Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Crystle Lee"'
Autor:
John Christodoulou, Christopher Gyngell, Stephanie Best, Clara Gaff, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Lilian Downie, Sebastian Lunke, David J Amor, Alison Yeung, Simon Sadedin, Fiona Lynch, Sophie E Bouffler, Danya F Vears, Jade Caruana, Alison Archibald, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Riccarda Peters, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall
Publikováno v:
BMJ Open, Vol 14, Iss 4 (2024)
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes inc
Externí odkaz:
https://doaj.org/article/1ec6b926ff6c4aefb989eebe1d307a84
Autor:
Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
Abstract Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist i
Externí odkaz:
https://doaj.org/article/b096ed78eb604ff08a47d2a4cab9b501
Autor:
Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls
Publikováno v:
Am J Hum Genet
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Ha
Autor:
Fathimath Faiz, Kenneth Tan, Ilias Goranitis, Amanda Springer, Crystle Lee, Emma I. Krzesinski, Andrew Fennell, David S. Francis, Zornitza Stark, Sandra T. Cooper, Matthew F. Hunter, Katherine Rose, Sebastian Lunke, Mark R. Davis, Lauren S. Akesson, John Christodoulou, Adam Bournazos
Publikováno v:
Human Mutation. 41:1884-1891
Rapid genomic diagnosis programs are transforming rare disease diagnosis in acute pediatrics. A ventilated newborn with cerebellar hypoplasia underwent rapid exome sequencing (75 h), identifying a novel homozygous ASNS splice-site variant (NM_133436.
Autor:
Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
Publikováno v:
JIMD reports. 63(3)
Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist in variant
Autor:
Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet
International audience; The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an auto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646
http://hdl.handle.net/2318/1789646
Autor:
David Kronn, Akemi J. Tanaka, Stefan Mundlos, Jennifer Norman, Crystle Lee, Delphine Héron, Elena L. Dadali, Anna Mikhaleva, Tomoko Uehara, Alexander Lavrov, Kenjiro Kosaki, Cecilie F. Rustad, Victoria R. Sanders, Heidi Taska-Tench, Ganka Douglas, Boris Keren, Nicolas Chatron, Ennio Del Giudice, E. Martina Bebin, Julien Delafontaine, Wendy K. Chung, Susan M. Hiatt, Olga Levchenko, Nicolas Guex, Jane Juusola, Tara Funari, Rhonda E. Schnur, Caroline Nava, Giuliana Giannuzzi, Binnaz Yalcin, Gregory M. Cooper, Dawn L. Earl, Sofia Douzgou, Kristian Tveten, Anna C.E. Hurst, Gerarda Cappuccio, Joel Charrow, Sinje Geuer, Alexandre Reymond, David J. Amor, Elin Tønne, Norine Voisin, Natasha J Brown, Alfredo Brusco, Dian Donnai, Giuseppina Vitiello, Sylvain Pradervand, Nicola Brunetti-Pierri, Else Merckoll, Fabio Sirchia, Toshiki Takenouchi, Øystein L. Holla
The ALF transcription factor paralogs,AFF1, AFF2, AFF3andAFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe a new autosomal dominant disorder a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce7ca05307e1b5513c5cab9995b2e4
https://doi.org/10.1101/693937
https://doi.org/10.1101/693937
Autor:
Matthew F. Hunter, Zornitza Stark, Andrew Fennell, Sandra T. Cooper, Ilias Goranitis, Adam Bournazos, Sebastian Lunke, Crystle Lee, Emma I. Krzesinski, David S. Francis, Katherine Rose, John Christodoulou, Kenneth Tan, Amanda Springer, Lauren S. Akesson
Publikováno v:
Pathology. 52:S106