Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Rhiannon, Mellis"'
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
Autor:
Fionnuala Mone, Rhiannon Mellis, Heinz Gabriel, Caitlin Baptiste, Jessica Giordano, Ronald Wapner, Lyn S. Chitty
Publikováno v:
Mone, F, Mellis, R, Gabriel, H, Baptiste, C, Giordano, J, Wapner, R & Chitty, L S 2023, ' Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis ', American Journal of Obstetrics and Gynecology, vol. 228, no. 4, pp. 409-417.e4 . https://doi.org/10.1016/j.ajog.2022.09.045
ObjectiveThis study aimed to determine the incremental yield of prenatal exome sequencing over chromosomal microarray or G-banding karyotype in fetuses with: (1) intrauterine growth restriction related to placental insufficiency or (2) short long bon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f77be2a9ea4ace71b710925128243b
https://pure.qub.ac.uk/en/publications/5d747ff0-59a6-49c6-a2fc-529db07dceec
https://pure.qub.ac.uk/en/publications/5d747ff0-59a6-49c6-a2fc-529db07dceec
Autor:
Ronald J. Wapner, DB Goldstein, Ruth Y. Eberhardt, Eamonn R. Maher, Kilby, Dominic J. McMullan, JL Giordano, Vimla Aggarwal, Rhiannon Mellis, LS Chitty, Matthew E. Hurles, Susan Hamilton
Publikováno v:
BJOG
OBJECTIVE To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase diagnostic yield. DESIGN Retrospective analysis of data from two prospective cohort studies.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e5f0f2738357711a7d725b169ff575
https://doi.org/10.1111/1471-0528.16869
https://doi.org/10.1111/1471-0528.16869
Autor:
Noeline Nadarajah, Mark D. Kilby, Maja Hempel, Stephanie E. Vallee, Silvia Martin-Almedina, Rhiannon Mellis, Dionysios Grigoriadis, Sarah Robart, Sahar Mansour, Mary Beth Dinulos, Ege Sackey, Giles Atton, Wolf-Henning Becker, Christina Karapouliou, Kazim Ogmen, Fanny Kortuem, Katherine S. Josephs, Gunnar Houge, Cathrine Ebbing, Pia Ostergaard, Kristiana Gordon, Steve Jeffery, Peter S. Mortimer, Jerome L. Gorski, Axel von der Wense, Alexandra Robinson, Cassandra Polun, Siren Berland, Jenny Lord, Hallvard Reigstad, Sherri J. Bale
Publikováno v:
Genetics in Medicine
PurposeSeveral clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85bb601a79f9c38fc8b3b3bf5d3e3c5
https://doi.org/10.1038/s41436-021-01136-7
https://doi.org/10.1038/s41436-021-01136-7
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
Autor:
Natalie J. Chandler, Elizabeth Scotchman, Rhiannon Mellis, Vijaya Ramachandran, Rowenna Roberts, Lyn S. Chitty
Publikováno v:
Prenatal diagnosis. 42(7)
Prenatal exome sequencing (ES) for monogenic disorders in fetuses with structural anomalies increases diagnostic yield. In England there is a national trio ES service delivered from two laboratories. To minimise incidental findings and reduce the num
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99e2c17d671048a5a18157ae56563a2
https://pubmed.ncbi.nlm.nih.gov/35506549
https://pubmed.ncbi.nlm.nih.gov/35506549
Autor:
Caitlin Baptiste, Rhiannon Mellis, Vimla Aggarwal, Jenny Lord, Ruth Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald Wapner, Jessica Giordano, Lyn Chitty
Publikováno v:
Prenatal diagnosisREFERENCES. 42(6)
To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies.We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f5b8a87ed905b7fee0c6eff18e7714
https://pubmed.ncbi.nlm.nih.gov/35411553
https://pubmed.ncbi.nlm.nih.gov/35411553
Publikováno v:
Prenatal diagnosis. 42(6)
We conducted a systematic review and meta-analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.Following electronic searches o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4daf1cface07186ebaee6ca0bd4076ea
https://pubmed.ncbi.nlm.nih.gov/35170059
https://pubmed.ncbi.nlm.nih.gov/35170059