An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Goldberg Y, Porat RM, Kedar I, Shochat C, Galinsky D, Hamburger T, Hubert A, Strul H, Kariiv R, Ben-Avi L, Savion M, Pikarsky E, Abeliovich D, Bercovich D, Lerer I, Peretz T. Fam Cancer. 2010 Jun;9(2):141-50.
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. Epub 2009 Mar 26. Review.
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Toledano H, Goldberg Y, Kedar-Barnes I, Baris H, Porat RM, Shochat C, Bercovich D, Pikarsky E, Lerer I, Yaniv I, Abeliovich D, Peretz T. Fam Cancer. 2009;8(3):187-94. Epub 2008 Dec 20.
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A. Am J Hum Genet. 2008 Oct;83(4):529-34.
Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. Aviram R, Kidron D, Silverstein S, Lerer I, Abeliovich D, Tepper R, Dolfin Z, Markovitch O, Arnon S. Placenta. 2008 Jul;29(7):646-9. Epub 2008 May 16. No abstract available.
Mutation spectrum in HNPCC in the Israeli population.
Goldberg Y, Porat RM, Kedar I, Shochat C, Sagi M, Eilat A, Mendelson S, Hamburger T, Nissan A, Hubert A, Kadouri L, Pikarski E, Lerer I, Abeliovich D, Bercovich D, Peretz T. Fam Cancer. 2008;7(4):309-17. Epub 2008 Apr 4.
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing. Jean A, Mansukhani M, Oberfield SE, Fennoy I, Nakamoto J, Atwan M, Lerer I, Neriah ZB, Zangen DH, Chung WK. Prenat Diagn. 2008 Jan;28(1):11-4.
A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC). Goldberg Y, Porat R, Sagi M, Eilat A, Kedar I, Shochat C, Mendelson S, Hamburger T, Nissan A, Hubert A, Shalev S, Bercovich D, Pikarski E, Lerer I, Abeliovich D, Pretetz T. Harefuah. 2007 Jul;146(7):510-4, 576, 575. Hebrew.
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. Abdulhadi-Atwan M, Jean A, Chung WK, Meir K, Ben Neriah Z, Stratigopoulos G, Oberfield SE, Fennoy I, Hirsch HJ, Bhangoo A, Ten S, Lerer I, Zangen DH. J Clin Endocrinol Metab. 2007 Oct;92(10):4000-8. Epub 2007 Jul 31.
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28.
Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia. Molho-Pessach V, Agha Z, Libster D, Lerer I, Burger A, Jaber S, Abeliovich D, Zlotogorski A. J Am Acad Dermatol. 2007 Nov;57(5):814-8. Epub 2007 Jul 20.
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer. Kadouri L, Bercovich D, Elimelech A, Lerer I, Sagi M, Glusman G, Shochat C, Korem S, Hamburger T, Nissan A, Abu-Halaf N, Badrriyah M, Abeliovich D, Peretz T. BMC Cancer. 2007 Jan 18;7:14.
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Am J Hum Genet. 2006 Nov;79(5):878-89. Epub 2006 Sep 6.
Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J. Am J Med Genet A. 2006 Aug 15;140(16):1785-8.
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A. Arch Neurol. 2006 May;63(5):756-60.
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. Epub 2005 Nov 21.
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin? Frishberg Y, Feinstein S, Rinat C, Becker-Cohen R, Lerer I, Raas-Rothschild A, Ferber B, Nir A. J Am Soc Nephrol. 2006 Jan;17(1):227-31. Epub 2005 Nov 16.
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Quint A, Lerer I, Sagi M, Abeliovich D. Am J Med Genet A. 2005 Jul 30;136(3):246-8.
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S. J Hum Genet. 2005;50(5):230-4. Epub 2005 Apr 29.
Early clinical heterogeneity in choreoacanthocytosis. Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Arch Neurol. 2005 Apr;62(4):611-4.
A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy. Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D. Am J Med Genet A. 2004 Aug 30;129A(2):176-9.
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations. Segel R, Silverstein S, Lerer I, Kahana E, Meir R, Sagi M, Zilber N, Korczyn AD, Shapira Y, Argov Z, Abeliovich D. Am J Med Genet A. 2003 Jun 15;119A(3):273-8.
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.
Raas-Rothschild A, Shteyer E, Lerer I, Nir A, Granot E, Rein AJ. Am J Med Genet. 2002 Sep 15;112(1):75-8.
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Prenat Diagn. 2002 Aug;22(8):649-51.
Wiedemann-Beckwith syndrome: further prenatal characterization of the condition. Reish O, Lerer I, Amiel A, Heyman E, Herman A, Dolfin T, Abeliovich D. Am J Med Genet. 2002 Jan 22;107(3):209-13. Review.
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. Hum Mutat. 2001 Nov;18(5):460.
A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Wang T, Lerer I, Gueta Z, Sagi M, Kadouri L, Peretz T, Abeliovich D. Genes Chromosomes Cancer. 2001 May;31(1):91-5.
The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population. Silverstein S, Lerer I, Buiting K, Abeliovich D. Am J Hum Genet. 2001 Jan;68(1):261-3. Epub 2000 Nov 17.
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Am J Med Genet. 2000 Nov 6;95(1):53-6.
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. Falik-Zaccai TC, Shachak E, Abeliovitch D, Lerer I, Shefer R, Carmi R, Ries L, Friedman M, Shohat M, Borochowitz Z. Isr Med Assoc J. 2000 Aug;2(8):601-4.
