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

অনুযায়ী Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
প্রকাশিত EBioMedicine (2018)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

অনুযায়ী Ben-Shachar, Shay, Yanai, Henit, Sherman Horev, Hadas, Elad, Hofit, Baram, Liran, Isakov, Ofer, Tulchinsky, Hagit, Pasmanik-Chor, Metsada, Shomron, Noam, Dotan, Iris
প্রকাশিত 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

অনুযায়ী 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.
প্রকাশিত 2008

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

অনুযায়ী 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.
প্রকাশিত 2014

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

অনুযায়ী 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
প্রকাশিত 2008

Genetic markers of Restless Legs Syndrome in Parkinson Disease

অনুযায়ী 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.
প্রকাশিত Parkinsonism Relat Disord (2015)

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

অনুযায়ী 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.
প্রকাশিত Blood (2018)

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

অনুযায়ী 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
প্রকাশিত Am J Med Genet A (2019)

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

অনুযায়ী 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
প্রকাশিত 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...

অনুযায়ী 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
প্রকাশিত Hum Mutat (2015)