SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation von Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben‐Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy‐Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman‐Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E., Goldberg, Ethan M.

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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations von Hausman-Kedem, Moran, Ben-Sira, Liat, Kidron, Debora, Ben-Shachar, Shay, Straussberg, Rachel, Marom, Daphna, Ponger, Penina, Bar-Shira, Anat, Malinger, Gustavo, Fattal-Valevski, Aviva

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Acute Infantile Liver Failure Due to Mutations in the TRMU Gene von Zeharia, Avraham, Shaag, Avraham, Pappo, Orit, Mager-Heckel, Anne-Marie, Saada, Ann, Beinat, Marine, Karicheva, Olga, Mandel, Hanna, Ofek, Noa, Segel, Reeval, Marom, Daphna, Rötig, Agnes, Tarassov, Ivan, Elpeleg, Orly

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Genetics of tuberous sclerosis complex: an update von Marom, Daphna

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Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center von Michaelson-Cohen, Rachel, Salzer-Sheelo, Liat, Sukenik-Halevy, Rivka, Koifman, Arie, Fellner, Avi, Reches, Adi, Marom, Daphna, Behar, Doron M., Sofrin-Drucker, Efrat, Zaks-Hoffer, Gal, Weiss-Hubshmann, Monika, Oresntein, Naama, Kropach-Gilad, Nesia, Rhurman-Shahar, Noa, Averbuch, Noa Shefer, Magal, Nurit, Bazak, Lily, Josefberg, Sagi, Matar, Reut, Goldberg, Yael, Shohat, Mordechai, Basel-Salmon, Lina, Maya, Idit

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Biallelic loss of EMC10 leads to mild to severe intellectual disability von Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza

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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis von Barel, Dalit, Marom, Daphna, Ponger, Penina, Kurolap, Alina, Bar-Shira, Anat, Kaplan-Ber, Idit, Mory, Adi, Abramovich, Beatrice, Yaron, Yuval, Drory, Vivian, Baris Feldman, Hagit

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Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome? von Kapusta, Livia, Beer, Gil, Rothschild, Ehud, Baruch, Guy, Barkay, Gili, Marom, Daphna, Grinshpun-Cohen, Yulia, Raskind, Craig, Constantini, Shlomi, Toledano-Alhadef, Hagit

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria von Akula, Shyam K, Chen, Allen Y, Neil, Jennifer E, Shao, Diane D, Mo, Alisa, Hylton, Norma K, DiTroia, Stephanie, Ganesh, Vijay S, Smith, Richard S, O’Kane, Katherine, Yeh, Rebecca C, Marciano, Jack H, Kirkham, Samantha, Kenny, Connor J, Song, Janet H. T, Al Saffar, Muna, Millan, Francisca, Harris, David J, Murphy, Andrea V, Klemp, Kara C, Braddock, Stephen R, Brand, Harrison, Wong, Isaac, Talkowski, Michael E, O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H, Doan, Ryan N, Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response von Rice, Gillian I, Bond, Jacquelyn, Asipu, Aruna, Brunette, Rebecca L, Manfield, Iain W, Carr, Ian M, Fuller, Jonathan C, Jackson, Richard M, Lamb, Teresa, Briggs, Tracy A, Ali, Manir, Gornall, Hannah, Couthard, Lydia R, Aeby, Alec, Attard-Montalto, Simon P, Bertini, Enrico, Bodemer, Christine, Brockmann, Knut, Brueton, Louise A, Corry, Peter C, Desguerre, Isabelle, Fazzi, Elisa, Cazorla, Angels Garcia, Gener, Blanca, Hamel, Ben C J, Heiberg, Arvid, Hunter, Matthew, van der Knaap, Marjo S, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenco, Charles M, Marom, Daphna, McDermott, Michael F, van der Merwe, William, Orcesi, Simona, Prendiville, Julie S, Rasmussen, Magnhild, Shalev, Stavit A, Soler, Doriette M, Shinawi, Marwan, Spiegel, Ronen, Tan, Tiong Y, Vanderver, Adeline, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Lebon, Pierre, Stetson, Daniel B, Bonthron, David T, Crow, Yanick J

