Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Daniela Del Gaudio"'
Autor:
Gregory W. Roloff, Satyajit Kosuri, Mariam T. Nawas, Adam S. DuVall, Anand A. Patel, Peter A. Riedell, Olatoyosi Odenike, Wendy Stock, Richard A. Larson, Michael R. Bishop, Emma Nunley, Lucy A. Godley, Feighanne Hathaway, Daniela del Gaudio, Soma Das, Lorraine E. Canham, Michael W. Drazer
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Not available.
Externí odkaz:
https://doaj.org/article/3109a98b0447457f96ddf0342244491f
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Frank J Probst, Rebecca R Corrigan, Daniela Del Gaudio, Andrew P Salinger, Isabel Lorenzo, Simon S Gao, Ilene Chiu, Anping Xia, John S Oghalai, Monica J Justice
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80408 (2013)
The study of mouse hearing impairment mutants has led to the identification of a number of human hearing impairment genes and has greatly furthered our understanding of the physiology of hearing. The novel mouse mutant neurological/sensory 5 (nse5) d
Externí odkaz:
https://doaj.org/article/cf3a1dbd43a144ffa7651cc5a3fab92d
Autor:
Jianming Shao, Lei Gao, Marco L. Leung, Bailey Gallinger, Cara Inglese, M. Stephen Meyn, Daniela Del Gaudio, Soma Das, Zejuan Li
Publikováno v:
Hematological Oncology. 40:475-478
To investigate germline predisposition in lymphoma, we performed whole-exome sequencing and discovered a novel variant (c.817-1GT) in programmed cell death 1 ligand 2 (PD-L2) in a family with early-onset lymphomas and other cancers. The variant was p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d7082031eef7ef0e13d93c1ff229b5
https://doi.org/10.1002/hon.3033
https://doi.org/10.1002/hon.3033
Autor:
Owen D. Mitchell, Katie Gilliam, Daniela del Gaudio, Kelsey E. McNeely, Shaili Smith, Maria Acevedo, Meghana Gaduraju, Rachel Hodge, Aubrianna S.S. Ramsland, Jeremy Segal, Soma Das, Darren S. Bryan, Sanjukta Tawde, Shelly Galasinski, Peng Wang, Melissa Y. Tjota, Aliya N. Husain, Samuel Armato, Jessica Donington, Mark K. Ferguson, Kiran Turaga, Jane E. Churpek, Hedy L. Kindler, Michael W. Drazer
Structured AbstractImportancePatients with mesothelioma often have next generation sequencing (NGS) of their tumor. Tumor-only NGS may incidentally identify germline pathogenic or likely pathogenic (P/LP) variants despite not being designed for this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98d1f80326066df9e90aa89a7e2548c1
https://doi.org/10.1101/2022.12.06.22282680
https://doi.org/10.1101/2022.12.06.22282680
Autor:
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
https://doi.org/10.1101/2022.09.21.22279949
Autor:
Ulla Wartiovaara-Kautto, Ulrich Germing, Hari Prasanna Subramanian, Tara Cronin, Gudrun Goehring, Elizabeth A. Griffiths, Guimin Gao, Eunice S. Wang, Mary Claire King, Simone Feurstein, Carolyn Owen, Thomas Schroeder, Brigitte Schlegelberger, Outi Kilpivaara, Marja Hakkarainen, Torsten Haferlach, Divij Verma, Felicitas Thol, Stefanie Geyh, Hartmut Döhner, Colin C. Pritchard, Sioban Keel, Juehua Gao, Zejuan Li, Tom Walsh, Daniela S. Krause, Suleyman Gulsuner, Michael Heuser, Lucy A. Godley, Daniela del Gaudio, Ming Lee, Jane E. Churpek, Konstanze Döhner, Soma Das, Christian Pohlkamp
Publikováno v:
Leukemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decc2783192df4f187c197ea5387d31
https://doi.org/10.1038/s41375-021-01137-0
https://doi.org/10.1038/s41375-021-01137-0
Autor:
Maria Helgeson, Hari Prasanna Subramanian, Alexander F. Gileta, Louise C. Pyle, Colin P. Hawkes, Kelly Arndt, Jacqueline Leonard, Daniela del Gaudio
Publikováno v:
Am J Med Genet A
The semaphorin protein family is a diverse set of extracellular signaling proteins that perform fundamental roles in the development and operation of numerous biological systems, notably the nervous, musculoskeletal, cardiovascular, endocrine, and re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e8da37aa74778b0c960be864b82707
https://doi.org/10.1002/ajmg.a.62023
https://doi.org/10.1002/ajmg.a.62023
Autor:
Sylvia A. Huisman, Fanny Mochel, Christel Depienne, Roberto Canitano, Sara S. Cathey, Kimberly Nugent, Konrad Platzer, Katherine L. Helbig, Deepali N. Shinde, Diego Lopergolo, Sandra Yang, Francesca Mari, Astrid S. Plomp, Berten Ceulemans, Sarah Weckhuysen, Agnès Rastetter, Nadja Ehmke, Julien Thevenon, Rami Abou Jamra, Elisa Benetti, Daniela del Gaudio, Elizabeth Roeder, Darrel Waggoner, Raymond J. Louie, Shawn Kacker, Manuel Holtgrewe, Alessandra Renieri, Susanne B. Kamphausen, Denise Horn, Ange Line Bruel, Carine Dalle, Quinten Waisfisz, Frank J. Kaiser, Golder N. Wilson
Publikováno v:
Brain, 143(12), 3564-3573
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346
KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b551b10bc02401ad4456584c23c15da4
https://doi.org/10.1093/brain/awaa346
https://doi.org/10.1093/brain/awaa346
Autor:
Lia DeRoin, Marcela Cavalcante de Andrade Silva, Kristin Petras, Kelly Arndt, Nathaniel Phillips, Pankhuri Wanjari, Hari Prasanna Subramanian, David Montes, James McElherne, Megan Theissen, Renee Briese, Soma Das, Lucy A. Godley, Jeremy Segal, Daniela del Gaudio, Carrie Fitzpatrick, Jane E. Churpek
Publikováno v:
Human mutation. 43(7)
To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8b54613a3b8782046476304fbed562
https://pubmed.ncbi.nlm.nih.gov/35419889
https://pubmed.ncbi.nlm.nih.gov/35419889