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PB0727 The Role of Thrombin and Thrombin Signaling in Chronic LCMV Infection

Autor: Cantrell, R., Feldman, H., Rosenfeldt, L., Ali, A., Sharma, B., Revenko, A., Monia, B., Waggoner, S., Palumbo, J.

Publikováno v: In Research and Practice in Thrombosis and Haemostasis October 2023 7 Supplement 2

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

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

Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas

Publikováno v: JAMA neurology
JAMA neurology, American Medical Association, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩
JAMA neurology, Vol. 75, no.5, p. 591-599 (2018)
JAMA neurology, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩

International audience; Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b5e26c4d72114d9c2b9494e4124c6f
http://hdl.handle.net/11577/3294486

Common Premutations in the General Population

Autor: Andrew B. Singleton, Monia B. Hammer

Publikováno v: JAMA neurology. 76(6)

IMPORTANCE: Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193dc97e7f414d13f8af2aefb4e4af4f
https://pubmed.ncbi.nlm.nih.gov/30933216