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De novo variants in ATP2B1 lead to neurodevelopmental delay von Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome von Karimi, Karim, Lichtenstein, Yael, Reilly, Jack, McConkey, Haley, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, Bouman, Arjan, Symonds, Joseph D., Ghoumid, Jamal, Smol, Thomas, Clarkson, Katie, Drazba, Katy, Louie, Raymond J., Miranda, Valancy, McCann, Cathleen, Motta, Jamie, Lancaster, Emily, Sallevelt, Suzanne, Sidlow, Richard, Morrison, Jennifer, Hannibal, Mark, O'Shea, Jessica, Marin, Victor, Prasad, Chitra, Patel, Chirag, Raskin, Salmo, Maria-Noelia, Seco Moro, Diaz de Bustamante, Aranzazú, Marom, Daphna, Barkan, Tali, Keren, Boris, Poirsier, Celine, Cohen, Lior, Colin, Estelle, Gorman, Kathleen, Gallant, Emily, Menke, Leonie A., Valenzuela Palafoll, Irene, Hauser, Natalie, Wentzensen, Ingrid M., Rankin, Julia, Turnpenny, Peter D., Campeau, Philippe M., Balci, Tugce B., Tedder, Matthew L., Sadikovic, Bekim, Weiss, Karin

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Utility of genetic testing in children with leukodystrophy von Zerem, Ayelet, Libzon, Stephanie, Ben Sira, Liat, Meirson, Hadas, Hausman-Kedem, Moran, Haviv, Noam, Yosovich, Keren, Mory, Adi, Baris Feldman, Hagit, Lev, Dorit, Lerman-Sagie, Tally, Fattal-Valevski, Aviva, Hacohen, Yael, Marom, Daphna

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders von Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina

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Healthcare-associated Versus Community-associated Infective Endocarditis in Children von Marom, Daphna, Levy, Itzhak, Gutwein, Odit, Birk, Einat, Ashkenazi, Shai

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders von Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yesil, Goezde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schoeneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Juergen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayca Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskaer, Katarina, Al Aqeel, Aida, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina

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Infective Endocarditis in Previously Healthy Children With Structurally Normal Hearts von Marom, Daphna, Ashkenazi, Shai, Samra, Zmira, Birk, Einat

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome von Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

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Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor von Cohen‐Barak, Eran, Toledano‐Alhadef, Hagit, Danial‐Farran, Nada, Livneh, Ido, Mwassi, Banan, Hriesh, Maysa, Zagairy, Fadia, Gafni‐Amsalem, Chen, Bashir, Husam, Khayat, Morad, Warrour, Nassim, Sher, Osnat, Marom, Daphna, Postovsky, Sergey, Dujovny, Tal, Ziv, Michael, Shalev, Stavit A.

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The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy von Dinstein, Ilan, Arazi, Ayelet, Golan, Hava M., Koller, Judah, Elliott, Evan, Gozes, Illana, Shulman, Cory, Shifman, Sagiv, Raz, Raanan, Davidovitch, Nadav, Gev, Tali, Aran, Adi, Stolar, Orit, Ben-Itzchak, Esther, Snir, Irit Mor, Israel-Yaacov, Sandra, Bauminger-Zviely, Nirit, Bonneh, Yoram S., Gal, Eynat, Shamay-Tsoory, Simone, Zait, Anat Zaidman, Hadad, Bat Sheva, Gross, Raz, Faroy, Michal, Bachmat, Eitan, Eran, Alal, Uzefovsky, Florina, Flusser, Hagit, Michaelovski, Analya, Levine, Stephen Z., Kodesh, Arad, Gothelf, Doron, Marom, Daphna, Feldman, Hagit Baris, Yosef, Dalit Ben, Bloch, Aviva Mimouni, Sadaka, Yair, Schtaierman, Chen, Davidovitch, Michael, Begin, Michal, Gabis, Lidia V., Zachor, Ditza, Menashe, Idan, Golan, Ofer, Meiri, Gal

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