Zobrazeno 1 - 10
of 193
pro vyhledávání: '"S. Josephs"'
Autor:
Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R. A. Thomas, Sarah Ennis, Angharad M. Roberts, James S. Ware
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-22 (2024)
Abstract Background Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond convent
Externí odkaz:
https://doaj.org/article/b985ecbe203c455f8e325fbb9ff526b4
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M McNally, Daniel P Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S Ware
BackgroundAs availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited card
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502d4033679b4a938e71105a442ecd3f
https://doi.org/10.1101/2023.04.03.23287612
https://doi.org/10.1101/2023.04.03.23287612
Autor:
Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware
PURPOSEThe terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3
https://doi.org/10.1101/2023.03.30.23287948
https://doi.org/10.1101/2023.03.30.23287948
Akademický článek
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Akademický článek
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Autor:
Munaza Ahmed, Dara Vakili, Li Shan Guillemot, Angela F. Brady, Sabrina Talukdar, Monisha Shanmugasundaram, Shevaun Ey, Sinead Whyte, Katherine S Josephs, Louise Izatt, Alice Garrett
Publikováno v:
Journal of Medical Genetics. 59:554-558
BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97d75f0798cb7d4b3058d5cc4ed17fb2
https://doi.org/10.1136/jmedgenet-2021-107742
https://doi.org/10.1136/jmedgenet-2021-107742
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
Akademický článek
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Publikováno v:
Anaesth Rep
Though ilio‐inguinal nerve block has been commonly utilised in male urologic surgery, a single injection ilio‐inguinal nerve block alone has not previously been reported for analgesia of the vulva. In this report, we describe the case of a 14‐y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723774ea290b5fde5d6c9cc5b438c165
https://doi.org/10.1002/anr3.12069
https://doi.org/10.1002/anr3.12069