检索结果 - Shay Ben‐Shachar

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  1. 1
    Machine Learning–Based Gene Prioritization Identifies Novel Candidate Risk Genes for Inflammatory Bowel Disease

    Machine Learning–Based Gene Prioritization Identifies Novel Candidate Risk Genes for Inflammatory Bowel Disease 由 Ofer Isakov, Iris Dotan, Shay Ben‐Shachar

    出版 2017
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  2. 2
    Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

    Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus 由 Shay Ben‐Shachar, Maria H. Chahrour, Christina Thaller, Chad A. Shaw, Huda Y. Zoghbi

    出版 2009
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  3. 3
    MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population

    MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population 由 Shay Ben Shachar, Noam Barda, Sigal Manor, Sapir Israeli, Noa Dagan, Shai Carmi, Ran D. Balicer, Bracha Zisser, Yoram Louzoun

    出版 2021
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  4. 4
    Fever-induced Brugada pattern: How common is it and what does it mean?

    Fever-induced Brugada pattern: How common is it and what does it mean? 由 Arnon Adler, Guy Topaz, Karin Heller, David Zeltser, Tami Ohayon, Uri Rozovski, Amir Halkin, Raphaël Rosso, Shay Ben‐Shachar, Charles Antzelevitch, Sami Viskin

    出版 2013
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  5. 5
    Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

    Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress 由 Sharyl L. Fyffe, Jeffrey L. Neul, Rodney C. Samaco, Hsiao-Tuan Chao, Shay Ben‐Shachar, Paolo Moretti, Bryan E. McGill, Evan H Goulding, Elinor L. Sullivan, Laurence H. Tecott, Huda Y. Zoghbi

    出版 2008
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  6. 6
    Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

    Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication 由 Pengfei Liu, Violet Gelowani, Feng Zhang, Vivian E. Drory, Shay Ben‐Shachar, Erin K. Roney, Adam C. Medeiros, Rebecca Moore, Christina DiVincenzo, W. Bryan Burnette, Joseph Higgins, Jun Li, Avi Orr‐Urtreger, James R. Lupski

    出版 2014
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  7. 7
    22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

    22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome 由 Shay Ben‐Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan S. Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau Wai Cheung, James R. Lupski, Ankita Patel

    出版 2008
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  8. 8
    Clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes in children and young adults

    Clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes in children and young adults 由 Anirban Das, Suzanne P. MacFarland, Julia Meade, Jordan R. Hansford, Kami Wolfe Schneider, Roland P. Kuiper, Marjolijn C.J. Jongmans, Harry Lesmana, Kris Ann P. Schultz, Kim E. Nichols, Carol Durno, Kristin Zelley, Christopher C. Porter, Lisa J. States, Shay Ben‐Shachar, Sharon A. Savage, Jennifer M. Kalish, Michael F. Walsh, Hamish S. Scott, Sharon E. Plon, Uri Tabori

    出版 2024
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  9. 9
    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders 由 Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Mohammad M. Qasaymeh, Lorraine Potocki, Sandesh C. Sreenath Nagamani, Luis M. Franco, Amy D. Malphrus, G W Bottenfield, J. Edward Spence, Stephen Amato, Justine Rousseau, Billur Moghaddam, Cindy Skinner, Steven A. Skinner, Saunder Bernes, Nicole L. Armstrong, Marwan Shinawi, Paweł Stankiewicz, Ankita Patel, SW Cheung, James R. Lupski, Arthur L. Beaudet, Trilochan Sahoo

    出版 2009
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  10. 10
    Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2 mRNA vaccinated individuals

    Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2 mRNA vaccinated individuals 由 Talia Kustin, Noam Harel, Uriah Finkel, Shay Perchik, Sheri Harari, Maayan Tahor, Itamar Caspi, Rachel Levy, Michael Leschinsky, Shifra Ken Dror, Galit Bergerzon, Hala Gadban, Faten Gadban, Eti Eliassian, Orit Shimron, Loulou Saleh, Haim Ben‐Zvi, Doron Amichay, Anat Ben-Dor, Dana Sagas, Merav Strauss, Yonat Shemer Avni, Amit Huppert, Eldad Kepten, Ran D. Balicer, Doron Nezer, Shay Ben‐Shachar, Adi Stern

    出版 2021
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  11. 11
    Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis

    Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis 由 Omer Goldman, Lital N. Adler, Emma Hajaj, Tommaso Croese, Naama Darzi, Sivan Galai, Hila Tishler, Yarden Ariav, Dor Lavie, Liat Fellus-Alyagor, Roni Oren, Yuri Kuznetsov, Eyal David, Rami Jaschek, Chani Stossel, Oded Singer, Sergey Malitsky, Renana Barak, Rony Seger, Neta Erez, Ido Amit, Amos Tanay, Ann Saada, Talia Golan, Tamar Rubinek, Joo Sang Lee, Shay Ben‐Shachar, Ido Wolf, Ayelet Erez

