Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest

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Dominant missense mutations in ABCC9 cause Cantú syndrome von Harakalova, Magdalena, van Harssel, Jeske J T, Terhal, Paulien A, van Lieshout, Stef, Duran, Karen, Renkens, Ivo, Amor, David J, Wilson, Louise C, Kirk, Edwin P, Turner, Claire L S, Shears, Debbie, Garcia-Minaur, Sixto, Lees, Melissa M, Ross, Alison, Venselaar, Hanka, Vriend, Gert, Takanari, Hiroki, Rook, Martin B, van der Heyden, Marcel A G, Asselbergs, Folkert W, Breur, Hans M, Swinkels, Marielle E, Scurr, Ingrid J, Smithson, Sarah F, Knoers, Nine V, van der Smagt, Jasper J, Nijman, Isaac J, Kloosterman, Wigard P, van Haelst, Mieke M, van Haaften, Gijs, Cuppen, Edwin

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Mosaic Turner syndrome shows reduced penetrance in an adult population study von Tuke, Marcus A., Ruth, Katherine S., Wood, Andrew R., Beaumont, Robin N., Tyrrell, Jessica, Jones, Samuel E., Yaghootkar, Hanieh, Turner, Claire L. S., Donohoe, Mollie E., Brooke, Antonia M., Collinson, Morag N., Freathy, Rachel M., Weedon, Michael N., Frayling, Timothy M., Murray, Anna

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Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis von Gilbert, Rodney D., Turner, Claire L.S., Gibson, Jane, Bass, Paul S., Haq, Mushfequr R., Cross, Esta, Bunyan, David J., Collins, Andrew R., Tapper, William J., Needell, Juliet C., Dell, Beverley, Morton, Newton E., Temple, I. Karen, Robinson, David O.

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans von Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure von Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in... von Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian

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Response to Prakash et al von Tuke, Marcus A., Ruth, Katherine S., Wood, Andrew R., Beaumont, Robin N., Tyrrell, Jessica, Jones, Samuel E., Yaghootkar, Hanieh, Turner, Claire L. S., Donohoe, Mollie E., Brooke, Antonia M., Collinson, Morag N., Freathy, Rachel M., Weedon, Michael N., Frayling, Timothy M., Murray, Anna

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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome von Meester, Josephina A. N., Hebert, Anne, Bastiaansen, Maaike, Rabaut, Laura, Bastianen, Jarl, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Hartill, Verity, Houweling, Arjan C., Isidor, Bertrand, Jackson, Nicola, Koopman, Pieter, Korpioja, Anita, Kraatari-Tiri, Minna, Kuulavainen, Liina, Lee, Kelvin, Low, Karen J., Lu, Alan C., McManus, Morgan L., Oakley, Stephen P., Oliver, James, Organ, Nicole M., Overwater, Eline, Revencu, Nicole, Trainer, Alison H., Trivedi, Bhavya, Turner, Claire L. S., Whittington, Rebecca, Zankl, Andreas, Zentner, Dominica, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.

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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance von Barber, John C. K., Rosenfeld, Jill A., Graham, John M., Kramer, Nancy, Lachlan, Katherine L., Bateman, Mark S., Collinson, Morag N., Stadheim, Barbro Fossøy, Turner, Claire L. S., Gauthier, Jacqueline N., Reimschisel, Tyler E., Qureshi, Athar M., Dabir, Tabib A., Humphreys, Mervyn W., Marble, Michael, Huang, Taosheng, Beal, Sarah J., Massiah, Joanne, Taylor, Emma-Jane, Wynn, Sarah L.

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Zellweger syndrome resulting from maternal isodisomy of chromosome 1 von Turner, Claire L.S., Bunyan, David J., Thomas, N. Simon, Mackay, Deborah J.G., Jones, Huw P., Waterham, Hans R., Wanders, Ronald J.A., Temple, I. Karen

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families von Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C. E., Turner, Claire L. S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families von Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C.E., Turner, Claire L.S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit

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Zellweger syndrome resulting from maternal isodisomy of chromosome von TURNER, Claire L. S, BUNYAN, David J, THOMAS, N. Simon, MACKAY, Deborah J. G, JONES, Huw P, WATERHAM, Hans R, WANDERS, Ronald J. A, TEMPLE, I. Karen

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud PJ, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire LS, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Genomics England Research Consortium, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud PJ, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire LS, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Genomics England Research Consortium, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud PJ, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire LS, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, Daniel, Genomics England Research Consortium, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud PJ, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire LS, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans von Docherty, Louise E, Rezwan, Faisal I, Poole, Rebecca L, Turner, Claire LS, Kivuva, Emma, Maher, Eamonn R, Smithson, Sarah F, Hamilton-Shield, Julian P, Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I Karen, Mackay, Deborah JG

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Safety and immunogenicity of heterologous versus homologous prime-boost schedules with an adenoviral vectored and mRNA COVID-19 vaccine (Com-COV): a single-blind, randomised, non-i... von Liu, Xinxue, Shaw, Robert H, Stuart, Arabella S V, Greenland, Melanie, Aley, Parvinder K, Andrews, Nick J, Cameron, J Claire, Charlton, Sue, Clutterbuck, Elizabeth A, Collins, Andrea M, Dinesh, Tanya, England, Anna, Faust, Saul N, Ferreira, Daniela M, Finn, Adam, Green, Christopher A, Hallis, Bassam, Heath, Paul T, Hill, Helen, Lambe, Teresa, Lazarus, Rajeka, Libri, Vincenzo, Long, Fei, Mujadidi, Yama F, Plested, Emma L, Provstgaard-Morys, Samuel, Ramasamy, Maheshi N, Ramsay, Mary, Read, Robert C, Robinson, Hannah, Singh, Nisha, Turner, David P J, Turner, Paul J, Walker, Laura L, White, Rachel, Nguyen-Van-Tam, Jonathan S, Snape, Matthew D, Munro, Alasdair P S, Bartholomew, Jazz, Presland, Laura, Horswill, Sarah, Warren, Sarah, Varkonyi-Clifford, Sophie, Saich, Stephen, Adams, Kirsty, Ricamara, Marivic, Turner, Nicola, Yee Ting, Nicole Y, Whittley, Sarah, Rampling, Tommy, Desai, Amisha, Brown, Claire H, Qureshi, Ehsaan, Gokani, Karishma, Naker, Kush, Kellett Wright, Johanna K, Williams, Rachel L, Riaz, Tawassal, Penciu, Florentina D, Di Maso, Claudio, Howe, Elizabeth G, Vichos, Iason, Ghulam Farooq, Mujtaba, Noristani, Rabiullah, Yao, Xin L, Oldfield, Neil J, Hammersley, Daniel, Belton, Sue, Royal, Simon, San Francisco Ramos, Alberto, Hultin, Cecilia, Galiza, Eva P, Shiham, Farah, Solórzano, Carla, Sainsbury, Hannah, Davies, Kelly, Ambrose, Pauline, Hitchins, Lisa, Baker, Natalie, Leung, Stephanie, Fothergill, Ross, Godwin, Kerry, Buttigieg, Karen, Shaik, Imam, Brown, Phill, Knight, Chanice, Lall, Paminder, Allen, Lauren

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