Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis von 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

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Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect von Rappaport, Noa, Fishilevich, Simon, Nudel, Ron, Twik, Michal, Belinky, Frida, Plaschkes, Inbar, Stein, Tsippi Iny, Cohen, Dana, Oz-Levi, Danit, Safran, Marilyn, Lancet, Doron

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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy von Kurolap, Alina, Eshach-Adiv, Orly, Hershkovitz, Tova, Paperna, Tamar, Mory, Adi, Oz-Levi, Danit, Zohar, Yaniv, Mandel, Hanna, Chezar, Judith, Azoulay, David, Peleg, Sarit, Half, Elizabeth E, Yahalom, Vered, Finkel, Lilach, Weissbrod, Omer, Geiger, Dan, Tabib, Adi, Shaoul, Ron, Magen, Daniella, Bonstein, Lilach, Mevorach, Dror, Baris, Hagit N

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In-silico human genomics with GeneCards von Stelzer, Gil, Dalah, Irina, Stein, Tsippi Iny, Satanower, Yigeal, Rosen, Naomi, Nativ, Noam, Oz-Levi, Danit, Olender, Tsviya, Belinky, Frida, Bahir, Iris, Krug, Hagit, Perco, Paul, Mayer, Bernd, Kolker, Eugene, Safran, Marilyn, Lancet, Doron

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VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Oz-Levi, Danit, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Iny Stein, Tsippi, Baris, Hagit N, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios von Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.

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TECPR2: A new autophagy link for neurodegeneration von Oz-Levi, Danit, Gelman, Amir, Elazar, Zvulun, Lancet, Doron

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy von Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.

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Noncoding deletions reveal a gene that is critical for intestinal function von Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K., Han, Yujun, Vos, Erica S. M., Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M., Coleman-Derr, Devin, Dickel, Diane E., Nord, Alex S., Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M., Black, Brian L., Mayhew, Christopher N., Kuhar, Matthew F., Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C., Wells, James M., Kleta, Robert, de Laat, Wouter, Goldstein, David B., Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A.

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Effective bubble-based testing for SARS-CoV-2 using swab-pooling von Cohen, Yuval, Bamberger, Nadav, Mor, Orna, Walfisch, Ronen, Fleishon, Shay, Varkovitzky, Itay, Younger, Asaf, Levi, Danit Oz, Kohn, Yishai, Steinberg, David M., Zeevi, Danny, Erster, Oran, Mendelson, Ella, Livneh, Zvi

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Talin1 dysfunction is genetically linked to systemic capillary leak syndrome von Elefant, Naama, Rouni, Georgia, Arapatzi, Christina, Oz-Levi, Danit, Sion-Sarid, Racheli, Edwards, William Js, Ball, Neil J, Yanovsky-Dagan, Shira, Cowell, Alana R, Meiner, Vardiella, Vainstein, Vladimir, Grammenoudi, Sofia, Lancet, Doron, Goult, Benjamin T, Harel, Tamar, Kostourou, Vassiliki

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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability von Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K, Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori, Pras, Elon, Reznik-Wolf, Haike, Lancet, Doron, Goldstein, David B, Anikster, Yair, Shalev, Stavit A, Elpeleg, Orly, Ben Zeev, Bruria

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Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function von Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K., Han, Yujun, Vos, Erica S. M., Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M., Coleman-Derr, Devin, Dickel, Diane E., Nord, Alex S., Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M., Black, Brian L., Mayhew, Christopher N., Kuhar, Matthew F., Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C., Wells, James M., Kleta, Robert, de Laat, Wouter, Goldstein, David B., Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A.

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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy: Letter von Kurolap Alina, Eshach-Adiv Orly, Hershkovitz Tova, Paperna Tamar, Mory Adi, Oz-Levi Danit, Zohar Yaniv, Mandel, Hanna, Chezar Judith, Azoulay, David, Peleg Sarit, Half, Elizabeth E, Yahalom Vered, Finkel Lilach, Weissbrod Omer, Geiger, Dan, Tabib Adi, Shaoul, Ron, Magen Daniella, Bonstein Lilach, Mevorach Dror, Baris, Hagit N

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Additional file 3: Table S2. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Additional file 1: Figure S1. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Additional file 2: Table S1. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Additional file 6:Â Table S5. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Additional file 4:Â Table S3. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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Additional file 5:Â Table S4. of VarElect: the phenotype-based variation prioritizer of the GeneCards Suite von Stelzer, Gil, Plaschkes, Inbar, Danit Oz-Levi, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Tsippi Iny Stein, Baris, Hagit, Rappaport, Noa, Safran, Marilyn, Lancet, Doron

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