Mechanical communication in cardiac cell synchronized beating von Nitsan, Ido, Drori, Stavit, Lewis, Yair E., Cohen, Shlomi, Tzlil, Shelly

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Genetics of hearing loss in the Arab population of Northern Israel von Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B, Shalev, Stavit A

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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation von Spiegel, Ronen, Saada, Ann, Flannery, Padraig J, Burté, Florence, Soiferman, Devorah, Khayat, Morad, Eisner, Verónica, Vladovski, Eugene, Taylor, Robert W, Bindoff, Laurence A, Shaag, Avraham, Mandel, Hanna, Schuler-Furman, Ora, Shalev, Stavit A, Elpeleg, Orly, Yu-Wai-Man, Patrick

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy von Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

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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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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size von Kadir, Rotem, Harel, Tamar, Markus, Barak, Perez, Yonatan, Bakhrat, Anna, Cohen, Idan, Volodarsky, Michael, Feintsein-Linial, Miora, Chervinski, Elana, Zlotogora, Joel, Sivan, Sara, Birnbaum, Ramon Y, Abdu, Uri, Shalev, Stavit, Birk, Ohad S

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes von Valente, Enza Maria, Logan, Clare V, Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L, Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C, Swistun, Dominika, Salpietro, Carmelo D, Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A, Held, Susanne, Diplas, Bill H, Davis, Erica E, Mikula, Mario, Strom, Charles M, Ben-Zeev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A, Attié-Bitach, Tania, Gleeson, Joseph G

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Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis von RAMESH, VENKATESWARAN, BERNARDI, BRUNO, STAFA, ALTIN, GARONE, CATERINA, FRANZONI, EMILIO, ABINUN, MARIO, MITCHELL, PATRICK, MITRA, DIPAYAN, FRISWELL, MARK, NELSON, JOHN, SHALEV, STAVIT A, RICE, GILLIAN I, GORNALL, HANNAH, SZYNKIEWICZ, MARCIN, AYMARD, FRANÇOIS, GANESAN, VIJEYA, PRENDIVILLE, JULIE, LIVINGSTON, JOHN H, CROW, YANICK J

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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship von Spiegel, Ronen, Mandel, Hanna, Saada, Ann, Lerer, Issy, Burger, Ayala, Shaag, Avraham, Shalev, Stavit A, Jabaly-Habib, Haneen, Goldsher, Dorit, Gomori, John M, Lossos, Alex, Elpeleg, Orly, Meiner, Vardiella

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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss von Danial-Farran, Nada, Chervinsky, Elena, Nadar-Ponniah, Prathamesh T, Cohen Barak, Eran, Taiber, Shahar, Khayat, Morad, Avraham, Karen B, Shalev, Stavit A

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MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence von Goldberg, Yael, Aleme, Ola, Peled-Perets, Lilach, Castellvi-Bel, Sergi, Nielsen, Maartje, Shalev, Stavit A.

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) von Zenker, Martin, Mayerle, Julia, Lerch, Markus M, Tagariello, Andreas, Zerres, Klaus, Durie, Peter R, Beier, Matthias, Hülskamp, Georg, Guzman, Celina, Rehder, Helga, Beemer, Frits A, Hamel, Ben, Vanlieferinghen, Philippe, Gershoni-Baruch, Ruth, Vieira, Marta W, Dumic, Miroslav, Auslender, Ron, Gil-da-Silva-Lopes, Vera L, Steinlicht, Simone, Rauh, Manfred, Shalev, Stavit A, Thiel, Christian, Winterpacht, Andreas, Kwon, Yong Tae, Varshavsky, Alexander, Reis, André

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Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis von Peled, Alon, Sarig, Ofer, Samuelov, Liat, Bertolini, Marta, Ziv, Limor, Weissglas-Volkov, Daphna, Eskin-Schwartz, Marina, Adase, Christopher A, Malchin, Natalia, Bochner, Ron, Fainberg, Gilad, Goldberg, Ilan, Sugawara, Koji, Baniel, Avital, Tsuruta, Daisuke, Luxenburg, Chen, Adir, Noam, Duverger, Olivier, Morasso, Maria, Shalev, Stavit, Gallo, Richard L, Shomron, Noam, Paus, Ralf, Sprecher, Eli

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Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy von Spiegel, Ronen, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly

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A targeted population carrier screening program for severe and frequent genetic diseases in Israel von Zlotogora, Joël, Carmi, Rivka, Lev, Boaz, Shalev, Stavit A

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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 von Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit

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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy von Sharkia, Rajech, Shalev, Stavit A., Zalan, Abdelnaser, Marom‐David, Milit, Watemberg, Nathan, Urquhart, Jill E., Daly, Sarah B., Bhaskar, Sanjeev S., Williams, Simon G., Newman, William G., Spiegel, Ronen, Azem, Abdussalam, Elpeleg, Orly, Mahajnah, Muhammad

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study... von Rice, Gillian I, PhD, Forte, Gabriella M A, MPhil, Szynkiewicz, Marcin, MSc, Chase, Diana S, PhD, Aeby, Alec, MD, Abdel-Hamid, Mohamed S, MSc, Ackroyd, Sam, MB ChB, Allcock, Rebecca, FRCPath, Bailey, Kathryn M, MRCPCH, Balottin, Umberto, MD, Barnerias, Christine, MD, Bernard, Genevieve, MD, Bodemer, Christine, PhD, Botella, Maria P, MD, Cereda, Cristina, PhD, Chandler, Kate E, MD, Dabydeen, Lyvia, MRCPCH, Dale, Russell C, PhD, De Laet, Corinne, MD, De Goede, Christian G E L, FRCPCH, del Toro, Mireia, MD, Effat, Laila, PhD, Enamorado, Noemi Nunez, MD, Fazzi, Elisa, MD, Gener, Blanca, MD, Haldre, Madli, BSc, Lin, Jean-Pierre S-M, PhD, Livingston, John H, MB ChB, Lourenco, Charles Marques, MD, Marques, Wilson, MD, Oades, Patrick, FRCPCH, Peterson, Pärt, PhD, Rasmussen, Magnhild, MD, Roubertie, Agathe, MD, Schmidt, Johanna Loewenstein, CGC, Shalev, Stavit A, MD, Simon, Rogelio, MD, Spiegel, Ronen, MD, Swoboda, Kathryn J, FACMG, Temtamy, Samia A, PhD, Vassallo, Grace, MD, Vilain, Catheline N, MD, Vogt, Julie, MRCP, Wermenbol, Vanessa, MD, Whitehouse, William P, FRCPCH, Soler, Doriette, MD, Olivieri, Ivana, MD, Orcesi, Simona, MD, Aglan, Mona S, PhD, Zaki, Maha S, PhD, Abdel-Salam, Ghada M H, PhD, Vanderver, Adeline, MD, Kisand, Kai, PhD, Rozenberg, Flore, MD, Lebon, Pierre, MD, Crow, Yanick J, Prof

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Personal journeys to and in human genetics and dysmorphology von Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog von Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian

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