    出版 2023
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  12. 12
    Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals

    Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals 由 Talia Kustin, Noam Harel, Uriah Finkel, Shay Perchik, Sheri Harari, Maayan Tahor, Itamar Caspi, Rachel Levy, Michael Leshchinsky, Shifra Ken Dror, Galit Bergerzon, Hala Gadban, Faten Gadban, Eti Eliassian, Orit Shimron, Loulou Saleh, Haim Ben‐Zvi, Elena Keren Taraday, Doron Amichay, Anat Ben-Dor, Dana Sagas, Merav Strauss, Yonat Shemer Avni, Amit Huppert, Eldad Kepten, Ran D. Balicer, Doron Netzer, Shay Ben‐Shachar, Adi Stern

    出版 2021
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  13. 13
    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 由 Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald A. Hladik, Philip J. Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam S. Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen J. Vogel, Frederic F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, André Mégarbané, Paul L. Kimmel, C. John Sperati, Avi Orr‐Urtreger, Shay Ben‐Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Kateřina Hodaňová, Petr Vyleťal, Martina Živná, Thomas C. Hart, P. Suzanne Hart

    出版 2014
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  14. 14
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... 由 Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    出版 2015
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  15. 15
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 由 Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    出版 2017
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  16. 16
    Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

    Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 由 Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Miriam J. Smith, Anat Stemmer‐Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan Huson, P. Wolkenstein, D. Gareth Evans, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, K.H. Ly, Justin T. Jordan, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

    出版 2022
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  17. 17
    Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

    Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance 由 Carol Durno, Ayse B. Ercan, Vanessa Bianchi, Melissa Edwards, Melyssa Aronson, Melissa A. Galati, Eshetu G. Atenafu, Gadi Abebe‐Campino, Abeer Al-Battashi, Musa Alharbi, Vahid Fallah Azad, Hagit Baris, Donald Basel, Raymond Bedgood, Anne Bendel, Shay Ben‐Shachar, Deborah T. Blumenthal, Maude L. Blundell, Miriam Bornhorst, Annika Bronsema, Elizabeth Cairney, Sara Rhode, Shani Caspi, Aghiad Chamdin, Stefano Chiaravalli, Shlomi Constantini, Bruce Crooks, Anirban Das, Rina Dvir, Roula Farah, William D. Foulkes, Z Frenkel, Bailey Gallinger, Sharon L. Gardner, David Gass, Mithra Ghalibafian, Catherine Gilpin, Yael Goldberg, Catherine Goudie, Syed Ahmer Hamid, Heather Hampel, Jordan R. Hansford, Craig Harlos, Nobuko Hijiya, Saunders Hsu, Junne Kamihara, Rejin Kebudi, Jeffrey Knipstein, Carl Koschmann, Christian P. Kratz, Valérie Larouche, Álvaro Lassaletta, Scott Lindhorst, Simon C. Ling, Michael P. Link, Rebecca Loret De Mola, Rebecca C. Luiten, Michal Lurye, Jamie L. Maciaszek, Vanan MagimairajanIssai, Ossama Maher, Maura Massimino, Rose B. McGee, Naureen Mushtaq, Gary Mason, Monica Newmark, Garth Nicholas, Kim E. Nichols, Theodore Nicolaides, Enrico Opocher, Michael Osborn, Benjamin Oshrine, Rachel Pearlman, Daniel Pettee, Jan Rapp, Mohsin Rashid, Alyssa Reddy, Lara Reichman, Marc Remke, Gabriel Robbins, Sumita Roy, Magnus Sabel, David Samuel, Isabelle Scheers, Kami Wolfe Schneider, Santanu Sen, Duncan Stearns, David Sumerauer, Carol J. Swallow, Leslie M. Taylor, Gregory A. Thomas, Helen Toledano, Patrick Tomboc, An Van Damme, Ira Winer, Michal Yalon, Yi‐Yen Lee, Michal Zápotocký, Shayna Zelcer, David S. Ziegler

    出版 2021
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  18. 18
    Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

    Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation 由 Eric Legius, Ludwine Messiaen, P. Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Karin Soares Cunha, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Anat Stemmer‐Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David A. Stevenson, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C. Oliver Hanemann, Helen Hanson, Arvid Heiberg, K.H. Ly, Michel Kalamarides, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, D. Gareth Evans, Scott R. Plotkin

    出版 2021
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  19. 19
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 由 Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    出版 2021
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