Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Isabelle Delon"'
Autor:
Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100113- (2022)
Summary: To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a bioinformatics pipeline fo
Externí odkaz:
https://doaj.org/article/d0639a514d104d5591320431e35ee69b
Autor:
Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Abstract Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (
Externí odkaz:
https://doaj.org/article/e563cd1c639d49d89247155d92c3c084
Autor:
Zoya Kingsbury, Andrew J. Connell, Ryan J. Taft, Alba Sanchis-Juan, Courtney E. French, Matthew E.R. Butchbach, David R. Bentley, Aditi Chawla, Xiao Chen, Isabelle Delon, Michael A. Eberle, Aaron L. Halpern, F Lucy Raymond, Nihr BioResource
Publikováno v:
Genetics in Medicine
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0
PurposeSpinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantif
Autor:
Christopher McGuigan, Brian A. Lawlor, Alan Beausang, Henry Houlden, Isabelle Delon, Francesca Brett, Timothy Lynch, Ioanna Sevastou, James M. Polke, Diana A. Olszewska, Terri P. McVeigh, Rohan de Silva, Núria Setó-Salvia, Robert F. Coen, Conor Fearon, Michael Hutchinson, M. Hutton
Publikováno v:
Neurobiology of Aging. 106:343.e1-343.e8
We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). We describe th
Autor:
Leanne Sparnon, Jennifer Hague, Soo-Mi Park, Howard Martin, Ingrid Simonic, Isabelle Delon, Kim Brügger, Stephen Abbs
Publikováno v:
American Journal of Medical Genetics Part A. 173:1931-1935
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype
Autor:
Karyn Megy, Nicholas Gleadall, Christopher E. French, Ricardo Garcia Branco, Marie Erwood, Topun Austin, Olga Shamardina, Willem H. Ouwehand, Helen Dolling, F Lucy Raymond, Alba Sanchis-Juan, Luca Stefanucci, Keren J. Carss, Jonathan Stephens, Eleanor Dewhurst, Trevor Cole, Christopher J. Penkett, Isabelle Delon, Detelina Grozeva, Kathleen Stirrups, Andrew R. Webster, Gavin Arno
Publikováno v:
Genome Medicine
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e230ee602594ac877e6a8865a81deae2
https://www.repository.cam.ac.uk/handle/1810/289618
https://www.repository.cam.ac.uk/handle/1810/289618
Publikováno v:
American Journal of Medical Genetics Part A. 170:1608-1612
We report a case of a female child who has classical Freeman-Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G > A, p. (Arg672His), in MYH3 where the phenotypically normal mother
Autor:
Stanley Fahn, Niall Pender, Michael Hutton, Stephanie Cosentino, Seán O'Dowd, Gemma Cummins, Timothy Lynch, Brendan D. Kelly, Allan McCarthy, Martin O'Connell, Roisin Lonergan, Isabelle Delon, Michael Farrell, Diana A. Olszewska, Peter J. Craig, Edward D. Huey, Emer Fallon, Brian Magennis, Maria Grazia Spillantini, Lewis P. Rowland, Killian O'Rourke
Publikováno v:
Brain. 138:3100-3109
Frontotemporal lobar degeneration comprises a group of disorders characterized by behavioural, executive, language impairment and sometimes features of parkinsonism and motor neuron disease. In 1994 we described an Irish-American family with frontote
Autor:
Courtney E French, Isabelle Delon, Alba Sanchis-Juan, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco, Helen Firth, NIHR BioResource – Rare Disease, Next Generation Children Project, David H. Rowitch, F. Lucy Raymond
Publikováno v:
SSRN Electronic Journal.
Background: Each year 95,000 neonates are admitted to intensive care units (ICU) in the UK. With growing evidence that Mendelian diseases present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in IC
Autor:
Courtney E. French, Ricardo Garcia Branco, Lucy Raymond, David H. Rowitch, Topun Austin, Helen Dolling, Isabelle Delon, Alba Sanchis-Juan
Publikováno v:
Critical Care Medicine. 47:380