Zobrazeno 1 - 10
of 75
pro vyhledávání: '"J. Beecroft"'
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/3d3a73f27b2c489eb0df7f7ab3fdcbf8
Autor:
Harriet Dashnow, Brent S. Pedersen, Laurel Hiatt, Joe Brown, Sarah J. Beecroft, Gianina Ravenscroft, Amy J. LaCroix, Phillipa Lamont, Richard H. Roxburgh, Miriam J. Rodrigues, Mark Davis, Heather C. Mefford, Nigel G. Laing, Aaron R. Quinlan
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-20 (2022)
Abstract Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for “novel
Externí odkaz:
https://doaj.org/article/b354d34ff2e44f32a24f0158d94420d9
Autor:
Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)
Abstract Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 include
Externí odkaz:
https://doaj.org/article/292ffbf513d44bcfa9ab0ee755c6210c
Autor:
Michael J. Roach, Sarah J. Beecroft, Kathie A. Mihindukulasuriya, Leran Wang, Anne Paredes, Kara Henry-Cocks, Lais Farias Oliveira Lima, Elizabeth A. Dinsdale, Robert A. Edwards, Scott A. Handley
BackgroundAnalysis of viral diversity using modern sequencing technologies offers extraordinary opportunities for discovery. However, these analyses present a number of bioinformatic challenges due to viral genetic diversity and virome complexity. Du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2761922e36ba18b25a8c827afe128708
https://doi.org/10.1101/2022.05.15.492003
https://doi.org/10.1101/2022.05.15.492003
Autor:
Mark R. Davis, Henry Houlden, Roisin Sullivan, Andrea Cortese, Sarah J. Beecroft, Richard Roxburgh, Carolin K. Scriba, Wai Yan Yau, Natalia Dominik, Teddy Y. Wu, Mary M. Reilly, Zoe Dyer, Gianina Ravenscroft, Miriam Rodrigues, Phillipa J. Lamont, Joshua S. Clayton, Ben Weisburd, David Chandler, Nigel G. Laing, Elizabeth B. Walker
Publikováno v:
Brain
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e7c5eb2dfa6e3718826d1973425d6d
https://doi.org/10.1093/brain/awaa263
https://doi.org/10.1093/brain/awaa263
Autor:
Nigel G. Laing, Mark R. Davis, Samantha Edwards, Phillipa J. Lamont, Sarah J. Beecroft, Hayley Goullee, Gianina Ravenscroft
Publikováno v:
Molecular Diagnosis & Therapy. 24:641-652
The impact of high-throughput sequencing in genetic neuromuscular disorders cannot be overstated. The ability to rapidly and affordably sequence multiple genes simultaneously has enabled a second golden age of Mendelian disease gene discovery, with f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7f464535d21243d54ee219d794a0c82
https://doi.org/10.1007/s40291-020-00495-2
https://doi.org/10.1007/s40291-020-00495-2
Autor:
Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernández-Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub
Publikováno v:
ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a691706cb645a7b30177cc8485ecf
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854
Autor:
Phillipa J. Lamont, Laurel Hiatt, Nigel G. Laing, Heather C Mefford, Gianina Ravenscroft, Sarah J. Beecroft, Richard Roxburgh, Joseph Brown, Aaron R. Quinlan, Brent S. Pedersen, Miriam J. Rodrigues, Amy Lacroix, Harriet Dashnow, Mark M. Davis
Publikováno v:
Genome biology. 23(1)
Expansions of short tandem repeats (STRs) cause dozens of rare Mendelian diseases. However, STR expansions, especially those arising from repeats not present in the reference genome, are challenging to detect from short-read sequencing data. Such “
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f093a700c69e55757c865d25767389a7
https://pubmed.ncbi.nlm.nih.gov/36517892
https://pubmed.ncbi.nlm.nih.gov/36517892
Autor:
Vítor Félix, Jonathan W. Martin, Edward J. Mitchell, Igor Marques, Paul D. Beer, Adam J. Beecroft, Sally Thompson
Hydrogen sulfide (H₂S) plays a crucial signalling role in a variety of physiological systems, existing as the hydrosulfide anion (HS⁻) at physiological pH. Combining the potency of halogen bonding (XB) for anion recognition in water with coumarin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086f069a709b06ebf5bfedfb25355524
http://hdl.handle.net/10773/36107
http://hdl.handle.net/10773/36107