Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Navon Elkan, Paulina, Pierce, Sarah B, Segel, Reeval, Walsh, Tom, Barash, Judith, Padeh, Shai, Zlotogorski, Abraham, Berkun, Yackov, Press, Joseph J, Mukamel, Masha, Voth, Isabel, Hashkes, Philip J, Harel, Liora, Hoffer, Vered, Ling, Eduard, Yalcinkaya, Fatos, Kasapcopur, Ozgur, Lee, Ming K, Klevit, Rachel E, Renbaum, Paul, Weinberg-Shukron, Ariella, Sener, Elif F, Schormair, Barbara, Zeligson, Sharon, Marek-Yagel, Dina, Strom, Tim M, Shohat, Mordechai, Singer, Amihood, Rubinow, Alan, Pras, Elon, Winkelmann, Juliane, Tekin, Mustafa, Anikster, Yair, King, Mary-Claire, Levy-Lahad, Ephrat
Published in The New England journal of medicine (06.03.2014)
Published in The New England journal of medicine (06.03.2014)
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Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Has, Cristina, Spartà, Giuseppina, Kiritsi, Dimitra, Weibel, Lisa, Moeller, Alexander, Vega-Warner, Virginia, Waters, Aoife, He, Yinghong, Anikster, Yair, Esser, Philipp, Straub, Beate K, Hausser, Ingrid, Bockenhauer, Detlef, Dekel, Benjamin, Hildebrandt, Friedhelm, Bruckner-Tuderman, Leena, Laube, Guido F
Published in The New England journal of medicine (19.04.2012)
Published in The New England journal of medicine (19.04.2012)
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A Phase I clinical trial of dose-escalated metabolic therapy combined with concomitant radiation therapy in high-grade glioma
Porper, Keren, Shpatz, Yael, Plotkin, Luba, Pechthold, Ronit Goldman, Talianski, Alisa, Champ, Colin E., Furman, Orit, Shimoni-Sebag, Ariel, Symon, Zvi, Amit, Uri, Hemi, Rina, Kanety, Hannah, Mardor, Yael, Cohen, Zvi R., Jan, Elisheva, Genssin, Hili, Anikster, Yair, Zach, Leor, Lawrence, Yaacov R.
Published in Journal of neuro-oncology (01.07.2021)
Published in Journal of neuro-oncology (01.07.2021)
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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Vivante, Asaf, Chacham, Orna Staretz, Shril, Shirlee, Schreiber, Ruth, Mane, Shrikant M., Pode-Shakked, Ben, Soliman, Neveen A., Koneth, Irene, Schiffer, Mario, Anikster, Yair, Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.09.2019)
Published in Pediatric nephrology (Berlin, West) (01.09.2019)
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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency
Staretz-Chacham, Orna, Pode-Shakked, Ben, Kristal, Eyal, Abraham, Smadar Yaala, Porper, Keren, Wormser, Ohad, Shelef, Ilan, Anikster, Yair
Published in Nutrients (07.10.2021)
Published in Nutrients (07.10.2021)
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
Vilboux, Thierry, Lev, Atar, Malicdan, May Christine V, Simon, Amos J, Järvinen, Päivi, Racek, Tomas, Puchalka, Jacek, Sood, Raman, Carrington, Blake, Bishop, Kevin, Mullikin, James, Huizing, Marjan, Garty, Ben Zion, Eyal, Eran, Wolach, Baruch, Gavrieli, Ronit, Toren, Amos, Soudack, Michalle, Atawneh, Osama M, Babushkin, Tatiana, Schiby, Ginette, Cullinane, Andrew, Avivi, Camila, Polak-Charcon, Sylvie, Barshack, Iris, Amariglio, Ninette, Rechavi, Gideon, van der Werff ten Bosch, Jutte, Anikster, Yair, Klein, Christoph, Gahl, William A, Somech, Raz
Published in The New England journal of medicine (04.07.2013)
Published in The New England journal of medicine (04.07.2013)
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A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency
Lasry, Inbal, Seo, Young Ah, Ityel, Hadas, Shalva, Nechama, Pode-Shakked, Ben, Glaser, Fabian, Berman, Bluma, Berezovsky, Igor, Goncearenco, Alexander, Klar, Aharon, Levy, Jacob, Anikster, Yair, Kelleher, Shannon L., Assaraf, Yehuda G.
