogsbergia lerneri) and its potential for biomaterials

por Rumney, Benjamin M., Morgan, Siân R., Mosselmans, J. Frederick W., Malik, F. Tegwen, Holden, Simon J., Parker, Andrew R., White, Nick, Lewis, Philip N., Albon, Julie, Meek, Keith M.
Publicado 2022

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

por Reid, Emma S., Williams, Hywel, Anderson, Glenn, Benatti, Malika, Chong, Kling, James, Chela, Ocaka, Louise, Hemingway, Cheryl, Little, Daniel, Brown, Richard, Parker, Alasdair, Holden, Simon, Footitt, Emma, Rahman, Shamima, Gissen, Paul, Mills, Philippa B., Clayton, Peter T.
Publicado 2017

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

por Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2021

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

por Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R
Publicado 2019

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

por Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M., Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L., Chung, Wendy K., Berger, Rolf M. F., Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M. A., Kerstjens-Frederikse, Wilhelmina, Kiely, David G., Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J., Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A. A. Roger, Wharton, John, Wort, Stephen J., Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M., Martin, Jennifer M., Li, Wei, Swift, Andrew J., Upton, Paul D., Morrell, Nicholas W., Gräf, Stefan, Valverde, Diana
Publicado 2022

Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

por Swietlik, Emilia M., Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Welch, Carrie C.L., Pauciulo, Michael W., Southgate, Laura, Martin, Jennifer M., Treacy, Carmen M., Penkett, Christopher J., Stephens, Jonathan C., Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Coleman, Anna W., Condliffe, Robin, Eichstaedt, Christina A., Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Grünig, Ekkehard, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Vonk Noordegraaf, Anton, Wharton, John, Wild, James M., Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R., Trembath, Richard C., Shen, Yufeng, Chung, Wendy K., Swift, Andrew J., Nichols, William C., Morrell, Nicholas W., Gräf, Stefan
Publicado 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

por Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Publicado 2018

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado 2014