Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Kira A. Dies"'
Autor:
Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 32-46 (2022)
Interest in gene-based therapies for neurodevelopmental disorders is increasing exponentially, driven by the rise in recognition of underlying genetic etiology, progress in genomic technology, and recent proof of concept in several disorders. The cur
Externí odkaz:
https://doaj.org/article/b06707dc5eda41d08b9202717d7435f6
Autor:
Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, Paul Avillach
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-8 (2022)
Abstract Background Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing,
Externí odkaz:
https://doaj.org/article/073fec6cc62f415fa02521360854397b
Autor:
Antonio Y. Hardan, Booil Jo, Thomas W. Frazier, Patricia Klaas, Robyn M. Busch, Kira A. Dies, Rajna Filip-Dhima, Anne V. Snow, Charis Eng, Rabi Hanna, Bo Zhang, Mustafa Sahin
Publikováno v:
Contemporary Clinical Trials Communications, Vol 21, Iss , Pp 100733- (2021)
This randomized, double-blind controlled trial of everolimus in individuals with germline phosphatase and tensin homolog mutations (PTEN) was designed to evaluate the safety of everolimus compared with placebo and to evaluate the efficacy of everolim
Externí odkaz:
https://doaj.org/article/7f7f2e0c14c0453cb07c525e57903175
Publikováno v:
Therapeutic Advances in Rare Disease. 4:263300402311644
Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community. Motivated by patient need, PAGs are increasingly at the forefront of policy, r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b620be676b847d7e36a904b151a2efe1
https://doi.org/10.1177/26330040231164425
https://doi.org/10.1177/26330040231164425
Autor:
Siddharth, Srivastava, Booil, Jo, Bo, Zhang, Thomas, Frazier, Anne Snow, Gallagher, Fleming, Peck, April R, Levin, Sangeeta, Mondal, Zetan, Li, Rajna, Filip-Dhima, Gregory, Geisel, Kira A, Dies, Amelia, Diplock, Charis, Eng, Rabi, Hanna, Mustafa, Sahin, Antonio, Hardan
Publikováno v:
Human molecular genetics. 31(20)
PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelopmental disorder characterized by mechanistic target of rapamycin (mTOR) overactivity. Limited data suggest that mTOR inhibitors may be therapeutic. No placebo-controlled studies have exami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1593efacfe1386fe5d4d92fba3efc4a4
https://pubmed.ncbi.nlm.nih.gov/35594551
https://pubmed.ncbi.nlm.nih.gov/35594551
Autor:
Benoit Scherrer, Ellen Hanson, Donna S. Murray, Mustafa Sahin, Sarah O'Kelley, Steven L. Roberds, Rajna Filip-Dhima, Shaun A. Hussain, Kira A. Dies, Nicole M. Bing, Stephanie Bruns, Darcy A. Krueger, E. Martina Bebin, Jurriaan M. Peters, Ernst W. Schmid, Deborah A. Pearson, Marian E. Williams, Monisha Goyal, Hope Northrup, Joyce Y. Wu, Gary Cutter, Bridget Kent
Publikováno v:
Epilepsy Research. 148:1-7
After initially successful treatment of infantile spasms, the long-term cumulative risk of relapse approaches 50%, and there is no established protocol to mitigate this risk. Although vigabatrin may be an effective means to prevent relapse, there is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350561bdf821b9799ae3a73ace9d3640
https://doi.org/10.1016/j.eplepsyres.2018.09.016
https://doi.org/10.1016/j.eplepsyres.2018.09.016
Autor:
Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, Paul Avillach
Publikováno v:
Journal of neurodevelopmental disorders. 14(1)
Background Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54083b84903e1f09e63f50234bd2b1a
https://pubmed.ncbi.nlm.nih.gov/35321655
https://pubmed.ncbi.nlm.nih.gov/35321655
Autor:
Kristina Fredriksen, Charles B. Berde, Jai Vaze, Susan E. Waisbren, Lauren E. Black, Christelle Moufawad El Achkar, Julie Douville, Bobbie L. Riley, Jaejoon Choi, Alan H. Beggs, Pankaj B. Agrawal, Iva Stojkovska, Stephen Chu, Nandkishore R. Belur, Austin Larson, David K. Urion, Renata L. DiDonato, Richard O. Snyder, Emily Berry, Eunjung Lee, Al Patterson, Kelly A. Pflock, Brenda Barton, Sara F. Goldkind, Jinkuk Kim, Laura Cornelissen, Timothy W. Yu, P. Ellen Grant, Mary K. Pendergast, Chunguang Hu, Benjamin D. Goodlett, Lucinda Williams, Aubrie Soucy, Kimberly Tyndall, Myriam Armant, Erika F. Augustine, Olaf Bodamer, Ashley Kuniholm, Luis M. Pereira, Chantal Reed, Alessandra Biffi, Kira A. Dies, Amy Pasternak, Casie A. Genetti, Annapurna Poduri, Alla V. Tsytsykova, Joseph R. Mazzulli, Peter J. Park
Publikováno v:
N Engl J Med
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19381104d0ffe14b9de184a4638dda48
https://doi.org/10.1530/ey.17.14.8
https://doi.org/10.1530/ey.17.14.8
Autor:
Sarah O'Kelley, Ellen Hanson, Kira A. Dies, Benoit Scherrer, Stephanie Bruns, Simon K. Warfield, Leslie E. Grayson, Brenda E. Porter, Jeffrey P. Blount, Jurriaan M. Peters, Nicole M. Bing, Jamie K. Capal, Jessica Krefting, Monisha Goyal, Donna S. Murray, Mustafa Sahin, Rajna Filip-Dhima, E. Martina Bebin, Aria Fallah, Darcy A. Krueger, Deborah A. Pearson, Steven L. Roberds, Hope Northrup, Marian E. Williams, Joyce Y. Wu, Gary Cutter, Joseph R. Madsen, Bridget Kent, Howard L. Weiner, Scellig S D Stone, Tarrant McPherson
Publikováno v:
Pediatr Neurol
Background To determine if early epilepsy surgery mitigates detrimental effects of refractory epilepsy on development, we investigated surgical and neurodevelopmental outcomes in children with tuberous sclerosis complex who underwent surgery before a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050b618f1991089e34c1eb460c103473
https://pubmed.ncbi.nlm.nih.gov/32418847
https://pubmed.ncbi.nlm.nih.gov/32418847
Autor:
Peter Szatmari, Mayada Elsabbagh, Wendy K. Chung, Helen V. Firth, Ny Hoang, Jacques L. Michaud, Catalina Betancur, Janet A. Buchanan, Jennifer L. Howe, Jacob A. S. Vorstman, Louise Gallagher, Christian P. Schaaf, Edwin H. Cook, Joseph D. Buxbaum, Kira A. Dies, Olivia Rennie, Stephen W. Scherer, Raphael Bernier, Jeremy R. Parr, Ryan K. C. Yuen, Patrick Bolton, Thomas W. Frazier, Christian R. Marshall, Chun-An Chen, David Skuse
Publikováno v:
Nature Reviews Genetics
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
International audience; Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e1ff1c53dc4ec82391729e2fb08a0fe
https://www.hal.inserm.fr/inserm-03133319/document
https://www.hal.inserm.fr/inserm-03133319/document
