Search Results - Ben Pode‐Shakked

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  1. 1
    Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

    Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children by Asaf Vivante, Orna Staretz Chacham, Shirlee Shril, Ruth Schreiber, Shrikant Mane, Ben Pode‐Shakked, Neveen A. Soliman, Irene Koneth, Mario Schiffer, Yair Anikster, Friedhelm Hildebrandt

    Published 2019
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  2. 2
    A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

    A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency by Inbal Lasry, Young Ah Seo, Hadas Ityel, Nechama Shalva, Ben Pode‐Shakked, Fabian Glaser, Bluma Berman, Igor N. Berezovsky, Alexander Goncearenco, Aharon Klar, Jacob Levy, Yair Anikster, Shannon L. Kelleher, Yehuda G. Assaraf

    Published 2012
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  3. 3
    Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem Cells

    Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem Cells by Naomi Pode‐Shakked, Oren Pleniceanu, Rotem Gershon, Rachel Shukrun, Itamar Kanter, Efrat Bucris, Ben Pode‐Shakked, Gal Tam, Hadar Tam, Revital Caspi, Sara Pri‐Chen, Einav Vax, Guy Katz, Dorit Omer, Orit Harari‐Steinberg, Tomer Kalisky, Benjamin Dekel

    Published 2016
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  4. 4
    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families by Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik‐Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli‐Avella, Peter Bauer, Miriam Regev, Annick Raas‐Rothschild, Elon Pras, Michal Berkenstadt

    Published 2019
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  5. 5
    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

    Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations by Joshi Stephen, Thierry Vilboux, Yael Haberman, Hadass Pri‐Chen, Ben Pode‐Shakked, Sina Mazaheri, Dina Marek‐Yagel, Ortal Barel, Ayelet Di Segni, Eran Eyal, Goni Hout‐Siloni, Avishay Lahad, Tzippora Shalem, Gideon Rechavi, May Christine V. Malicdan, Batia Weiss, William A. Gahl, Yair Anikster

    Published 2016
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  6. 6
    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

    Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode‐Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante

    Published 2019
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  7. 7
    Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in Cancer

    Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in Cancer by Alon Silberman, Omer Goldman, Odeya Boukobza Assayag, Adi Jacob, Shiran Rabinovich, Lital N. Adler, Joo Sang Lee, Rom Keshet, Alona Sarver, Julia Frug, Noa Stettner, Sivan Galai, Erez Persi, Keren Bahar Halpern, Yehudit Zaltsman-Amir, Ben Pode‐Shakked, Raya Eilam, Yair Anikster, Sandesh C.S. Nagamani, Igor Ulitsky, Eytan Ruppin, Ayelet Erez

    Published 2018
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  8. 8
    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency by May Christine V. Malicdan, Thierry Vilboux, Bruria Ben‐Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode‐Shakked, Amir Dori, Sravan Kakani, Settara C. Chandrasekharappa, Carlos R. Ferreira, Natalia Shelestovich, Dina Marek‐Yagel, Hadass Pri‐Chen, Ilan Blatt, John E. Niederhuber, Langping He, Camilo Toro, Robert W. Taylor, John F. Deeken, Tal Yardeni, Douglas C. Wallace, William A. Gahl, Yair Anikster

    Published 2017
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  9. 9
    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy by Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev, Judith Kandel, Hadass Pri‐Chen, Joshi Stephen, Inês Gomes Castro, Jeremy Metz, Osama Atawa, Sharon Moshkovitz, Esther Ganelin, Iris Barshack, Sylvie Polak‐Charcon, Dvora Nass, Dina Marek‐Yagel, Ninette Amariglio, Nechama Shalva, Thierry Vilboux, Carlos R. Ferreira, Ben Pode‐Shakked, Gali Heimer, Chen Hoffmann, Tal Yardeni, Andreea Nissenkorn, Camila Avivi, Eran Eyal, Nitzan Kol, Efrat G. Saar, Douglas C. Wallace, William A. Gahl, Gideon Rechavi, Michael Schrader, David M. Eckmann, Yair Anikster

    Published 2017
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  10. 10
    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

    Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy by Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode‐Shakked, Dina Marek‐Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov‐Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alexander Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias C. Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster

    Published 2018
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  11. 11
    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability by Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Thomas Meißner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel, Aurora Martı́nez, Edward L. Huttlin, João A. Paulo, Riccardo Berutti, Jean‐François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval E. Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff

    Published 2017
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  12. 12
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling by Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    Published 2020
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  13. 13
    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy by Sarah L. Stenton, Н Л Шеремет, Claudia B. Catarino, N.A. Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, S. Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Héon, Y.S. Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Réka Kovács-Nagy, Tatiana Krylova, Wolfram S. Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro Felipe Malacarne, Alessandra Maresca, Johannes A. Mayr, Jana Meisterknecht, Tatiana A. Nevinitsyna, Flavia Palombo, Ben Pode‐Shakked, M.S. Shmelkova, Tim M. Strom, Francesca Tagliavini, Michal Tzadok, Amelie T. van der Ven, Catherine Vignal, Matias Wagner, Ekaterina Zakharova, N.V. Zhorzholadze, Jean‐Michel Rozet, Valério Carelli, Polina G. Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch

    Published 2021
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  14. 14
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder by Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Published 2021
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  15. 15
    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations by Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith

    Published 2021
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