Zobrazeno 1 - 10
of 637
pro vyhledávání: '"Baple, E."'
Autor:
Hjeij R; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany., Leslie J; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Rizk H; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura 35516, Egypt., Dworniczak B; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany., Olbrich H; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany., Raidt J; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany., Bode SFN; Department of Pediatrics, University Hospital Ulm, 89075 Ulm, Germany., Gardham A; North West Thames Regional Genetic Service, North West London Hospitals, London HA1 2UJ, UK., Stals K; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Al-Haggar M; Genetics Unit, Pediatrics Department, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt., Osman E; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura 35516, Egypt., Crosby A; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Eldesoky T; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura 35516, Egypt., Baple E; Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Omran H; Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany.
Publikováno v:
Cells [Cells] 2024 Jun 11; Vol. 13 (12). Date of Electronic Publication: 2024 Jun 11.
Autor:
D'Atri I; School of Physiology, Pharmacology and Neuroscience, University of Bristol, BS8 1TD, United Kingdom; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Martin ER; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Yang L; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Sears E; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Baple E; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Crosby AH; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom., Chilton JK; Peninsula Medical School, University of Plymouth, Plymouth, United Kingdom., Oguro-Ando A; University of Exeter Medical School, University of Exeter, Exeter, United Kingdom; Laboratory of Pharmacology, Faculty of Pharmaceutical Science, Tokyo University of Science, Japan. Electronic address: A.Oguro-Ando@exeter.ac.uk.
Publikováno v:
Neuroscience letters [Neurosci Lett] 2024 May 01; Vol. 830, pp. 137778. Date of Electronic Publication: 2024 Apr 15.
Autor:
Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Smith, S. C., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Tanguy, M., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Cerkauskaite, Agne, Savige, Judy
Publikováno v:
Scientific reports, Berlin : Nature Research, 2022, vol. 12, no. 1, art. no. 2722, p. [1-13]
Scientific Reports
Scientific Reports
Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly substituti
Autor:
Park, Joohyun, Tucci, Arianna, Cali, Elisa, Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Vestito, Letizia, Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Maroofian, Reza, Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J H, Horvath, Rita, Cipriani, Valentina, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Consortium, Genomics England Research, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Demidov, German, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Rocca, Clarissa, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger, Senderek, Jan, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Butryn, Michaela, Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Velic, Ana, Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lam, Tanya, Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Galanaki, Evangelia, Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T.
Publikováno v:
Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 2079-2090
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 2079-2090
Purpose Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b701ad5919ac8af14db5fbd7dc6d5394
https://doi.org/10.1016/j.gim.2022.07.006
https://doi.org/10.1016/j.gim.2022.07.006
Autor:
Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Westerberg, Henrik, Scott, R. H., Siddiq, A., Sieghart, A., Smith, K. R., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Konopka, Tomasz, Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Hsu, Chih-Wei, Marschall, Susan, Lengger, Christoph, Maier, Holger, Seisenberger, Claudia, Bürger, Antje, Kühn, Ralf, Schick, Joel, Hörlein, Andreas, Oritz, Oskar, Giesert, Florian, Christiansen, Audrey, Beig, Joachim, Kenyon, Janet, Codner, Gemma, Fray, Martin, Johnson, Sara J, Cleak, James, Szoke-Kovacs, Zsombor, Lafont, David, Vancollie, Valerie E, McLaren, Robbie S B, Lanza, Denise G, Hughes-Hallett, Lena, Rowley, Christine, Sanderson, Emma, Galli, Antonella, Tuck, Elizabeth, Green, Angela, Tudor, Catherine, Siragher, Emma, Dabrowska, Monika, Mazzeo, Cecilia Icoresi, Beaudet, Arthur L, Griffiths, Mark, Gannon, David, Doe, Brendan, Cockle, Nicola, Kirton, Andrea, Bottomley, Joanna, Ingle, Catherine, Ryder, Edward, Gleeson, Diane, Ramirez-Solis, Ramiro, Heaney, Jason D, Birling, Marie-Christine, Pavlovic, Guillaume, Ayadi, Abdel, Hamid, Meziane, About, Ghina Bou, Champy, Marie-France, Jacobs, Hugues, Wendling, Olivia, Leblanc, Sophie, Vasseur, Laurent, Fuchs, Helmut, Chesler, Elissa J, Kumar, Vivek, White, Jacqueline K, Svenson, Karen L, Wiegand, Jean-Paul, Anderson, Laura L, Wilcox, Troy, Clark, James, Ryan, Jennifer, Denegre, James, Gailus-Durner, Valerie, Stearns, Tim, Philip, Vivek, Witmeyer, Catherine, Bates, Lindsay, Seavey, Zachary, Stanley, Pamela, Willet, Amelia, Roper, Willson, Creed, Julie, Moore, Michayla, Sorg, Tania, Dorr, Alex, Fraungruber, Pamelia, Presby, Rose, Mckay, Matthew, Nguyen-Bresinsky, Dong, Goodwin, Leslie, Urban, Rachel, Kane, Coleen, Murray, Stephen A, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J, Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Dickinson, Mary E, Sedlacek, Radislav, Adams, David J, Seavitt, John R, Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E, McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Bucan, Maja, Lloyd, K C Kent, Brown, Steve D M, Parkinson, Helen, Meehan, Terrence F, Smedley, Damian, Consortium, Genomics England Research, Consortium, International Mouse Phenotyping, Ambrose, J. C., Arumugam, P., Baple, E. L., Nutter, Lauryl M J, Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Peterson, Kevin A, Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Haselimashhadi, Hamed, Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Flenniken, Ann M, Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Patch, C., Morgan, Hugh, Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K.
