Novel somatic mutations in UBA1 as a cause of VEXAS syndrome
Poulter, James A., Collins, Jason C., Cargo, Catherine, De Tute, Ruth M., Evans, Paul, Ospina Cardona, Daniela, Bowen, David T., Cunnington, Joanna R., Baguley, Elaine, Quinn, Mark, Green, Michael, McGonagle, Dennis, Beck, David B., Werner, Achim, Savic, Sinisa
Published in Blood (01.07.2021)
Published in Blood (01.07.2021)
Get full text
Journal Article
Neurodegenerative Disease and the NLRP3 Inflammasome
Holbrook, Jonathan A, Jarosz-Griffiths, Heledd H, Caseley, Emily, Lara-Reyna, Samuel, Poulter, James A, Williams-Gray, Caroline H, Peckham, Daniel, McDermott, Michael F
Published in Frontiers in pharmacology (10.03.2021)
Published in Frontiers in pharmacology (10.03.2021)
Get full text
Journal Article
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis
Ferrada, Marcela A., Savic, Sinisa, Cardona, Daniela Ospina, Collins, Jason C., Alessi, Hugh, Gutierrez-Rodrigues, Fernanda, Kumar, Dinesh Babu Uthaya, Wilson, Lorena, Goodspeed, Wendy, Topilow, James S., Paik, Julie J., Poulter, James A., Kermani, Tanaz A., Koster, Matthew J., Warrington, Kenneth J., Cargo, Catherine, Tattersall, Rachel S., Duncan, Christopher J.A., Cantor, Anna, Hoffmann, Patrycja, Payne, Elspeth M., Bonnekoh, Hanna, Krause, Karoline, Cowen, Edward W., Calvo, Katherine R., Patel, Bhavisha A., Ombrello, Amanda K., Kastner, Daniel L., Young, Neal S., Werner, Achim, Grayson, Peter C., Beck, David B.
Published in Blood (29.09.2022)
Published in Blood (29.09.2022)
Get full text
Journal Article
Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Smith, Claire E L, Poulter, James A, Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J, Inglehearn, Chris F, Mighell, Alan J
Published in Frontiers in physiology (26.06.2017)
Published in Frontiers in physiology (26.06.2017)
Get full text
Journal Article
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Stremenova Spegarova, Jarmila, Lawless, Dylan, Mohamad, Siti Mardhiana Binti, Engelhardt, Karin R., Doody, Gina, Shrimpton, Jennifer, Rensing-Ehl, Anne, Ehl, Stephan, Rieux-Laucat, Frederic, Cargo, Catherine, Griffin, Helen, Mikulasova, Aneta, Acres, Meghan, Morgan, Neil V., Poulter, James A., Sheridan, Eamonn G., Chetcuti, Philip, O'Riordan, Sean, Anwar, Rashida, Carter, Clive R., Przyborski, Stefan, Windebank, Kevin, Cant, Andrew J., Lako, Majlinda, Bacon, Chris M., Savic, Sinisa, Hambleton, Sophie
Published in Blood (27.08.2020)
Published in Blood (27.08.2020)
Get full text
Journal Article
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
Get full text
Journal Article
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
Get full text
Journal Article
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
Collin, Rob W. J., Nikopoulos, Konstantinos, Dona, Margo, Gilissen, Christian, Hoischen, Alexander, Boonstra, F. Nienke, Poulter, James A., Kondo, Hiroyuki, Berger, Wolfgang, Toomes, Carmel, Tahira, Tomoko, Mohn, Lucas R., Blokland, Ellen A., Hetterschijt, Lisette, Ali, Manir, Groothuismink, Johanne M., Duijkers, Lonneke, Inglehearn, Chris F., Sollfrank, Lea, Strom, Tim M., Uchio, Eiichi, van Nouhuys, C. Erik, Kremer, Hannie, Veltman, Joris A., van Wijk, Erwin, Cremers, Frans P. M.
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
Get full text
Journal Article
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
Get full text
Journal Article
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy
Tanner, Georgette, Barrow, Rhiannon, Ajaib, Shoaib, Al-Jabri, Muna, Ahmed, Nazia, Pollock, Steven, Finetti, Martina, Rippaus, Nora, Bruns, Alexander F, Syed, Khaja, Poulter, James A, Matthews, Laura, Hughes, Thomas, Wilson, Erica, Johnson, Colin, Varn, Frederick S, Brüning-Richardson, Anke, Hogg, Catherine, Droop, Alastair, Gusnanto, Arief, Care, Matthew A, Cutillo, Luisa, Westhead, David R, Short, Susan C, Jenkinson, Michael D, Brodbelt, Andrew, Chakrabarty, Aruna, Ismail, Azzam, Verhaak, Roel G W, Stead, Lucy F
Published in Genome Biology (07.02.2024)
Published in Genome Biology (07.02.2024)
Get full text
Journal Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
Get full text
Journal Article
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
Get full text
Journal Article
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
Get full text
Journal Article
Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
Get full text
Journal Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
Get full text
Journal Article
Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience
Al-Hakim, Adam, Poulter, James A, Mahmoud, Dina, Rose, Ailsa M S, Elcombe, Suzanne, Lachmann, Helen, Cargo, Catherine, Duncan, Christopher J A, Bishton, Mark, Bigley, Venetia, Khan, Anjum, Savic, Sinisa
Published in British journal of haematology (01.12.2022)
Published in British journal of haematology (01.12.2022)
Get full text
Journal Article
Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement
El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Hardcastle, Alison, Michaelides, Michel, Cheetham, Michael, Arno, Gavin, Thomas, Niclas, Bhattacharya, Shomi, Moore, Tony, Nemeth, Andrea, Downes, Susan, Lise, Stefano, Lord, Emma, Johnson, Colin A., Carr, Ian M., Leroy, Bart P., De Baere, Elfride, Inglehearn, Chris F., Webster, Andrew R., Toomes, Carmel, Ali, Manir
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
Get full text
Journal Article
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
Get full text
Journal Article
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
Get full text
Journal Article
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
Get full text
Journal Article