Xenopus oocytes reactivate muscle gene transcription in transplanted somatic nuclei independently of myogenic factors

由 Biddle, Adrian, Simeoni, Ilenia, Gurdon, J. B.
出版 2009

Widespread Transcription in an Amphibian Oocyte Relates to Its Reprogramming Activity on Transplanted Somatic Nuclei

由 Simeoni, Ilenia, Gilchrist, Mike J., Garrett, Nigel, Armisen, Javier, Gurdon, John B.
出版 2012

Imperatoxin a enhances Ca(2+) release in developing skeletal muscle containing ryanodine receptor type 3.

由 Nabhani, Thomas, Zhu, Xinsheng, Simeoni, Ilenia, Sorrentino, Vincenzo, Valdivia, Héctor H, García, Jesús
出版 2002

PIGO deficiency: palmoplantar keratoderma and novel mutations

由 Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen
發表在 Orphanet J Rare Dis (2017)

Distinct Epigenomic Features in End-Stage Failing Human Hearts

由 Movassagh, Mehregan, Choy, Mun-Kit, Knowles, David A., Cordeddu, Lina, Haider, Syed, Down, Thomas, Siggens, Lee, Vujic, Ana, Simeoni, Ilenia, Penkett, Chris, Goddard, Martin, Lio, Pietro, Bennett, Martin R., Foo, Roger S.-Y.
出版 2011

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

由 Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B., Bray, Paul F., Goodeve, Anne C., Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H., Freson, Kathleen
發表在 J Thromb Haemost (2019)

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

由 Staples, Emily, Simeoni, Ilenia, Stephens, Jonathan C., Allen, Hana Lango, Wright, Penny, Davies, E. Graham, Javid, Babak, Gkrania-Klotsas, Effrossyni, Gattens, Michael, Firth, Helen, Shamardina, Olga, Deevi, Sri V.V., Prapa, Matina, Uttenthal, Ben, Kumararatne, Dinakantha, Thaventhiran, James E.D.
發表在 Clin Immunol (2020)

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

由 Shovlin, Claire L., Simeoni, Ilenia, Downes, Kate, Frazer, Zoe C., Megy, Karyn, Bernabeu-Herrero, Maria E., Shurr, Abigail, Brimley, Jennifer, Patel, Dilipkumar, Kell, Loren, Stephens, Jonathan, Turbin, Isobel G., Aldred, Micheala A., Penkett, Christopher J., Ouwehand, Willem H., Jovine, Luca, Turro, Ernest
發表在 Blood (2020)

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

由 Sivapalaratnam, Suthesh, Westbury, Sarah K., Stephens, Jonathan C., Greene, Daniel, Downes, Kate, Kelly, Anne M., Lentaigne, Claire, Astle, William J., Huizinga, Eric G., Nurden, Paquita, Papadia, Sofia, Peerlinck, Kathelijne, Penkett, Christopher J., Perry, David J., Roughley, Catherine, Simeoni, Ilenia, Stirrups, Kathleen, Hart, Daniel P., Tait, R Campbell, Mumford, Andrew D., Laffan, Michael A., Freson, Kathleen, Ouwehand, Willem H., Kunishima, Shinji, Turro, Ernest
發表在 Blood (2016)

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

由 Buitrago, Lorena, Rendon, Augusto, Liang, Yupu, Simeoni, Ilenia, Negri, Ana, Filizola, Marta, Ouwehand, Willem H., Coller, Barry S., Alessi, Marie-Christine, Ballmaier, Matthias, Bariana, Tadbir, Bellissimo, Daniel, Bertoli, Marta, Bray, Paul, Bury, Loredana, Carrell, Robin, Cattaneo, Marco, Collins, Peter, French, Deborah, Favier, Remi, Freson, Kathleen, Furie, Bruce, Germeshausen, Manuela, Ghevaert, Cedric, Gomez, Keith, Goodeve, Anne, Gresele, Paolo, Guerrero, Jose, Hampshire, Dan J., Hadinnapola, Charaka, Heemskerk, Johan, Henskens, Yvonne, Hill, Marian, Hogg, Nancy, Johnsen, Jill, Kahr, Walter, Kerr, Ron, Kunishima, Shinji, Laffan, Michael, Natwani, Amit, Neerman-Arbez, Marguerite, Nurden, Paquita, Nurden, Alan, Ormiston, Mark, Othman, Maha, Ouwehand, Willem, Perry, David, Vilk, Shoshana Ravel, Reitsma, Pieter, Rondina, Matthew, Simeoni, Ilenia, Smethurst, Peter, Stephens, Jonathan, Stevenson, William, Szkotak, Artur, Turro, Ernest, Van Geet, Christel, Vries, Minka, Ward, June, Waye, John, Westbury, Sarah, Whiteheart, Sidney, Wilcox, David, Zhang, Bi
發表在 Proc Natl Acad Sci U S A (2015)

