Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture

von Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
Veröffentlicht in EBioMedicine (2018)

The effect of parental age on the presence of de novo mutations – Lessons from neurofibromatosis type I

von Dubov, Tom, Toledano‐Alhadef, Hagit, Bokstein, Felix, Constantini, Shlomi, Ben‐Shachar, Shay
Veröffentlicht in Mol Genet Genomic Med (2016)

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

von Ben-Shachar, Shay, Chahrour, Maria, Thaller, Christina, Shaw, Chad A., Zoghbi, Huda Y.
Veröffentlicht 2009

The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities

von Weintrob, Naomi, Eyal, Ori, Slakman, Meital, Segev Becker, Anat, Israeli, Galit, Kalter-Leibovici, Ofra, Ben-Shachar, Shay
Veröffentlicht in PLoS One (2018)

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

von Avnon, Tomer, Svirsky, Ran, Orr-Urtreger, Avi, Sagie, Liora, Fattal-Valevski, Aviva, Fellig, Yakov, Ben-Shachar, Shay
Veröffentlicht in J Pediatr Genet (2020)

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation

von Ben-Shachar, Shay, Constantini, Shlomi, Hallevi, Hen, Sach, Emma K, Upadhyaya, Meena, Evans, Gareth D, Huson, Susan M
Veröffentlicht 2013

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

von Ben Shachar, Shay, Barda, Noam, Manor, Sigal, Israeli, Sapir, Dagan, Noa, Carmi, Shai, Balicer, Ran, Zisser, Bracha, Louzoun, Yoram
Veröffentlicht in J Clin Immunol (2021)

Correction: The effect of CAG repeats length on differences in hirsutism among healthy Israeli women of different ethnicities

von Weintrob, Naomi, Eyal, Ori, Slakman, Meital, Segev Becker, Anat, Ish-Shalom, Maya, Israeli, Galit, Kalter-Leibovici, Ofra, Ben-Shachar, Shay
Veröffentlicht in PLoS One (2018)

GENOME-WIDE ARRAY-BASED COPY NUMBER PROFILING IN HUMAN PLACENTAS FROM UNEXPLAINED STILLBIRTHS

von Harris, R. Alan, Ferrari, Francesca, Ben-Shachar, Shay, Wang, Xiaoling, Saade, George, Van Den Veyver, Ignatia, Facchinetti, Fabio, Aagaard-Tillery, Kjersti
Veröffentlicht 2011

Fever-induced Brugada pattern: How common is it and what does it mean?

von Adler, Arnon, Topaz, Guy, Heller, Karin, Zeltser, David, Ohayon, Tami, Rozovski, Uri, Halkin, Amir, Rosso, Raphael, Ben-Shachar, Shay, Antzelevitch, Charles, Viskin, Sami
Veröffentlicht 2013

MicroRNAs Expression in the Ileal Pouch of Patients with Ulcerative Colitis Is Robustly Up-Regulated and Correlates with Disease Phenotypes

von Ben-Shachar, Shay, Yanai, Henit, Sherman Horev, Hadas, Elad, Hofit, Baram, Liran, Issakov, Ofer, Tulchinsky, Hagit, Pasmanik-Chor, Metsada, Shomron, Noam, Dotan, Iris
Veröffentlicht in PLoS One (2016)

Correction: MicroRNAs Expression in the Ileal Pouch of Patients with Ulcerative Colitis Is Robustly Up-Regulated and Correlates with Disease Phenotypes

von Ben-Shachar, Shay, Yanai, Henit, Sherman Horev, Hadas, Elad, Hofit, Baram, Liran, Isakov, Ofer, Tulchinsky, Hagit, Pasmanik-Chor, Metsada, Shomron, Noam, Dotan, Iris
Veröffentlicht in PLoS One (2016)

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress

von Fyffe, Sharyl L., Neul, Jeff L., Samaco, Rodney C., Chao, Hsiao-Tuan, Ben-Shachar, Shay, Moretti, Paolo, McGill, Bryan E., Goulding, Evan H., Sullivan, Elinor, Tecott, Laurence H., Zoghbi, Huda Y.
Veröffentlicht 2008

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

von Liu, Pengfei, Gelowani, Violet, Zhang, Feng, Drory, Vivian E., Ben-Shachar, Shay, Roney, Erin, Medeiros, Adam C., Moore, Rebecca J., DiVincenzo, Christina, Burnette, William B., Higgins, Joseph J., Li, Jun, Orr-Urtreger, Avi, Lupski, James R.
Veröffentlicht 2014

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

von Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, Amato, Stephen, Tartaglia, Nicole, Berg, Jonathan, Sutton, V. Reid, Lalani, Seema R., Chinault, A. Craig, Cheung, Sau W., Lupski, James R., Patel, Ankita
Veröffentlicht 2008

Genetic markers of Restless Legs Syndrome in Parkinson Disease

von Gan-Or, Ziv, Alcalay, Roy N., Bar-Shira, Anat, Leblond, Claire S., Postuma, Ron B., Ben-Shachar, Shay, Waters, Cheryl, Johnson, Amelie, Levy, Oren, Mirelman, Anat, Gana-Weisz, Mali, Dupre, Nicolas, Montplaisir, Jaques, Giladi, Nir, Fahn, Stanley, Xiong, Lan, Dion, Patrick A., Orr-Urtreger, Avi, Rouleau, Guy A.
Veröffentlicht in Parkinsonism Relat Disord (2015)

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

von Magoulas, Pilar L., Shchelochkov, Oleg A., Bainbridge, Matthew N., Ben-Shachar, Shay, Yatsenko, Svetlana, Potocki, Lorraine, Lewis, Richard A., Searby, Charles, Marcogliese, Andrea N., Elghetany, M. Tarek, Zapata, Gladys, Hernández, Paula P., Gadkari, Manasi, Einhaus, Derek, Muzny, Donna M., Gibbs, Richard A., Bertuch, Alison A., Scott, Daryl A., Corvera, Silvia, Franco, Luis M.
Veröffentlicht in Blood (2018)

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics

von Rauen, Katherine A., Alsaegh, Abeer, Ben-Shachar, Shay, Berman, Yemima, Blakeley, Jaishri, Cordeiro, Isabel, Elgersma, Ype, Evans, D. Gareth, Fisher, Michael J., Frayling, Ian M., George, Joshi, Huson, Susan M., Kerr, Bronwyn, Khire, Uday, Korf, Bruce, Legius, Eric, Messiaen, Ludwine, van Minkelen, Rick, Nampoothiri, Sheela, Ngeow, Joanne, Parada, Luis F., Phadke, Shubha, Pillai, Ashok, Plotkin, Scott R., Puri, Ratna, Raji, Anup, Ramesh, Vijaya, Ratner, Nancy, Shankar, Suma P., Sharda, Sheetal, Tambe, Anant, Vikkula, Miikka, Widemann, Brigitte C., Wolkenstein, Pierre, Upadhyaya, Meena
Veröffentlicht in Am J Med Genet A (2019)

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

von Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Bleyer, Anthony J., Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne
Veröffentlicht 2014

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

von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Veröffentlicht in Hum Mutat (2015)