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

Yazar: Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
Yayımlandı EBioMedicine (2018)

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

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

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

Yazar: Ben-Shachar, Shay, Chahrour, Maria, Thaller, Christina, Shaw, Chad A., Zoghbi, Huda Y.
Baskı/Yayın Bilgisi 2009

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

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

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

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

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

Yazar: Ben-Shachar, Shay, Constantini, Shlomi, Hallevi, Hen, Sach, Emma K, Upadhyaya, Meena, Evans, Gareth D, Huson, Susan M
Baskı/Yayın Bilgisi 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

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

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

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

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

Yazar: Harris, R. Alan, Ferrari, Francesca, Ben-Shachar, Shay, Wang, Xiaoling, Saade, George, Van Den Veyver, Ignatia, Facchinetti, Fabio, Aagaard-Tillery, Kjersti
Baskı/Yayın Bilgisi 2011

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

Yazar: Adler, Arnon, Topaz, Guy, Heller, Karin, Zeltser, David, Ohayon, Tami, Rozovski, Uri, Halkin, Amir, Rosso, Raphael, Ben-Shachar, Shay, Antzelevitch, Charles, Viskin, Sami
Baskı/Yayın Bilgisi 2013

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

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

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

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

Yazar: 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.
Baskı/Yayın Bilgisi 2008

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

Yazar: 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.
Baskı/Yayın Bilgisi 2014

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

Yazar: 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
Baskı/Yayın Bilgisi 2008

Genetic markers of Restless Legs Syndrome in Parkinson Disease

Yazar: 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.
Yayımlandı Parkinsonism Relat Disord (2015)

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

Yazar: 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.
Yayımlandı Blood (2018)

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

Yazar: 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
Yayımlandı Am J Med Genet A (2019)

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

Yazar: 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
Baskı/Yayın Bilgisi 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...

Yazar: 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
Yayımlandı Hum Mutat (2015)