Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Emma, Baple"'
Autor:
Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran
Publikováno v:
Cells, Vol 13, Iss 12, p 1017 (2024)
Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inv
Externí odkaz:
https://doaj.org/article/fc5c579b6c0a47f193de2479c29dfa89
Autor:
Melissa Hill, Sian Ellard, Naomi Fulop, Jane Fisher, Mark Kroese, Marian Knight, Kerry Leeson-Beevers, Jean Ledger, Dominic McMullan, Alec McEwan, Stephen Morris, Rhiannon Mellis, Dagmar Tapon, Michael Parker, Laura Blackburn, Holly Walton, Emma Baple, Caroline Lafarge, Asya Choudry, Emma Smith, Michelle Peter, Hannah McInnes-Dean, Lauren Roberts, Rema Ramakrishnan, Sarah L. Wynn, Beverly Searle, Lyn S. Chitty, Wing Han Wu
Publikováno v:
NIHR Open Research, Vol 2 (2022)
Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Pr
Externí odkaz:
https://doaj.org/article/af33ebd7bc914d6686b2060b3f3fc0ec
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Autor:
Lucy Loong, Alice Garrett, Sophie Allen, Subin Choi, Miranda Durkie, Alison Callaway, James Drummond, George J. Burghel, Rachel Robinson, Beth Torr, Ian R. Berry, Andrew J. Wallace, Diana M. Eccles, Sian Ellard, Emma Baple, D. Gareth Evans, Emma R. Woodward, Anjana Kulkarni, Fiona Lalloo, Marc Tischkowitz, Anneke Lucassen, Helen Hanson, Clare Turnbull
Publikováno v:
CanVIG-UK 2022, ' Reclassification of clinically-detected sequence variants : Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 9, pp. 1867-1877 . https://doi.org/10.1016/j.gim.2022.05.002
PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d795a4272373cf5fa5895b9eda2fd9d7
https://www.research.manchester.ac.uk/portal/en/publications/reclassification-of-clinicallydetected-sequence-variants(7f42d42c-b845-4c2a-990e-38d7439b0c1e).html
https://www.research.manchester.ac.uk/portal/en/publications/reclassification-of-clinicallydetected-sequence-variants(7f42d42c-b845-4c2a-990e-38d7439b0c1e).html
Autor:
Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki
Publikováno v:
WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2
BACKGROUND: Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924d
https://eprints.soton.ac.uk/455528/
https://eprints.soton.ac.uk/455528/
Autor:
Sunayna, Best, Jing, Yu, Jenny, Lord, Matthew, Roche, Christopher Mark, Watson, Roel P J, Bevers, Alex, Stuckey, Savita, Madhusudhan, Rosalyn, Jewell, Sanjay M, Sisodiya, Siying, Lin, Stephen, Turner, Hannah, Robinson, Joseph S, Leslie, Emma, Baple, Carmel, Toomes, Chris, Inglehearn, Gabrielle, Wheway, S M, Wood
Publikováno v:
Journal of medical genetics. 59(12)
BackgroundThe 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human Phenoty
Autor:
Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle
Publikováno v:
Ismail, V, Zachariassen, L G, Godwin, A, Sahakian, M, Ellard, S, Stals, K L, Baple, E, Brown, K T, Foulds, N, Wheway, G, Parker, M O, Lyngby, S M, Pedersen, M G, Desir, J, Bayat, A, Musgaard, M, Guille, M, Kristensen, A S & Baralle, D 2022, ' Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID : An emerging neurodevelopmental syndrome ', American Journal of Human Genetics, vol. 109, no. 7, pp. 1217-1241 . https://doi.org/10.1016/j.ajhg.2022.05.009
GRIA1 encodes the GluA1 subunit of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L-glutamate (Glu). AMPA receptors (AMPARs) are ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2447239acb651f58a52c081710ba7e50
https://curis.ku.dk/portal/da/publications/identification-and-functional-evaluation-of-gria1-missense-and-truncation-variants-in-individuals-with-id(9576e283-94cc-4daf-91c3-e74d23a8b35f).html
https://curis.ku.dk/portal/da/publications/identification-and-functional-evaluation-of-gria1-missense-and-truncation-variants-in-individuals-with-id(9576e283-94cc-4daf-91c3-e74d23a8b35f).html
Autor:
Antonio Rueda, Martin, Eleanor, Williams, Rebecca E, Foulger, Sarah, Leigh, Louise C, Daugherty, Olivia, Niblock, Ivone U S, Leong, Katherine R, Smith, Oleg, Gerasimenko, Eik, Haraldsdottir, Ellen, Thomas, Richard H, Scott, Emma, Baple, Arianna, Tucci, Helen, Brittain, Anna, de Burca, Kristina, Ibañez, Dalia, Kasperaviciute, Damian, Smedley, Mark, Caulfield, Augusto, Rendon, Ellen M, McDonagh
Publikováno v:
Nature genetics. 51(11)
Autor:
Monica, Cubillos-Rojas, Taiane, Schneider, Ouadah, Hadjebi, Leonardo, Pedrazza, Jarbas Rodrigues, de Oliveira, Francina, Langa, Jean-Louis, Guénet, Joan, Duran, Josep Maria, de Anta, Soledad, Alcántara, Rocio, Ruiz, Eva María, Pérez-Villegas, Francisco J, Aguilar-Montilla, Ángel M, Carrión, Jose Angel, Armengol, Emma, Baple, Andrew H, Crosby, Ramon, Bartrons, Francesc, Ventura, Jose Luis, Rosa
Publikováno v:
Oncotarget
A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein with ubiquitin ligase activity that regulates the activity of tumor protein p53 and is invol
Autor:
Hjeij, Rim1 (AUTHOR) bernd.dworniczak@t-online.de, Leslie, Joseph2 (AUTHOR) j.leslie@exeter.ac.uk, Rizk, Hoda3 (AUTHOR) hodarizk@mans.edu.eg, Dworniczak, Bernd1 (AUTHOR) heike.olbrich@ukmuenster.de, Olbrich, Heike1 (AUTHOR) johanna.raidt@ukmuenster.de, Raidt, Johanna1 (AUTHOR) heymut.omran@ukmuenster.de, Bode, Sebastian Felix Nepomuk4 (AUTHOR) sebastian.bode@uniklinik-ulm.de, Gardham, Alice5 (AUTHOR) alice.gardham@nhs.net, Stals, Karen6 (AUTHOR) karen.stals@nhs.net, Al-Haggar, Mohammad7 (AUTHOR) malhaggar@mans.edu.eg, Osman, Engy3 (AUTHOR) engyosman73@mans.edu.eg, Crosby, Andrew2 (AUTHOR) a.h.crosby@exeter.ac.uk, Eldesoky, Tarek3 (AUTHOR) tarekdag@mans.edu.eg, Baple, Emma2,8 (AUTHOR) e.baple@exeter.ac.uk, Omran, Heymut1 (AUTHOR)
Publikováno v:
Cells (2073-4409). Jun2024, Vol. 13 Issue 12, p1017. 11p.