Differential analysis of mutations in the Jewish population and their implications for diseases

por EINHORN, YARON, WEISSGLAS-VOLKOV, DAPHNA, CARMI, SHAI, OSTRER, HARRY, FRIEDMAN, EITAN, SHOMRON, NOAM
Publicado 2017

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

por Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit
Publicado 2023

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

por Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara
Publicado 2022

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

por DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone US., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, T Michael., Rehm, Heidi L.
Publicado 2022

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

por Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
Publicado 2023