Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

por Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
Publicado 2018

ERK Activity in Immature Leukemic Cells Drives Clonal Selection during Induction Therapy for Acute Myeloid Leukemia

por Hayun, Michal, Zaatra, Maria, Itzkovich, Chen, Sahar, Dvora, Rosenberg, Dina, Filatova, Margarita, Ringelstein-Harlev, Shimrit, Baris, Hagit, Moustafa-Hawash, Nivin, Louria-Hayon, Igal, Ofran, Yishai
Publicado 2020

Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program

por Levi, Zohar, Baris, Hagit N, Kedar, Inbal, Niv, Yaron, Geller, Alex, Gal, Eyal, Gingold, Rachel, Morgenstern, Sara, Baruch, Yacov, Leach, Brandie Heald, Bronner, Mary P, Eng, Charis
Publicado 2011

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

por Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Publicado 2013

Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial

por Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Baris, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Gaemers, Sebastiaan J. M., Tayag, Regina, Peterschmitt, M. Judith
Publicado 2017

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

por Stelzer, Gil, Plaschkes, Inbar, Oz-Levi, Danit, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Iny Stein, Tsippi, Baris, Hagit N., Rappaport, Noa, Safran, Marilyn, Lancet, Doron
Publicado 2016

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

por Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M., Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J., Zonneveld-Vrieling, Marijke N., Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I., Hoyng, Carel B., Cremers, Frans P.M., Ben-Yosef, Tamar
Publicado 2015

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

por Tesch, Victoria K., IJspeert, Hanna, Raicht, Andrea, Rueda, Daniel, Dominguez-Pinilla, Nerea, Allende, Luis M., Colas, Chrystelle, Rosenbaum, Thorsten, Ilencikova, Denisa, Baris, Hagit N., Nathrath, Michaela H. M., Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Ragab, Iman, Azizi, Amedeo A., Wenzel, Soeren S., Zschocke, Johannes, Schwinger, Wolfgang, Kloor, Matthias, Blattmann, Claudia, Brugieres, Laurence, van der Burg, Mirjam, Wimmer, Katharina, Seidel, Markus G.
Publicado 2018

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

por Tiosano, Dov, Baris, Hagit N., Chen, Anlu, Hitzert, Marrit M., Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G., Rump, Patrick, van Meer, Hester, Sival, Deborah A., Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X., Reis, André, Hauer, Nadine N., Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T., Wiesener, Michael S., Aslanyan, Mariam G., Buchner, David A.
Publicado 2019

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

por Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Publicado 2018

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

por Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G., Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N., Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T., Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D., Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R., Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C., Link, Michael P., Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L., MagimairajanIssai, Vanan, Maher, Ossama M., Massimino, Maura, McGee, Rose B., Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E., Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S., Zimmermann, Stefanie, Hawkins, Cynthia, Malkin, David, Bouffet, Eric, Villani, Anita, Tabori, Uri
Publicado 2021