Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Florencia del Viso"'
Autor:
Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101014- (2024)
Externí odkaz:
https://doaj.org/article/23c19057685042b29804559ad137c0a0
Autor:
Joseph Alaimo, Florencia Del Viso, Vitoria Paolillo, Ana S.A. Cohen, Isabelle Thiffault, Carol Saunders
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101122- (2024)
Externí odkaz:
https://doaj.org/article/def483315de5462ab5d555d8dbd7c53f
Autor:
Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101197- (2024)
Externí odkaz:
https://doaj.org/article/66f4d6ac8ddf481a8edcbd963b979bb3
Autor:
Lisa Lansdon, Florencia Del Viso, Caitlin Schwager, Lei Zhang, Sultan Habeebu, Melissa Gener, Midhat Farooqi, Kevin Ginn, Joseph Alaimo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100085- (2023)
Externí odkaz:
https://doaj.org/article/c957e9ed77a44051989b7802af91e3dd
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100495- (2023)
Externí odkaz:
https://doaj.org/article/708a3884ce2a48a4a7a2ad93e45dd2a2
Autor:
Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100618- (2023)
Externí odkaz:
https://doaj.org/article/ba08653b7f53417185316a2bd408f427
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005018 (2015)
The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previo
Externí odkaz:
https://doaj.org/article/1bdded8821004dadb2d8248bc2e32f2f
Autor:
Florencia Del Viso, Dihong Zhou, Isabelle Thiffault, Caitlin Lawson, Laura Cross, Janda Jenkins, Eric Rush, Carol Saunders
Publikováno v:
American Journal of Medical Genetics Part A. 191:259-264
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dd7ba33a4dc1d7884e0f4606f7c73dd
https://doi.org/10.1002/ajmg.a.63006
https://doi.org/10.1002/ajmg.a.63006
Autor:
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Publikováno v:
Brain.
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::820c961c807b1c4c6560ab3f815afabe
https://doi.org/10.1093/brain/awad124
https://doi.org/10.1093/brain/awad124
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
