R. Spiegel, Y. Horovitz, H. Peters, F. Erdogan, I. Chervinsky, SA. Shalev. A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. Am J Med Genet, 149A(12): 2655-60, 2009.
J. Zlotogora, R. Carmi, B. Lev, SA. Shalev. A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet, 17(5): 591-597, 2009.
R. Spiegel, ST. Cliffe, MF. Buckley, YJ. Crow, J. Urquhart, Y. Horovitz, Y. Tenenbaum-Rakover, WG. Newman, D. Donnai, SA. Shalev. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet. 53(5):309-13, 2010.
Z. Brownstein Z, LM. Friedman , H. Shahin, V. Oron-Karni, N. Kol, AA. Rayyan, T. Parzefall, D. Lev, S. Shalev, M. Frydman, B. Davidov, M. Shohat, M. Rahile, S. Lieberman, E. Levy-Lahad, MK. Lee, N. Shomron, MC. King, T. Walsh, M. Kanaan, KB. Avraham. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol. 2011 Sep 14;12(9):R89.
C. Thiel, K. Kessler, A. Giessl, A. Dimmler, SA. Shalev, S. von der Haar, M. Zenker, D. Zahnleiter, H. Stöss, E. Beinder, R. Abou Jamra, AB. Ekici, N. Schröder-Kreß, T. Aigner, T. Kirchner, A. Reis, JH. Brandstätter, A. Rauch. NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski. Am J Hum Genet. 7;88(1):106-114, 2011.
S. Banka, E. Chervinsky, WG. Newman, YJ. Crow, S. Yeganeh, J. Yacobovich, D. Donnai, S. Shalev. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet. 2011 19(1):18-22, 2011.
M. Khayat, H. Hardouf, J. Zlotogora, SA Shalev. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Am J Med Genet A. 152A(12):3091-3094, 2010.
J. Mahamid, A. Lorber, Y. Horovitz, SA. Shalev, GB. Collin, JK. Naggert, JD. Marshall, R. Spiegel. Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome. Pediatr Cardiol. 34(2):455-8, 2013.
W. Sakran, SA. Shalev, H. El-Shanti, Y.Uziel. Chronic Recurrent Multifocal Osteomyelitis and Deficiency of Interleukin-1-receptor Antagonist. Pediatr Infect Dis J. 32(1):94, 2013
C Levin, L Zalman, H Tamary, T Krasnov, M Khayat, S Shalev, I Salama, A Koren. Small-Platelet Thrombocytopenia in a Family With Autosomal Recessive Inheritance Pattern. Pediatr Blood Cancer. 60(10):E128-30, 2013.
SA Shalev, Y Tenenbaum-Rakover, Y Horovitz, VP Paz, H Ye, D Carmody, HM Highland, E Boerwinkle, CL Hanis, DM Muzny, RA Gibbs, GI Bell, LH Philipson, SA Greeley. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 15(3):252-6, 2014
R. Spiegel, H. Mandel, A. Saada, I. Lerer, A. Burger, A. Shaag, SA. Shalev, H. Jabaly-Habib, D. Goldsher, JM. Gomori, A. Lossos, O. Elpeleg, V. Meiner. Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]
J. Zlotogora, SA. Shalev. A long-term follow up of premarital counseling in the Israeli Arab population. J Community Genet. 2014 Jun 29. [Epub ahead of print]
J. Zlotogora, SA. Shalev. Marriage pattern and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period. Hum Hered. 77:10-15, 2014.
M. Gal, EY. Levanon, Y. Hujeirat, M. Khayat, J. Pe'er, S. Shalev. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. Am J Med Genet A. 2014 Sep 22. doi: 10.1002/ajmg.a.36739. [Epub ahead of print]
H. Mandel, KC. Katsanelson, M. Khayat, I. Chervinsky, E. Vladovski, TC. Iancu, M. Indelman, Y. Horovitz, E. Sprecher, SA. Shalev, R. Spiegel. Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. Eur J Med Genet. 2014 Sep 27. pii: S1769-7212(14)00183-9. doi: 10.1016/j.ejmg.2014.09.004. [Epub ahead of print]
R. Spiegel, A. Saada, J. Halvardson, D. Soiferman, A. Shaag, S. Edvardson, Y. Horovitz, M. Khayat, SA. Shalev, L. Feuk, O. Elpeleg. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 22: 902-906, 2014.
R. Gilbar, S. Shalev, R. Spiegel, E. Pras, M. Berkenstadt, M. Sagi, A. Ben-Yehuda, P. Mor, S. Perry, TF. Zaccai, Z. Borochowitz, S. Barnoy. Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience. J Genet Couns 25(2): 314-324, 2016
U. Aalimi, E. Spiegel, I. Chervinsky, T. Attie-Bitach, N. Elkhartoufi, S. Saunier, M. Vekemans, U. Abulil-Zuabi, M. Chemke, R. Spiegel, S. Shalev. High incidence and broad genetic variability of Meckel Gruber syndrome in the Arab population residing in north-east Israel. Harefua 154(10): 632-636, 2015.
M. Gal, EY. Levanon, Y. Hujeirat, M. Khayat, J. Pe'er, S. Shalev. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. Am J Med Genet A. 164A(12):2996-3002, 2014.
H. Mandel, KC. Katsanelson, M. Khayat, I. Chervinsky, E. Vladovski, TC. Iancu, M. Indelman, Y. Horovitz, E. Sprecher, SA. Shalev, R. Spiegel. Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. Eur J Med Genet. 57(11-12): 607-12, 2014
SA. Shalev, M Khayat, E. Daniel-Spiegel, O. Elpeleg. Further Insight into the Phenotype Associated with a Mutation in the ORC6 Gene, Causing Meier-Gorlin Syndrome 3. Am J Med Genet A. 167(3):607-11, 2015.
R. Sharkia, J. Tarabeia, A. Zalan, E. Atamany, M. Athamna, S. Allon-Shalev. Factors affecting the utilization of genetic counseling services among Israeli Arab women. Prenat Diagn. 35(4):370-5, 2015
G. Heimer, D. Oz-Levi, E. Eyal, S. Edvardson, A. Nissenkorn, EK. Ruzzo, A. Szeinberg, C. Maayan, M. Mai-Zahav, O. Efrati, E. Pras, H. Reznik-Wolf, D. Lancet, DB. Goldstein, Y. Anikster
SA. Shalev, O. Elpeleg, B. Ben Zeev. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 20(1):69-79, 2016.
R. Spiegel, A. Saada, PJ.Flannery, F. Burté, D. Soiferman, M. Khayat, VE. Sagüés, E. Vladovski, RW. Taylor, LA. Bindoff7, A. Shaag, H. Mandel, O. Furman, SA. Shalev, O. Elpeleg, P. Yu-Wai-Man. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J Med Genet 53(2): 127-131, 2016.
JE. Urquhart, G. Beaman, H. Byers, NA. Roberts, E. Chervinsky, JO. Sullivan, D. Pilz, A. Fry, SG. Williams, SS. Bhaskar SS, M. Khayat, N. Simanovsky, I. Ben Shachar, SA. Shalev*, WG. Newman*. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clin Genet 89(6): 724-727, 2016.
