Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Ingrid, Scheffer"'
Autor:
Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adu
Externí odkaz:
https://doaj.org/article/3db51aa91e4d4222a42db0a751cb4260
Autor:
Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C., Robinson, Olivia, Gardner, Alison, Ritchie, Tarin, Kroes, Thessa, Scheffer, Ingrid E., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Cooper, Sandra T.
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Autor:
Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods The FOXG1 syndrome online patient registry
Externí odkaz:
https://doaj.org/article/3b64a88bf2e4498fa667eb61c8835c14
Autor:
Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101201- (2024)
Externí odkaz:
https://doaj.org/article/0dc5befeb4cf4ec2b4d482f19074447e
Autor:
Ingrid Scheffer
Publikováno v:
Epilepsia. 64:1348-1350
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::940848713fc40e5d6e96c703689c04e3
https://doi.org/10.1111/epi.17562
https://doi.org/10.1111/epi.17562
Autor:
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J. Brown, Kate Pope, Cherie C. Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Sp
Externí odkaz:
https://doaj.org/article/7d85cf9b4a764a35955099983a2154e6
Autor:
Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1
https://doi.org/10.21203/rs.3.rs-2041176/v1
Publikováno v:
Annals of clinical and translational neurologyReferences. 9(12)
Anti-seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium-channel blocker phenytoin, which is often used for status epilepticus, a frequent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3819a0aba2734ede2474426b6650bb1a
https://pubmed.ncbi.nlm.nih.gov/36314457
https://pubmed.ncbi.nlm.nih.gov/36314457
Autor:
Ingrid Scheffer
Publikováno v:
The Lancet Neurology. 21:111-113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d37ee0ced9681454bae4d2f5f56d2c
https://doi.org/10.1016/s1474-4422(22)00002-3
https://doi.org/10.1016/s1474-4422(22)00002-3
Autor:
Ingrid Scheffer, Samuel Berkovic, Lynette Sadleir, Anthony Marson, Andrew Allen, Terence O'Brien, Heidi Kirsch, Kristen Park
Publikováno v:
Epilepsia. 62:973-983
Objective We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy. Methods We enrolled participants with polymicrogyria and their parents
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604d75eef70401bdd2ccfb65d252b12c
https://doi.org/10.1111/epi.16854
https://doi.org/10.1111/epi.16854