Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia von Salzer‐Sheelo, Liat, Fellner, Avi, Orenstein, Naama, Bazak, Lily, Lev‐El Halabi, Noa, Daue, Melanie, Smirin‐Yosef, Pola, Van Hout, Cristopher V., Fellig, Yakov, Ruhrman‐Shahar, Noa, Staples, Jeffrey, Magal, Nurit, Shuldiner, Alan R., Mitchell, Braxton D., Nevo, Yoram, Pollin, Toni I., Gonzaga‐Jauregui, Claudia, Basel‐Salmon, Lina

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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory von Meng, Linyan, Attali, Ruben, Talmy, Tomer, Regev, Yakir, Mizrahi, Niv, Smirin-Yosef, Pola, Vossaert, Liesbeth, Taborda, Christian, Santana, Michael, Machol, Ido, Xiao, Rui, Dai, Hongzheng, Eng, Christine, Xia, Fan, Tzur, Shay

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A study of normal copy number variations in Israeli population von Maya, Idit, Smirin-Yosef, Pola, Kahana, Sarit, Morag, Sne, Yacobson, Shiri, Agmon-Fishman, Ifaat, Matar, Reut, Bitton, Elisheva, Shohat, Mordechai, Basel-Salmon, Lina, Salmon-Divon, Mali

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Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2 von Hellman-Aharony, Shlomit, MSc, Smirin-Yosef, Pola, MSc, Halevy, Ayelet, MD, Pasmanik-Chor, Metsada, PhD, Yeheskel, Adva, MSc, Har-Zahav, Adi, MSc, Maya, Idit, MD, Straussberg, Rachel, MD, Dahary, Dvir, MSc, Haviv, Ami, PhD, Shohat, Mordechai, MD, Basel-Vanagaite, Lina, MD, PhD

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Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency von de Vries, Liat, Behar, Doron M, Smirin-Yosef, Pola, Lagovsky, Irina, Tzur, Shay, Basel-Vanagaite, Lina

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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis von Eskin-Schwartz, Marina, Basel-Vanagaite, Lina, David, Michael, Lagovsky, Irina, Ben-Amitai, Dan, Smirin-Yosef, Pola, Atzmony, Lihi, Hodak, Emmilia

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A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis von Smirin-Yosef, Pola, Zuckerman-Levin, Nehama, Tzur, Shay, Granot, Yaron, Cohen, Lior, Sachsenweger, Juliane, Borck, Guntram, Lagovsky, Irina, Salmon-Divon, Mali, Wiesmüller, Lisa, Basel-Vanagaite, Lina

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Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa von Weisz Hubshman, Monika, Broekman, Sanne, van Wijk, Erwin, Cremers, Frans, Abu-Diab, Alaa, Khateb, Samer, Tzur, Shay, Lagovsky, Irina, Smirin-Yosef, Pola, Sharon, Dror, Haer-Wigman, Lonneke, Banin, Eyal, Basel-Vanagaite, Lina, de Vrieze, Erik

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PEDIA: prioritization of exome data by image analysis von Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum von Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miquel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nürnberg, Peter, Gothelf, Doron, Kubisch, Christian, Shohat, Mordechai, Macaya, Alfons, Borck, Guntram

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A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin von Reinstein, Eyal, Smirin-Yosef, Pola, Lagovsky, Irina, Davidov, Bella, Peretz Amit, Gabriela, Neumann, Doron, Orr-Urtreger, Avi, Ben-Shachar, Shay, Basel-Vanagaite, Lina

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eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation von Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina

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X-linked elliptocytosis with impaired growth is related to mutated AMMECR1 von Basel-Vanagaite, Lina, Pillar, Nir, Isakov, Ofer, Smirin-Yosef, Pola, Lagovsky, Irina, Orenstein, Naama, Salmon-Divon, Mali, Tamary, Hannah, Zaft, Tami, Bazak, Lily, Meyerovitch, Joseph, Pelli, Tal, Botchan, Shay, Farberov, Luba, Weissglas-Volkov, Daphna, Shomron, Noam

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Corrigendum to “X-linked elliptocytosis with impaired growth is related to mutated AMMECR1” [Gene 606C (2017) 47–52] von Basel-Vanagaite, Lina, Pillar, Nir, Isakov, Ofer, Smirin-Yosef, Pola, Lagovsky, Irina, Orenstein, Naama, Salmon-Divon, Mali, Tamary, Hannah, Zaft, Tami, Bazak, Lily, Meyerovitch, Joseph, Pelli, Tal, Botchan, Shay, Farberov, Luba, Weissglas-Volkov, Daphna, Shomron, Noam

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Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation von Straussberg, Rachel, Ganelin-Cohen, Esther, Goldberg-Stern, Hadassah, Tzur, Shay, Behar, Doron M, Smirin-Yosef, Pola, Salmon-Divon, Mali, Basel-Vanagaite, Lina

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Homozygous MED25 mutation implicated in eye–intellectual disability syndrome von Basel-Vanagaite, Lina, Smirin-Yosef, Pola, Essakow, Jenna Lee, Tzur, Shay, Lagovsky, Irina, Maya, Idit, Pasmanik-Chor, Metsada, Yeheskel, Adva, Konen, Osnat, Orenstein, Naama, Weisz Hubshman, Monika, Drasinover, Valerie, Magal, Nurit, Peretz Amit, Gaby, Zalzstein, Yael, Zeharia, Avraham, Shohat, Mordechai, Straussberg, Rachel, Monté, Didier, Salmon-Divon, Mali, Behar, Doron M.

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PEDIA: prioritization of exome data by image analysis von Hsieh, Tzung-Chien, Mensah, Martin A, Pantel, Jean T, Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B, Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Dukic, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Bjoern, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W, Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Koehler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J, Mangold, Elisabeth, Marin Reina, Purificacion, Martinez Carrascal, Antonio, Mitter, Diana, Morlan Herrador, Laura, Nadav, Guy, Noethen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Poeisler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T, Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wisniewska, Marzena, Wollnik, Bernd, Yeung, Ming W, Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M

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Homozygous truncating PTPRF mutation causes athelia von Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nürnberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar, Nürnberg, Peter, Foley, John, Kubisch, Christian, Basel-Vanagaite, Lina

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Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52] von Basel-Vanagaite, Lina, Pillar, Nir, Isakov, Ofer, Smirin-Yosef, Pola, Lagovsky, Irina, Orenstein, Naama, Salmon-Divon, Mali, Tamary, Hannah, Zaft, Tami, Bazak, Lily, Meyerovitch, Joseph, Pelli, Tal, Botchan, Shay, Farberov, Luba, Weissglas-Volkov, Daphna, Shomron, Noam

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