Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Dagmar, Tapon"'
Autor:
Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Rhiannon Mellis, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionPrenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite
Externí odkaz:
https://doaj.org/article/1a67f11223b94bd2a89072f49c95ec47
Autor:
Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionIn October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. Th
Externí odkaz:
https://doaj.org/article/6dc8f4f638a84583ae1fa43934c939d4
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
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
Autor:
Rhiannon Mellis, Dagmar Tapon, Nora Shannon, Esther Dempsey, Pranav Pandya, Lyn S. Chitty, Melissa Hill
OBJECTIVES: Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, conce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd8240388d2cbf552de68aa13abcae6a
Publikováno v:
Prenatal diagnosis. 42(1)
OBJECTIVE To identify what online patient information (presented in English) is available to parents about prenatal microarray (CMA) and exome sequencing (ES), and evaluate its content, quality, and readability. METHOD Systematic searches (Google and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86452da51cd61743e05c8fe5ba56ef80
https://pubmed.ncbi.nlm.nih.gov/34747021
https://pubmed.ncbi.nlm.nih.gov/34747021
Autor:
Jenny, Lord, Dominic J, McMullan, Ruth Y, Eberhardt, Gabriele, Rinck, Susan J, Hamilton, Elizabeth, Quinlan-Jones, Elena, Prigmore, Rebecca, Keelagher, Sunayna K, Best, Georgina K, Carey, Rhiannon, Mellis, Sarah, Robart, Ian R, Berry, Kate E, Chandler, Deirdre, Cilliers, Lara, Cresswell, Sandra L, Edwards, Carol, Gardiner, Alex, Henderson, Simon T, Holden, Tessa, Homfray, Tracy, Lester, Rebecca A, Lewis, Ruth, Newbury-Ecob, Katrina, Prescott, Oliver W, Quarrell, Simon C, Ramsden, Eileen, Roberts, Dagmar, Tapon, Madeleine J, Tooley, Pradeep C, Vasudevan, Astrid P, Weber, Diana G, Wellesley, Paul, Westwood, Helen, White, Michael, Parker, Denise, Williams, Lucy, Jenkins, Richard H, Scott, Mark D, Kilby, Lyn S, Chitty, Matthew E, Hurles, Eamonn R, Maher, Elizabeth, Wilson
Publikováno v:
Prenatal Diagnosis
Lancet (London, England)
Lancet (London, England)
Background Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128f07aba6242d5632b16539941083e5
https://doi.org/10.1530/ey.16.14.14
https://doi.org/10.1530/ey.16.14.14
Autor:
Kathy Mann, Dagmar Tapon, Anna Lawin O’Brien, Richard Ellis, Christoph Lees, Joo Wook Ahn, Caroline Mackie Ogilvie, Andrea Dall'Asta
Publikováno v:
Prenatal Diagnosis. 36:708-713
Background Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1aaf353f342f2a3840ad741e03f7bbb2
https://doi.org/10.1002/pd.4843
https://doi.org/10.1002/pd.4843
Autor:
Lyn S. Chitty, Dagmar Tapon, Sahar Mansour, Jane Hayward, Catherine DeVile, Sunayna Best, Francesca Faravelli, Natalie Chandler, Emma Kivuva, Alison Male
Publikováno v:
Genetics in Medicine
Purpose\ud Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision makin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5638184604a2b1f9814a6a13d8f266d1
https://openaccess.sgul.ac.uk/id/eprint/110081/1/gim201830.pdf
https://openaccess.sgul.ac.uk/id/eprint/110081/1/gim201830.pdf
Autor:
Anne V. Hing, Sarah K. Holman, Timothy R. Morgan, Valérie Cormier-Daire, Melissa Lees, Joy Samanich, Tae Joon Cho, Hanne Hove, Dagmar Tapon, Geneviève Baujat, Raoul C.M. Hennekam, Stephen P. Robertson
Publikováno v:
Clinical Genetics. 83:251-256
Osteopathia striata congenita with cranial sclerosis (OSCS) is a skeletal dysplasia caused by germline deletions of or truncating point mutations in the X-linked gene WTX (FAM123B, AMER1). Females present with longitudinal striations of sclerotic bon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::522b91f51867c65a6bf428e522c0aa58
https://doi.org/10.1111/j.1399-0004.2012.01905.x
https://doi.org/10.1111/j.1399-0004.2012.01905.x
Autor:
Anna, Lawin O'Brien, Andrea, Dall'Asta, Dagmar, Tapon, Kathy, Mann, Joo Wook, Ahn, Richard, Ellis, Caroline, Ogilvie, Christoph, Lees
Publikováno v:
Prenatal diagnosis. 36(8)
Few data exist describing laboratory related failure rates in prenatal diagnosis. The aim of this study is to assess the laboratory associated failure rate for karyotype, QF-PCR and CGH-array following amniocentesis in relation to gestation.Retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e42bb0878d630c71a8e3c6b44a11a18
https://pubmed.ncbi.nlm.nih.gov/27192044
https://pubmed.ncbi.nlm.nih.gov/27192044