Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jason, Carmichael"'
Autor:
Calixto-Hope G. Lucas, Emily A. Sloan, Rohit Gupta, Jasper Wu, Drew Pratt, Harish N. Vasudevan, Ajay Ravindranathan, Jairo Barreto, Erik A. Williams, Anny Shai, Nicholas S. Whipple, Carol S. Bruggers, Ossama Maher, Burt Nabors, Michael Rodriguez, David Samuel, Melandee Brown, Jason Carmichael, Rufei Lu, Kanish Mirchia, Daniel V. Sullivan, Melike Pekmezci, Tarik Tihan, Andrew W. Bollen, Arie Perry, Anuradha Banerjee, Sabine Mueller, Nalin Gupta, Shawn L. Hervey-Jumper, Nancy Ann Oberheim Bush, Mariza Daras, Jennie W. Taylor, Nicholas A. Butowski, John de Groot, Jennifer L. Clarke, David R. Raleigh, Joseph F. Costello, Joanna J. Phillips, Alyssa T. Reddy, Susan M. Chang, Mitchel S. Berger, David A. Solomon
Publikováno v:
Acta Neuropathologica. 144:747-765
Gliomas arising in the setting of neurofibromatosis type 1 (NF1) are heterogeneous, occurring from childhood through adulthood, can be histologically low-grade or high-grade, and follow an indolent or aggressive clinical course. Comprehensive profili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d9443b332541d26f7f773096d51b660
https://doi.org/10.1007/s00401-022-02478-5
https://doi.org/10.1007/s00401-022-02478-5
Autor:
Suellen Jackson, Rebecca Freeman, Adriana Noronha, Hafsah Jamil, Eric Chavez, Jason Carmichael, Kaylee M. Ruiz, Christine Miller, Sarah Benke, Rosalie Perrot, Maryam Hockley, Kady Murphy, Aimiel Casillan, Lily Radanovich, Roger Deforest, Mark E. Nunes, Richard Sidlow, Yaron Einhorn, Jeremy Woods
Introduction Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Methods Genetic variants from all genetic testing resulting to a large pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8a9d31c97a483ce7104ee438711291f
https://doi.org/10.21203/rs.3.rs-2913380/v1
https://doi.org/10.21203/rs.3.rs-2913380/v1
Autor:
Carolina I. Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G. Tise, Annie D. Niehaus, Alison J. Schildt, Courtney P. Verscaj, Kristina P. Cusmano‐Ozog
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::901584afa19eab112d4083f7f55c8c03
https://doi.org/10.1002/ajmg.a.63234
https://doi.org/10.1002/ajmg.a.63234
Autor:
Camille Kumps, Heather Paterson, Benoît Funalot, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Robin Clark, Elliott H. Sherr, Marion Gérard, Jasmine L.F. Fung, Emanuela Argilli, Megan E. Rech, Antonio Vitobello, Christian Netzer, Christian P. Schaaf, Coranne D. Aarts-Tesselaar, Angela Abicht, Lennart Lessmeier, Brian H.Y. Chung, Anne-Sophie Denommé-Pichon, Jason Carmichael, Frédéric Tran Mau-Them, Andrea Superti-Furga, Marion Aubert Mucca, Marcus Cy Chan, Nicolas Chassaing, Christine Coubes, Anne H. O’Donnell-Luria, Lynn Pais, Colleen Kennedy, Daphné Lehalle, Maries Joseph, Kathleen A. Leppig, Florian Erger, John Karl de Dios, Lance H. Rodan, Marjolaine Willems, Subhadra Ramanathan, Clara Velmans, Eleina M. England
Publikováno v:
Journal of Medical Genetics, 59(7), 697-705. BMJ Publishing Group
Journal of medical genetics, vol 59, iss 7
J Med Genet
Journal of medical genetics, vol 59, iss 7
J Med Genet
BackgroundO’Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O’Donnell-Luria et al in 2019 in a cohort of 38 patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c510a325c2e94649d338b1b96fa5aa
https://pure.eur.nl/en/publications/7515de9f-5d35-478d-96af-39ac71c0a1a3
https://pure.eur.nl/en/publications/7515de9f-5d35-478d-96af-39ac71c0a1a3
Publikováno v:
Neuroscience & Biobehavioral Reviews. 130:107-124
The field of genomics is the principal avenue in the ongoing development of precision/personalised medicine for a variety of health conditions. However, relating genes to outcomes is notoriously complex, especially when considering that other variabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519009fb389ae2868924e0d49e36543a
