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

由 Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
發表在 Rambam Maimonides Med J (2018)

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant

由 Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E., Tiosano, Dov
發表在 Int J Mol Sci (2020)

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

由 Mory, Adi, Ruiz, Francesc X, Dagan, Efrat, Yakovtseva, Evgenia A, Kurolap, Alina, Parés, Xavier, Farrés, Jaume, Gershoni-Baruch, Ruth
出版 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

由 Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
出版 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

由 Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth
出版 2014

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

由 Mory, Adi, Dagan, Efrat, Illi, Barbara, Duquesnoy, Philippe, Mordechai, Shikma, Shahor, Ishai, Romani, Sveva, Hawash-Moustafa, Nivin, Mandel, Hanna, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth
出版 2012

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

由 Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
發表在 Mol Genet Metab Rep (2020)

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

由 Pollack, Shirley, Eisenstein, Israel, Mory, Adi, Paperna, Tamar, Ofir, Ayala, Baris-Feldman, Hagit, Weiss, Karin, Veszeli, Nóra, Csuka, Dorottya, Shemer, Revital, Glaser, Fabian, Prohászka, Zoltán, Magen, Daniella
發表在 Front Immunol (2021)

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

由 Kurolap, Alina, Armbruster, Anja, Hershkovitz, Tova, Hauf, Katharina, Mory, Adi, Paperna, Tamar, Hannappel, Ewald, Tal, Galit, Nijem, Yusif, Sella, Ella, Mahajnah, Muhammad, Ilivitzki, Anat, Hershkovitz, Dov, Ekhilevitch, Nina, Mandel, Hanna, Eulenburg, Volker, Baris, Hagit N.
發表在 Am J Hum Genet (2016)

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

由 Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
發表在 Hum Mol Genet (2018)

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

由 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.
發表在 PLoS Genet (2019)

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

由 Lopez-Herrera, Gabriela, Tampella, Giacomo, Pan-Hammarström, Qiang, Herholz, Peer, Trujillo-Vargas, Claudia M., Phadwal, Kanchan, Simon, Anna Katharina, Moutschen, Michel, Etzioni, Amos, Mory, Adi, Srugo, Izhak, Melamed, Doron, Hultenby, Kjell, Liu, Chonghai, Baronio, Manuela, Vitali, Massimiliano, Philippet, Pierre, Dideberg, Vinciane, Aghamohammadi, Asghar, Rezaei, Nima, Enright, Victoria, Du, Likun, Salzer, Ulrich, Eibel, Hermann, Pfeifer, Dietmar, Veelken, Hendrik, Stauss, Hans, Lougaris, Vassilios, Plebani, Alessandro, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Grimbacher, Bodo
出版 2012

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

由 Martin, Ella M M A, Enriquez, Annabelle, Sparrow, Duncan B, Humphreys, David T, McInerney-Leo, Aideen M, Leo, Paul J, Duncan, Emma L, Iyer, Kavitha R, Greasby, Joelene A, Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael, Gharavi, Ali G, Krzemień, Grażyna G, Miklaszewska, Monika, Steiner, Robert D, Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L M, Jobling, Rebekah, Gordon, Christopher T, Giampietro, Philip F, Dunwoodie, Sally L, Chapman, Gavin
發表在 Hum Mol Genet (2020)

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

由 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.
發表在 Nat Commun (2018)