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10 results on '"Koziell, Ania"'

1. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional

Published
2023
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2. Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome

Author

Downie, Mallory L., primary, Gupta, Sanjana, additional, Chan, Melanie M. Y., additional, Sadeghi-Alavijeh, Omid, additional, Cao, Jingjing, additional, Parekh, Rulan S., additional, Diz, Carmen Bugarin, additional, Bierzynska, Agnieszka, additional, Levine, Adam P., additional, Pepper, Ruth J., additional, Stanescu, Horia, additional, Saleem, Moin A., additional, Kleta, Robert, additional, Bockenhauer, Detlef, additional, Koziell, Ania B., additional, and Gale, Daniel P., additional

Published
2022
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3. Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Author

Bierzynska, Agnieszka, primary, Bull, Katherine, additional, Miellet, Sara, additional, Dean, Philip, additional, Neal, Chris, additional, Colby, Elizabeth, additional, McCarthy, Hugh J., additional, Hegde, Shivaram, additional, Sinha, Manish D., additional, Bugarin Diz, Carmen, additional, Stirrups, Kathleen, additional, Megy, Karyn, additional, Mapeta, Rutendo, additional, Penkett, Chris, additional, Marsh, Sarah, additional, Forrester, Natalie, additional, Afzal, Maryam, additional, Stark, Hannah, additional, BioResource, NIHR, additional, Williams, Maggie, additional, Welsh, Gavin I., additional, Koziell, Ania B., additional, Hartley, Paul S., additional, and Saleem, Moin A., additional

Published
2022
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4. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional

Published
2021
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5. Whole-genome sequencing of patients with rare diseases in a national health system

Author

Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi BA, Saleem, Moin A, Smith, Kenneth GC, Stark, Hannah, Tan, Rhea YY, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, NIHR BioResource For The 100,000 Genomes Project, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H, Ouwehand, Willem H [0000-0002-7744-1790], and Apollo - University of Cambridge Repository

Subjects
Erythrocytes, Internationality, Databases, Factual, National Health Programs, Whole Genome Sequencing, Quantitative Trait Loci, Actin-Related Protein 2-3 Complex, State Medicine, United Kingdom, Phenotype, Rare Diseases, Humans, GATA1 Transcription Factor, Receptors, Thrombopoietin, Alleles, Adaptor Proteins, Signal Transducing
Abstract

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

Published
2020
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7. FAT1 mutations cause a glomerulotubular nephropathy

Author

Gee, Heon Yung, primary, Sadowski, Carolin E., additional, Aggarwal, Pardeep K., additional, Porath, Jonathan D., additional, Yakulov, Toma A., additional, Schueler, Markus, additional, Lovric, Svjetlana, additional, Ashraf, Shazia, additional, Braun, Daniela A., additional, Halbritter, Jan, additional, Fang, Humphrey, additional, Airik, Rannar, additional, Vega-Warner, Virginia, additional, Cho, Kyeong Jee, additional, Chan, Timothy A., additional, Morris, Luc G. T., additional, ffrench-Constant, Charles, additional, Allen, Nicholas, additional, McNeill, Helen, additional, Büscher, Rainer, additional, Kyrieleis, Henriette, additional, Wallot, Michael, additional, Gaspert, Ariana, additional, Kistler, Thomas, additional, Milford, David V., additional, Saleem, Moin A., additional, Keng, Wee Teik, additional, Alexander, Stephen I., additional, Valentini, Rudolph P., additional, Licht, Christoph, additional, Teh, Jun C., additional, Bogdanovic, Radovan, additional, Koziell, Ania, additional, Bierzynska, Agnieszka, additional, Soliman, Neveen A., additional, Otto, Edgar A., additional, Lifton, Richard P., additional, Holzman, Lawrence B., additional, Sibinga, Nicholas E. S., additional, Walz, Gerd, additional, Tufro, Alda, additional, and Hildebrandt, Friedhelm, additional

Published
2016
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8. Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Author

Lennon, Rachel, primary, Stuart, Helen M., additional, Bierzynska, Agnieszka, additional, Randles, Michael J., additional, Kerr, Bronwyn, additional, Hillman, Katherine A., additional, Batra, Gauri, additional, Campbell, Joanna, additional, Storey, Helen, additional, Flinter, Frances A., additional, Koziell, Ania, additional, Welsh, Gavin I., additional, Saleem, Moin A., additional, Webb, Nicholas J. A., additional, and Woolf, Adrian S., additional

Published
2015
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9. Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial

Author

Webb, Nicholas J A, primary, Frew, Emma, additional, Brettell, Elizabeth A, additional, Milford, David V, additional, Bockenhauer, Detlef, additional, Saleem, Moin A, additional, Christian, Martin, additional, Hall, Angela S, additional, Koziell, Ania, additional, Maxwell, Heather, additional, Hegde, Shivram, additional, Finlay, Eric R, additional, Gilbert, Rodney D, additional, Booth, Jenny, additional, Jones, Caroline, additional, McKeever, Karl, additional, Cook, Wendy, additional, and Ives, Natalie J, additional

Published
2014
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