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nat. Commun. 11:655 (2020)
Nature Communications 11(1), 655 (2020). doi:10.1038/s41467-020-14284-2
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications 11 (2020): 1–16. doi:10.1038/s41467-020-14284-2
info:cnr-pdr/source/autori:Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen/titolo:Human and mouse essentiality screens as a resource for disease gene discovery/doi:10.1038%2Fs41467-020-14284-2/rivista:Nature communications/anno:2020/pagina_da:1/pagina_a:16/intervallo_pagine:1–16/volume:11
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications, vol 11, iss 1
Nat. Commun. 11:655 (2020)
Nature Communications 11(1), 655 (2020). doi:10.1038/s41467-020-14284-2
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications 11 (2020): 1–16. doi:10.1038/s41467-020-14284-2
info:cnr-pdr/source/autori:Cacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen/titolo:Human and mouse essentiality screens as a resource for disease gene discovery/doi:10.1038%2Fs41467-020-14284-2/rivista:Nature communications/anno:2020/pagina_da:1/pagina_a:16/intervallo_pagine:1–16/volume:11
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Nature communications, vol 11, iss 1
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814ec4680703a794c0981226b81ed4d3
Akademický článek
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Autor:
Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Genomics England Research Consortium, Savige, Judy, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A.
Publikováno v:
Scientific Reports; 7/4/2022, Vol. 12 Issue 1, p1-11, 11p
Autor:
Best S; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Yu J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK., Lord J; University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Roche M; Windsor House Group Practice, Mid Yorkshire Hospitals NHS Trust, Leeds, UK., Watson CM; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Bevers RPJ; Genomics England, Queen Mary University of London, London, UK., Stuckey A; Genomics England, Queen Mary University of London, London, UK., Madhusudhan S; St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, UK., Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Sisodiya SM; University College London (UCL) Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont, UK., Lin S; Department of Ophthalmology, Torbay and South Devon NHS Foundation Trust, Torquay, UK.; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Turner S; Department of Ophthalmology, Torbay and South Devon NHS Foundation Trust, Torquay, UK., Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Leslie JS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., Baple E; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Inglehearn C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Wheway G; University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK c.johnson@leeds.ac.uk.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Dec; Vol. 59 (12), pp. 1151-1164. Date of Electronic Publication: 2022 Jun 28.
Autor:
Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle‐Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Ambrose, J. C., Jackson, R., Ryten, M., Arumugam, P., Jones, L. J., Savage, K., Baple, E. L., Kasperaviciute, D., Sawant, K., Bleda, M.
Publikováno v:
Annals of Neurology; Jan2022, Vol. 91 Issue 1, p101-116, 16p
Autor:
Loong L; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Choi S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Durkie M; Sheffield Diagnostic Genetics Service, NHS North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Callaway A; Wessex Regional Genetics Laboratory, Central and South Genomics Laboratory Hub, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom., Drummond J; Cambridge Genomic Laboratory, East Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom., Burghel GJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Robinson R; North East and Yorkshire Genomic Laboratory Hub, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Berry IR; Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Wallace AJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Eccles DM; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Ellard S; Exeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; University of Exeter Medical School, Exeter, United Kingdom., Baple E; University of Exeter Medical School, Exeter, United Kingdom; Genomics England, London, United Kingdom., Evans DG; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Division of Evolution & Genomic Sciences, The University of Manchester, Manchester, United Kingdom., Woodward ER; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Division of Evolution & Genomic Sciences, The University of Manchester, Manchester, United Kingdom., Kulkarni A; Southeast Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Lalloo F; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Lucassen A; Wellcome Centre for Human Genetics/Centre for Personalised Medicine, University of Oxford, Oxford, United Kingdom; Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address: clare.turnbull@icr.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1867-1877. Date of Electronic Publication: 2022 Jun 03.