Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ella J Wilkins"'
Autor:
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra
Publikováno v:
Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3
https://doi.org/10.1016/j.gim.2022.02.014
https://doi.org/10.1016/j.gim.2022.02.014
Autor:
Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, Lilian Johnstone
Publikováno v:
Genetics in Medicine
Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ce68ae635ad6990da54397a9010d63
https://doi.org/10.1038/s41436-020-00963-4
https://doi.org/10.1038/s41436-020-00963-4
Autor:
Andrew Dubowsky, Jinghua Feng, Amanda Wells, Stefan Fröhling, Meryl Altree, Andreas W. Schreiber, Sue Morgan, Lesley Rawlings, Richard J D'Andrea, Anna L. Brown, Chan-Eng Chong, Joëlle Michaud, Andrew H. Wei, Georges Natsoulis, Jeffrey Suttle, Rachel Susman, Cassandra Vakulin, Tilmann Bochtler, Uday R. Popat, Mark S. Currie, Paul Wang, Milena Babic, Ella J Wilkins, Christopher N. Hahn, Miriam Fine, Xiaochun Li, Jessica Burdett, Belinda Mercorella, Catherine Carmichael, Nigel Patton, Denae Henry, Marshall S. Horwitz, Peer Arts, Kerry Phillips, Julian Cooney, Sarah Moore, Sally Mapp, Nicola K. Poplawski, Thuong Ha, Sarah L King-Smith, Louise Jaensch, Shai Izraeli, Devendra K Hiwase, Julia Dobbins, Lucy A. Godley, Cecily Forsyth, Kenneth F. Bradstock, Carolyn M. Butcher, Helen Mar Fan, Grace McKavanagh, Hugh Y. Rienhoff, Hamish S. Scott, Mario Nicola, Elli Papaemmanuil, Ping Cannon, Ian D. Lewis, Claire C. Homan, Peter J. Brautigan, Alwin Krämer
Publikováno v:
Blood advances. 4(6)
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cc21538186700c18e024f443315b4b
https://pubmed.ncbi.nlm.nih.gov/32208489
https://pubmed.ncbi.nlm.nih.gov/32208489
Autor:
Peter G. Kerr, Susan M. White, Duncan MacGregor, Andrew Mallett, Cas Simons, Catherine Quinlan, Ella J Wilkins, Zornitza Stark, Kushani Jayasinghe
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 20, Iss 1, Pp 1-5 (2019)
BMC Nephrology, Vol 20, Iss 1, Pp 1-5 (2019)
Background Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ccf95bd7065f8e71ef516c64ec9982
http://europepmc.org/articles/PMC6704575
http://europepmc.org/articles/PMC6704575
Publikováno v:
American Journal of Medical Genetics Part A. 170:2895-2904
Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical significance of copy number variants detected by this technology is not always understood, creating uncertainties in inte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8fce974879f2830d3750215a9ad8d2
https://doi.org/10.1002/ajmg.a.37838
https://doi.org/10.1002/ajmg.a.37838
Autor:
Yael Prawer, Elly Lynch, Ella J Wilkins, Anna I Jarmolowicz, Giulia M Valente, Kirsty West, Gemma R Brett, Ivan Macciocca, Emma Creed
Publikováno v:
Journal of genetic counseling. 27(5)
As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::148e9cfb24e5f18e183e06fdf45ed654
https://pubmed.ncbi.nlm.nih.gov/29368275
https://pubmed.ncbi.nlm.nih.gov/29368275
Autor:
Wenyi Wang, Carolyn M. Sue, Ella J Wilkins, Martin O'Hely, Justin P. Rubio, Terence P. Speed, Wah Chin Boon, Katya Kotschet, J. Stankovitch, Malcolm K. Horne, Tiffany F. Cowie, Rachel K. Burfoot
Publikováno v:
Parkinsonism & Related Disorders. 18:386-390
Parkinson's disease (PD) is aetiologically complex with both familial and sporadic forms. Familial PD results from rare, highly penetrant pathogenic mutations whereas multiple variants of low penetrance may contribute to the risk of sporadic PD. Comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f04c3419ae543ffaecab7a827ab74af
https://doi.org/10.1016/j.parkreldis.2011.12.012
https://doi.org/10.1016/j.parkreldis.2011.12.012
Autor:
Ella J Wilkins, Richard J D'Andrea, Xiaochun Li, Anna L. Brown, Hamish S. Scott, Robert Escher, Chung H. Kok, Graeme Suthers, Marshall S. Horwitz, Milena Babic, Catherine Carmichael, Ian D. Lewis, Sarah Moore, Christopher N. Hahn, Chan-Eng Chong, Ming-Chih Lin, Kathryn Friend, Paul G Ekert, Peter J. Brautigan, Andrew E. Timms, Amandine Carmagnac, Peter Bardy, L. Bik To, Jan Storek, Meryl Altree, Lucia Gagliardi, Carolyn M. Butcher, Young Koung Lee
Publikováno v:
Nature genetics
We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c552a809103c45bdb699d3acd5de19e8
http://europepmc.org/articles/PMC3184204
http://europepmc.org/articles/PMC3184204
Autor:
Lena Eriksson, Ella J Wilkins, Catherine Carmichael, Junia V. Melo, Carolyn M. Butcher, Hamish S. Scott, Ian D. Lewis, Richard J D'Andrea, Petra J. Neufing, Peter Bardy
Publikováno v:
British Journal of Haematology. 153:672-675
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0caa5b046ed9cdfb030174b28c6faada
https://doi.org/10.1111/j.1365-2141.2011.08589.x
https://doi.org/10.1111/j.1365-2141.2011.08589.x
Autor:
Ella J Wilkins, Hamish S. Scott, Paul C. Vincent, Christopher N. Hahn, Henrik Bengtsson, Graham P Young, Robert Escher, Catherine Carmichael, Marshall S. Horwitz, Terence P. Speed
Publikováno v:
British Journal of Haematology. 150:382-385
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6580b50a807ad9a38f8663ce56826e0
https://doi.org/10.1111/j.1365-2141.2010.08204.x
https://doi.org/10.1111/j.1365-2141.2010.08204.x