Published in The Journal of biological chemistry (24.08.2012)
Published in The Journal of biological chemistry (24.08.2012)
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Journal Article
A human integrin-α3 mutation confers major renal developmental defects
Shukrun, Rachel, Vivante, Asaf, Pleniceanu, Oren, Vax, Einav, Anikster, Yair, Dekel, Benjamin, Lotan, Danny
Published in PloS one (12.03.2014)
Published in PloS one (12.03.2014)
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Journal Article
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Kristal, Eyal, Pode-Shakked, Ben, Hazan, Guy, Banne, Ehud, Ling, Galina, David, Odeya, Shany, Eilon, Raas-Rothschild, Annick, Anikster, Yair, Kneller, Katya, Hershkovitz, Eli, Landau, Yuval E, Spiegel, Ronen, Zehavi, Yoav, Staretz-Chacham, Orna
Published in Orphanet journal of rare diseases (08.09.2021)
Published in Orphanet journal of rare diseases (08.09.2021)
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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
Gunay-Aygun, Meral, Zivony-Elboum, Yifat, Gumruk, Fatma, Geiger, Dan, Cetin, Mualla, Khayat, Morad, Kleta, Robert, Kfir, Nehama, Anikster, Yair, Chezar, Judith, Arcos-Burgos, Mauricio, Shalata, Adel, Stanescu, Horia, Manaster, Joseph, Arat, Mutlu, Edwards, Hailey, Freiberg, Andrew S., Hart, P. Suzanne, Riney, Lauren C., Patzel, Katherine, Tanpaiboon, Pranoot, Markello, Tom, Huizing, Marjan, Maric, Irina, Horne, McDonald, Kehrel, Beate E., Jurk, Kerstin, Hansen, Nancy F., Cherukuri, Praveen F., Jones, Marypat, Cruz, Pedro, Mullikin, Jim C., Nurden, Alan, White, James G., Gahl, William A., Falik-Zaccai, Tzippora
Published in Blood (02.12.2010)
Published in Blood (02.12.2010)
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Dietary-Induced Ketogenesis: Adults Are Not Children
Porper, Keren, Zach, Leor, Shpatz, Yael, Ben-Zeev, Bruria, Tzadok, Michal, Jan, Elisheva, Talianski, Alisa, Champ, Colin E., Symon, Zvi, Anikster, Yair, Lawrence, Yaacov R.
Published in Nutrients (02.09.2021)
Published in Nutrients (02.09.2021)
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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
Abudi-Sinreich, Shachar, Bodine, Steven P, Yokoyama, Tadafumi, Tolman, Nathanial J, Tyrlik, Michal, Testa, Lauren C, Han, Chen G, Dorward, Heidi M, Wincovitch, Stephen M, Anikster, Yair, Gahl, William A, Cinar, Resat, Gochuico, Bernadette R, Malicdan, May Christine V
Published in Respiratory research (04.05.2022)
Published in Respiratory research (04.05.2022)
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Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Veber, Alvit, Shalva, Nechama, Philosoph, Amit Mary, Pode-Shakked, Ben, Malicdan, May Christine V., Anikster, Yair
Published in Frontiers in genetics (15.08.2022)
Published in Frontiers in genetics (15.08.2022)
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Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene
Iuso, Arcangela, Zhang, Fangfang, Rusha, Ejona, Campbell, Birgit, Dorn, Tatjana, Zanuttigh, Enrica, Haas, Dorothea, Anikster, Yair, Lederer, Gabriele, Pertek, Anna, Nteli, Polyxeni, Laugwitz, Karl-Ludwig, Moretti, Alessandra
Published in Stem cell research (01.05.2022)
Published in Stem cell research (01.05.2022)
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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Tirosh, Irit, Spielman, Shiri, Barel, Ortal, Ram, Reut, Stauber, Tali, Paret, Gideon, Rubinsthein, Marina, Pessach, Itai M, Gerstein, Maya, Anikster, Yair, Shukrun, Rachel, Dagan, Adi, Adler, Katerina, Pode-Shakked, Ben, Volkov, Alexander, Perelman, Marina, Greenberger, Shoshana, Somech, Raz, Lahav, Einat, Majmundar, Amar J, Padeh, Shai, Hildebrandt, Friedhelm, Vivante, Asaf
Published in Pediatric rheumatology online journal (30.07.2019)
Published in Pediatric rheumatology online journal (30.07.2019)
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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair
Published in BMC medical genetics (29.03.2019)
Published in BMC medical genetics (29.03.2019)
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Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
Kagan, Maayan, Semo-Oz, Rotem, Ben Moshe, Yishay, Atias-Varon, Danit, Tirosh, Irit, Stern-Zimmer, Michal, Eliyahu, Aviva, Raas-Rothschild, Annick, Bivas, Maayan, Shlomovitz, Omer, Chorin, Odelia, Rock, Rachel, Tzadok, Michal, Ben-Zeev, Bruria, Heimer, Gali, Bolkier, Yoav, Gruber, Noah, Dagan, Adi, Bar Aluma, Bat El, Pessach, Itai M, Rechavi, Gideon, Barel, Ortal, Pode-Shakked, Ben, Anikster, Yair, Vivante, Asaf
Published in Frontiers in genetics (09.01.2023)
Published in Frontiers in genetics (09.01.2023)
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Journal Article
Hereditary orotic aciduria identified by newborn screening
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
Published in Frontiers in genetics (14.03.2023)
Published in Frontiers in genetics (14.03.2023)
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