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Akademický článek
‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK
Autor: Diana Baralle, Susan Walker, Ramya Srinivasan, Sarah Davies, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, William Newman, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk
Publikováno v: BMJ Open, Vol 11, Iss 9 (2021)
Objectives This study aimed to explore the experiences of parents caring for children with intellectual and developmental disabilities (IDD) during the UK national lockdown in spring 2020, resulting from the COVID-19 pandemic.Design Participants were
Externí odkaz: https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2
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Non-invasive prenatal diagnosis (NIPD): current and emerging technologies
Autor: Britt Hanson, Ben Paternoster, Nikita Povarnitsyn, Elizabeth Scotchman, Lyn Chitty, Natalie Chandler
Publikováno v: Extracellular Vesicles and Circulating Nucleic Acids. 4:3-26
Prenatal testing is important for the early detection and diagnosis of rare genetic conditions with life-changing implications for the patient and their family. Gaining access to the fetal genotype can be achieved using gold-standard invasive samplin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0c44fbb1ea7cb882119e85eda320b2d4
https://doi.org/10.20517/evcna.2022.44
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Fetal central nervous system anomalies: When should we offer exome sequencing?
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
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Contributors
Autor: Robin Abel, Steven H. Abman, Eric Alton, Daniel R. Ambruso, William Carl Anderson, Karthik Balakrishnan, Ian Michael Balfour-Lynn, Anna Bamford, Ronen Bar-Yoseph, Erika Berman-Rosenzweig, Deepika Bhatla, Joshua A. Blatter, R. Paul Boesch, Matias Bruzoni, Andrew Bush, Michael Bye, Kai Håkon Carlsen, Anne B. Chang, Stephanie D. Chao, Michelle Chatwin, Bimal Pankaj Chaudhari, Lyn Chitty, Nicola Collins, Dan M. Cooper, Jonathan Corren, Robin T. Cotton, Andrea Coverstone, Suzanne Crowley, Steve Cunningham, Garry R. Cutting, Dorottya Czovek, Charles L. Daley, Gwyneth Davies, Jane C. Davies, Alessandro de Alarcòn, Emily M. DeBoer, Marietta Morales De Guzman, Sharon D. Dell, Robin Deterding, Gail H. Deutsch, Sunalene Devadason, William Graham Fox Ditcham, Jill Dorsey, Francine M. Ducharme, John Engelhardt, Mark L. Everard, Leland L. Fan, Albert Faro, Thomas Ferkol, Louise Fleming, Angela Mary Fonceca, Hammad A. Ganatra, Amy Michelle Garcia, David Gozal, Diane Gray, Anne Greenough, Uta Griesenbach, Jonathan Grigg, James S. Hagood, Jürg Hammer, Aaron Hamvas, Jonny Harcourt, Pia J. Hauk, Ulrich Heininger, Alexander John Henderson, Marianna M. Henry, Richard J. Hewitt, Heather Young Highsmith, Noah H. Hillman, Heather Ellen Hoch, Jeong S. Hyun, Mas Suhaila Isa, Adam Jaffé, Lance C. Jennings, Alan H. Jobe, Ankur A. Kamdar, Bhushan Katira, Brian P. Kavanagh, James Kemp, Carolyn M. Kercsmar, Leila Kheirandish-Gozal, Wilson King, Paul Kingma, Jennifer Knight-Madden, Alan Paul Knutsen, Alik Kornecki, Usha Krishnan, Geoffrey Kurland, Hugh Simon Lam, Claire Langston, Ada Lee, Margaret W. Leigh, Daniel Lesser, Clare M. Lloyd, Anna Maria Mandalakas, Paulo J.C. Marostica, Stacey L. Martiniano, Jennifer Maybee, Karen M. McDowell, Peter Michelson, Aaron Samuel Miller, Claire Kane Miller, Ayesha Mirza, David R. Murdoch, Christopher J.L. Newth, Andrew Gordon Nicholson, Jerry A. Nick, Christina J. Nicolais, Terry L. Noah, Lawrence M. Nogee, Blakeslee Noyes, Andrew H. Numa, Ann-Christine Nyquist, Hugh O'Brodovich, Matthias Ochs, J. Tod Olin, Øystein Olsen, Catherine Owens, Howard B. Panitch, Hans Pasterkamp, Donald Payne, Scott Pentiuk, Jeremy Prager, Jean-Paul Praud, Andrew P. Prayle, Bernadette Prentice, Philip E. Putnam, Alexandra L. Quittner, Shlomit Radom-Aizik, Suchitra Rao, Mobeen Rathore, Gregory J. Redding, Michael Rutter, Estefany Saez-Flores, Sejal Saglani, Rayfel Schneider, Kenneth O. Schowengerdt, Marcelo C. Scotta, Thomas Semple, Laurie Sherlock, Ram N. Singh, Raymond G. Slavin, Peter Sly, Bjarne Smevik, Keely Garrett Smith, Jonathan Spahr, James M. Stark, Jeffrey R. Starke, Renato T. Stein, Paul C. Stillwell, Dennis C. Stokes, Daniel T. Swarr, Stuart Charles Sweet, Stanley James Szefler, Paul Tambyah, Christelle Xian-Ting Tan, James Temprano, Chad M. Thorson, Bruce C. Trapnell, Brian Michael Varisco, Timothy J. Vece, Harish G. Vyas, Ruth Wakeman, Colin Wallis, Jennifer Wambach, Daniel J. Weiner, Anja M. Werno, Susan E. Wert, Jeffrey A. Whitsett, Robert William Wilmott, Robert E. Wood, Christopher Todd Wootten, Marie Wright, Sarah Wright, Rae S.M. Yeung, Takeshi Yoshida, Carolyn Young, Lisa R. Young, Heather J. Zar, Pamela Leslie Zeitlin, David Zielinski
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::34d96ab4068e695d68baf2fc1b6f5cab
https://doi.org/10.1016/b978-0-323-44887-1.00085-7
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Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected]
Autor: Heather, Skirton, Lesley, Goldsmith, Leigh, Jackson, Celine, Lewis, Lyn, Chitty
Publikováno v: European journal of human genetics : EJHG. 22(5)
For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6fae73fa9b1fb1f88d554001755ff3e3
https://pubmed.ncbi.nlm.nih.gov/24022298
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Prospective parental consent for autopsy research following sudden unexpected childhood deaths: a successful model
Autor: Sudhin Thayyil, Andrew Taylor, Neil Sebire, Silvia Schievano, Andrew Cook, Enrico De Vita, Lyn Chitty, Amaka Offiah
Publikováno v: Archives of disease in childhood. 94(5)
Background: Pessimism regarding prospectively consented paediatric autopsy research in the UK has resulted from organ retention controversies, recent changes in the Coroners9 (Amendment) Rules 2005 and the Human Tissue Act. Objectives: To examine the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e399e8ebacde69c108fc61d2dd66985a
https://pubmed.ncbi.nlm.nih.gov/19282335
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