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

Por Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
Publicado no EBioMedicine (2018)

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

Por Dubov, Tom, Toledano‐Alhadef, Hagit, Bokstein, Felix, Constantini, Shlomi, Ben‐Shachar, Shay
Publicado no Mol Genet Genomic Med (2016)

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

Por Ben-Shachar, Shay, Chahrour, Maria, Thaller, Christina, Shaw, Chad A., Zoghbi, Huda Y.
Publicado em 2009

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

Por Weintrob, Naomi, Eyal, Ori, Slakman, Meital, Segev Becker, Anat, Israeli, Galit, Kalter-Leibovici, Ofra, Ben-Shachar, Shay
Publicado no PLoS One (2018)

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

Por Avnon, Tomer, Svirsky, Ran, Orr-Urtreger, Avi, Sagie, Liora, Fattal-Valevski, Aviva, Fellig, Yakov, Ben-Shachar, Shay
Publicado no J Pediatr Genet (2020)

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

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

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

Por Weintrob, Naomi, Eyal, Ori, Slakman, Meital, Segev Becker, Anat, Ish-Shalom, Maya, Israeli, Galit, Kalter-Leibovici, Ofra, Ben-Shachar, Shay
Publicado no PLoS One (2018)

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

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

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

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

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

Por Ben-Shachar, Shay, Yanai, Henit, Sherman Horev, Hadas, Elad, Hofit, Baram, Liran, Issakov, Ofer, Tulchinsky, Hagit, Pasmanik-Chor, Metsada, Shomron, Noam, Dotan, Iris
Publicado no PLoS One (2016)

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

Por Ben-Shachar, Shay, Yanai, Henit, Sherman Horev, Hadas, Elad, Hofit, Baram, Liran, Isakov, Ofer, Tulchinsky, Hagit, Pasmanik-Chor, Metsada, Shomron, Noam, Dotan, Iris
Publicado no 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

Por 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.
Publicado em 2008

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

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2008

Genetic markers of Restless Legs Syndrome in Parkinson Disease

Por 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.
Publicado no Parkinsonism Relat Disord (2015)

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

Por 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.
Publicado no Blood (2018)

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

Por 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
Publicado em 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...

Por 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
Publicado no Hum Mutat (2015)

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

Por Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Publicado no Am J Hum Genet (2018)