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

由 Tuijnenburg, Paul, Lango Allen, Hana, Burns, Siobhan O., Greene, Daniel, Jansen, Machiel H., Staples, Emily, Stephens, Jonathan, Carss, Keren J., Biasci, Daniele, Baxendale, Helen, Thomas, Moira, Chandra, Anita, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., Oksenhendler, Eric, Simeoni, Ilenia, de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Tuna, Salih, Whitehorn, Deborah, Brown, Matthew, Turro, Ernest, Thrasher, Adrian J., Smith, Kenneth G.C., Thaventhiran, James E., Kuijpers, Taco W.
發表在 J Allergy Clin Immunol (2018)

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

由 Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo, Simeoni, Ilenia
發表在 Hum Mutat (2019)

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

由 Downes, Kate, Megy, Karyn, Duarte, Daniel, Vries, Minka, Gebhart, Johanna, Hofer, Stefanie, Shamardina, Olga, Deevi, Sri V. V., Stephens, Jonathan, Mapeta, Rutendo, Tuna, Salih, Al Hasso, Namir, Besser, Martin W., Cooper, Nichola, Daugherty, Louise, Gleadall, Nick, Greene, Daniel, Haimel, Matthias, Martin, Howard, Papadia, Sofia, Revel-Vilk, Shoshana, Sivapalaratnam, Suthesh, Symington, Emily, Thomas, Will, Thys, Chantal, Tolios, Alexander, Penkett, Christopher J., Ouwehand, Willem H., Abbs, Stephen, Laffan, Michael A., Turro, Ernest, Simeoni, Ilenia, Mumford, Andrew D., Henskens, Yvonne M. C., Pabinger, Ingrid, Gomez, Keith, Freson, Kathleen
發表在 Blood (2019)

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

由 Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert BG, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen
發表在 Genome Med (2015)

Development and validation of a universal blood donor genotyping platform: a multinational prospective study

由 Gleadall, Nicholas S., Veldhuisen, Barbera, Gollub, Jeremy, Butterworth, Adam S., Ord, John, Penkett, Christopher J., Timmer, Tiffany C., Sauer, Carolin M., van der Bolt, Nieke, Brown, Colin, Brugger, Kim, Dilthey, Alexander T., Duarte, Daniel, Grimsley, Shane, van den Hurk, Katja, Jongerius, John M., Luken, Jessie, Megy, Karyn, Miflin, Gail, Nelson, Christopher S., Prinsze, Femmeke J., Sambrook, Jennifer, Simeoni, Ilenia, Sweeting, Michael, Thornton, Nicole, Trompeter, Sara, Tuna, Salih, Varma, Ram, Walker, Matthew R., Danesh, John, Roberts, David J., Ouwehand, Willem H., Stirrups, Kathleen E., Rendon, Augusto, Westhoff, Connie M., Di Angelantonio, Emanuele, van der Schoot, C. Ellen, Astle, William J., Watkins, Nicholas A., Lane, William J.
發表在 Blood Adv (2020)

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

由 Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K., Westbury, Sarah K., Kelly, Anne M., Selleslag, Dominik, Stephens, Jonathan C., Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J., Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V. V., Favier, Rémi, Kostadima, Myrto, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Peerlinck, Kathelijne, Perry, David J., Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N., Mumford, Andrew D., Nurden, Paquita, Stirrups, Kathleen, Bradley, John R., Raymond, F. Lucy, Laffan, Michael A., Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H.
發表在 Sci Transl Med (2016)

Whole genome sequencing of a sporadic primary immunodeficiency cohort

由 Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
發表在 Nature (2020)

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

由 Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V. V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J. A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W. M., Henskens, Yvonne M. C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest
發表在 Blood (2016)