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

por Neerman, Nir, Faust, Gregory, Meeks, Naomi, Modai, Shira, Kalfon, Limor, Falik-Zaccai, Tzipora, Kaplun, Alexander
Publicado 2019

Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division

por Honsho, Masanori, Abe, Yuichi, Imoto, Yuuta, Chang, Zee-Fen, Mandel, Hanna, Falik-Zaccai, Tzipora C., Fujiki, Yukio
Publicado 2020

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems

por Mesika, Aviv, Nadav, Golan, Shochat, Chen, Kalfon, Limor, Jackson, Karen, Khalaileh, Ayat, Karasik, David, Falik-Zaccai, Tzipora C.
Publicado 2022

Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease

por Abdallah Moady, Tameemi, Odeh, Marwan, Fedida, Ayalla, Segal, Zvi, Gruber, Maayan, Goldfeld, Moshe, Kalfon, Limor, Falik-Zaccai, Tzipora C.
Publicado 2023

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

por Cohen-Kfir, Nehama, Bentwich, Miriam Ethel, Kent, Andrew, Dickman, Nomy, Tanus, Mary, Higazi, Basem, Kalfon, Limor, Rudolf, Mary, Falik-Zaccai, Tzipora C.
Publicado 2020

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

por Kalfon, Limor, Baydany, Meirav, Samra, Nadra, Heno, Nawaf, Segal, Zvi, Eran, Ayelet, Yulevich, Alon, Fellig, Yakov, Mandel, Hanna, Falik‐Zaccai, Tzipora C.
Publicado 2021

A Puzzling “Switch” in Blood Type Following Blood Transfusion

por 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
Publicado 2017

Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

por Stelten, Bianca M. L., Dotti, Maria Teresa, Verrips, Aad, Elibol, Bülent, Falik-Zaccai, Tzipora C., Hanman, Kate, Mignarri, Andrea, Sithole, Belina, Steiner, Robert D., Verma, Surabhi, Yahalom, Gilad, Zubarioglu, Tanyel, Mochel, Fanny, Federico, Antonio
Publicado 2021

Two novel mutations identified in familial cases with Donohue syndrome

por 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
Publicado 2014

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

por 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
Publicado 2021

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

por Beryozkin, Avigail, Shevah, Elia, Kimchi, Adva, Mizrahi-Meissonnier, Liliana, Khateb, Samer, Ratnapriya, Rinki, Lazar, Csilla H., Blumenfeld, Anat, Ben-Yosef, Tamar, Hemo, Yitzhak, Pe’er, Jacob, Averbuch, Eduard, Sagi, Michal, Boleda, Alexis, Gieser, Linn, Zlotogorski, Abraham, Falik-Zaccai, Tzipora, Alimi-Kasem, Ola, Jacobson, Samuel G., Chowers, Itay, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado 2015

Hereditary orotic aciduria identified by newborn screening

por Staretz-Chacham, Orna, Damseh, Nadirah S., Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C., Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H., Almashanu, Shlomo
Publicado 2023

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

por Gunay-Aygun, Meral, Falik-Zaccai, Tzipora C, Vilboux, Thierry, Zivony-Elboum, Yifat, Gumruk, Fatma, Cetin, Mualla, Khayat, Morad, Boerkoel, Cornelius F, Kfir, Nehama, Huang, Yan, Maynard, Dawn, Dorward, Heidi, Berger, Katherine, Kleta, Robert, Anikster, Yair, Arat, Mutlu, Freiberg, Andrew S, Kehrel, Beate E, Jurk, Kerstin, Cruz, Pedro, Mullikin, Jim C, White, James G, Huizing, Marjan, Gahl, William A
Publicado 2011

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

por 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
Publicado 2017

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

por 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
Publicado 2017

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