https://doi.org/10.1016/j.neubiorev.2021.08.015
https://doi.org/10.1016/j.neubiorev.2021.08.015
Autor:
Christina Ashburner, Arthur D’Harlingue, Rosanna Spicer, Suma P. Shankar, Shimul Chowdhury, Juliette Hunt, David Dimmock, Katarzyna A. Ellsworth, Neda Zadeh, Bryce Waldman, Lauge Farnaes, Wendy Benson, Madelena Martin, Jason Knight, Sara A. Caylor, Ofelia Vargas-Shiraishi, Aaina Kochhar, Mario Augusto Rojas, Charlotte A. Hobbs, Priscilla Joe, Katherine A. Rauen, Maries Joseph, Kathleen Houtchens, Richard Kronick, Ami Doshi, Adam Schwarz, Stephen F. Kingsmore, Carolina I. Galarreta, Jason Carmichael, Jolie Limon, Elaine Cham, Robert H. Kaplan, Jeanne Carroll, Kristen Wigby, John P. Cleary
Publikováno v:
American journal of human genetics, vol 108, iss 7
Am J Hum Genet
Am J Hum Genet
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a195984a6ab40c8a7ab4e62f2b4ffada
https://doi.org/10.1016/j.ajhg.2021.05.008
https://doi.org/10.1016/j.ajhg.2021.05.008
Autor:
Calixto-Hope G, Lucas, Emily A, Sloan, Rohit, Gupta, Jasper, Wu, Drew, Pratt, Harish N, Vasudevan, Ajay, Ravindranathan, Jairo, Barreto, Erik A, Williams, Anny, Shai, Nicholas S, Whipple, Carol S, Bruggers, Ossama, Maher, Burt, Nabors, Michael, Rodriguez, David, Samuel, Melandee, Brown, Jason, Carmichael, Rufei, Lu, Kanish, Mirchia, Daniel V, Sullivan, Melike, Pekmezci, Tarik, Tihan, Andrew W, Bollen, Arie, Perry, Anuradha, Banerjee, Sabine, Mueller, Nalin, Gupta, Shawn L, Hervey-Jumper, Nancy Ann, Oberheim Bush, Mariza, Daras, Jennie W, Taylor, Nicholas A, Butowski, John, de Groot, Jennifer L, Clarke, David R, Raleigh, Joseph F, Costello, Joanna J, Phillips, Alyssa T, Reddy, Susan M, Chang, Mitchel S, Berger, David A, Solomon
Publikováno v:
Acta neuropathologica. 144(4)
Gliomas arising in the setting of neurofibromatosis type 1 (NF1) are heterogeneous, occurring from childhood through adulthood, can be histologically low-grade or high-grade, and follow an indolent or aggressive clinical course. Comprehensive profili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::abcbc5d8120aed0215200aae52828ce2
https://pubmed.ncbi.nlm.nih.gov/35945463
https://pubmed.ncbi.nlm.nih.gov/35945463
Autor:
Jennie Ponsford, Timothy J. Feeney, Jai Jason Carmichael, Penelope Analytis, Amelia J. Hicks, Kate Rachel Gould
Publikováno v:
Brain Impairment. 22:34-49
Objectives:Individuals with acquired brain injury (ABI) may present with challenging behaviours (CB) that place themselves and others at risk of harm and impact their community integration. It is crucial for community ABI therapists to successfully t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4332865ed416eb445c719129a5934a8
https://doi.org/10.1017/brimp.2020.6
https://doi.org/10.1017/brimp.2020.6
Publikováno v:
Brain Impairment. 21:191-207
Objective:Individuals with acquired brain injury (ABI) may experience persistent and distressing challenging behaviours (CB), and therefore, effective delivery of behaviour interventions is crucial. This study aimed to investigate community ABI thera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc6797efa3440e49af5caec8afc6939
https://doi.org/10.1017/brimp.2019.32
https://doi.org/10.1017/brimp.2019.32
Publikováno v:
Journal of Visual Communication in Medicine. 42:102-113
Knowledge gaps exist regarding how to best educate audiences about concussion. Knowledge translation (KT) plays a critical role in how information is shared. In the field of concussion, infographics are becoming a popular KT strategy for synthesising
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5d43db7370b98893720b2c9a3b4a6f9
https://doi.org/10.1080/17453054.2019.1599683
https://doi.org/10.1080/17453054.2019.1599683