Clinical utility gene card for: Xeroderma pigmentosum

di Schubert, Steffen, Lehmann, Janin, Kalfon, Limor, Slor, Hanoch, Falik-Zaccai, Tzipora C, Emmert, Steffen
Pubblicazione 2014

A clinically validated whole genome pipeline for structural variant detection and analysis

di Neerman, Nir, Faust, Gregory, Meeks, Naomi, Modai, Shira, Kalfon, Limor, Falik-Zaccai, Tzipora, Kaplun, Alexander
Pubblicato in BMC Genomics (2019)

Challenges to effective and autonomous genetic testing and counseling for ethno-cultural minorities: a qualitative study

di Cohen-Kfir, Nehama, Bentwich, Miriam Ethel, Kent, Andrew, Dickman, Nomy, Tanus, Mary, Higazi, Basem, Kalfon, Limor, Rudolf, Mary, Falik-Zaccai, Tzipora C.
Pubblicato in BMC Med Ethics (2020)

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

di DeBarber, Andrea E., Kalfon, Limor, Fedida, Ayalla, Fleisher Sheffer, Vered, Ben Haroush, Shani, Chasnyk, Natalia, Shuster Biton, Efrat, Mandel, Hanna, Jeffries, Krystal, Shinwell, Eric S., Falik-Zaccai, Tzipora C.
Pubblicato in J Lipid Res (2018)

A Puzzling “Switch” in Blood Type Following Blood Transfusion

di Akria, Luiza, Chezar, Judith, Zisman-Rozen, Simona, Scheinman, Eyal J., Zonis, Zeev, Hoffmann, Yoav, Falik-Zaccai, Tzipora, Kalfon, Limor, Weiss, Michael, Braester, Andrei, Suriu, Celia, Barhoum, Masad, Kuperman, Amir, Shaoul, Ety
Pubblicato in Ann Lab Med (2017)

Two novel mutations identified in familial cases with Donohue syndrome

di Falik Zaccai, Tzipora C, Kalfon, Limor, Klar, Aharon, Elisha, Mordechai Ben, Hurvitz, Haggit, Weingarten, Galina, Chechik, Emelia, Fleisher Sheffer, Vered, Haj Yahya, Raid, Meidan, Gal, Gross-Kieselstein, Eva, Bauman, Dvora, Hershkovitz, Sylvia, Yaron, Yuval, Orr-Urtreger, Avi, Wertheimer, Efrat
Pubblicazione 2014

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

di Peretz, Hava, Lagziel, Ayala, Bittner, Florian, Kabha, Mustafa, Shtauber-Naamati, Meirav, Zhuravel, Vicki, Usher, Sali, Rump, Steffen, Wollers, Silke, Bork, Bettina, Mandel, Hanna, Falik-Zaccai, Tzipora, Kalfon, Limor, Graessler, Juergen, Zeharia, Avraham, Heib, Nasser, Shalev, Hannah, Landau, Daniel, Levartovsky, David
Pubblicato in Biomedicines (2021)

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

di Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Pubblicato in EMBO Mol Med (2017)

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

di Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Pubblicato in EMBO Mol Med (2017)

Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

di Chen, Chih-Wei, Wang, Hong-Ling, Huang, Ching-Wen, Huang, Chang-Yu, Lim, Wai Keong, Tu, I-Chen, Koorapati, Atmaja, Hsieh, Sung-Tsang, Kan, Hung-Wei, Tzeng, Shiou-Ru, Liao, Jung-Chi, Chong, Weng Man, Naroditzky, Inna, Kidron, Dvora, Eran, Ayelet, Nijim, Yousif, Sela, Ella, Feldman, Hagit Baris, Kalfon, Limor, Raveh-Barak, Hadas, Falik-Zaccai, Tzipora C., Elpeleg, Orly, Mandel, Hanna, Chang, Zee-Fen
Pubblicato in Proc Natl Acad Sci U S A (2019)

Phospholipase A(2)-activating protein is associated with a novel form of leukoencephalopathy

di Falik Zaccai, Tzipora C, Savitzki, David, Zivony-Elboum, Yifat, Vilboux, Thierry, Fitts, Eric C, Shoval, Yishay, Kalfon, Limor, Samra, Nadra, Keren, Zohar, Gross, Bella, Chasnyk, Natalia, Straussberg, Rachel, Mullikin, James C, Teer, Jamie K, Geiger, Dan, Kornitzer, Daniel, Bitterman-Deutsch, Ora, Samson, Abraham O, Wakamiya, Maki, Peterson, Johnny W, Kirtley, Michelle L, Pinchuk, Iryna V, Baze, Wallace B, Gahl, William A, Kleta, Robert, Anikster, Yair, Chopra, Ashok K
Pubblicato in Brain (2017)

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

di 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.
Pubblicato in Nat Commun (2018)