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. Hum Mutat. 2000 Apr;15(4):385-6.
A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant? Buiting K, Dittrich B, Dworniczak B, Lerer I, Abeliovich D, Cottrell S, Temple IK, Harvey JF, Lich C, Gross S, Horsthemke B. Am J Hum Genet. 1999 Dec;65(6):1588-94.
Cystic fibrosis mutations in Israeli Arab patients. Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D. Hum Mutat. 1999 Dec;14(6):543.
The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Hubert A, Peretz T, Manor O, Kaduri L, Wienberg N, Lerer I, Sagi M, Abeliovich D. Am J Hum Genet. 1999 Sep;65(3):921-4.
Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers. Kaduri L, Gibs M, Hubert A, Sagi M, Heching N, Lerer I, Uziely B, Weinberg N, Abeliovich D, Peretz T. Eur J Obstet Gynecol Reprod Biol. 1999 Jul;85(1):75-80.
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online. Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, Abeliovich D. Hum Mutat. 1999;13(4):337.
Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Friedman E, Bar-Sade Bruchim R, Kruglikova A, Risel S, Levy-Lahad E, Halle D, Bar-On E, Gershoni-Baruch R, Dagan E, Kepten I, Peretz T, Lerer I, Wienberg N, Shushan A, Abeliovich AD. Am J Hum Genet. 1998 Oct;63(4):1224-7.
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Am J Hum Genet. 1998 Jul;63(1):170-80.
The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. Lerer I, Wang T, Peretz T, Sagi M, Kaduri L, Orr-Urtreger A, Stadler J, Gutman H, Abeliovich D. Am J Hum Genet. 1998 Jul;63(1):272-4. No abstract available.
Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes. Bar M, Friedman E, Jakobovitz O, Leibowitz G, Lerer I, Abeliovich D, Gross DJ. Clin Endocrinol (Oxf). 1997 Dec;47(6):707-12.
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Arthur EI, Zlotogora J, Lerer I, Dagan J, Marks K, Abeliovich D. Eur J Hum Genet. 1997 Nov-Dec;5(6):417-9.
The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T. Am J Hum Genet. 1997 Mar;60(3):505-14.
Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abeliovich D. Prenat Diagn. 1997 Feb;17(2):180-3.
t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring. Abeliovich D, Dagan J, Lerer I, Silberstein S, Katznelson MB, Frydman M. Am J Med Genet. 1996 Dec 2;66(1):45-51.
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP. Am J Med Genet. 1996 Oct 16;65(2):133-6.
Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2. Bar-David S, Lerer I, Sarfaty CK, Kohan ZG, Meiner V, Zlotogora J, Abeliovich D. Am J Med Genet. 1996 Jul 12;64(1):83-8.
Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency. Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E. Eur J Hum Genet. 1996;4(6):338-41.
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. Eur J Hum Genet. 1996;4(1):3-7.
Predominant 45,X,--Y karyotype in donor cells after allogeneic BMT: cytogenetic and molecular analysis. Abeliovich D, Yehuda O, Nagler A, Lerer I, Ben-Neriah S, Amar A, Or R. Cancer Genet Cytogenet. 1996 Jan;86(1):1-7.
Familial café au lait spots: a variant of neurofibromatosis type 1.
Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, Zlotogora J. J Med Genet. 1995 Dec;32(12):985-6.
Homozygosity for Waardenburg syndrome. Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D. Am J Hum Genet. 1995 May;56(5):1173-8.
Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes. Abeliovich D, Dagan J, Werner M, Lerer I, Shapira Y, Meiner V. Eur J Hum Genet. 1995;3(1):49-55.
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool. Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D. Am J Med Genet. 1994 Dec 1;53(4):325-34.
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D.: Am J Med Genet. 1994 Aug 1;52(1):79-84.PMID: 7977468.
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B. Hum Mol Genet. 1994 Jun;3(6):893-5. Erratum in: Hum Mol Genet 1994 Nov;3(11):2092.
Myotonic dystrophy: molecular analysis of Israeli patients. Abeliovich D, Lerer I, Pashut-Lavon I, Cohen T. Biomed Pharmacother. 1994;48(8-9):373-80.
Negative expansion of the myotonic dystrophy unstable sequence. Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M. Am J Hum Genet. 1993 Jun;52(6):1175-81.
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. Am J Hum Genet. 1992 Nov;51(5):951-6.
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Am J Hum Genet. 1992 Jun;50(6):1185-94.
Cystic fibrosis mutations delta F508 and G542X in Jewish patients. Lerer I, Sagi M, Cutting GR, Abeliovich D. J Med Genet. 1992 Feb;29(2):131-3.
"Jumping translocation" in a 17-month-old child with mixed-lineage leukemia. Ben-Neriah S, Abramov A, Lerer I, Polliack A, Leizerowitz R, Rabinowitz R, Abeliovich D. Cancer Genet Cytogenet. 1991 Oct 15;56(2):223-9.
The delta F508 mutation in Israeli CF families. Lerer I, Cohen S, Chemke M, Friedmen A, Abeliovich D. Adv Exp Med Biol. 1991;290:365-6. No abstract available.
The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs.
Lerer I, Cohen S, Chemke M, Sanilevich A, Rivlin J, Golan A, Yahav J, Friedman A, Abeliovich D. Hum Genet. 1990 Sep;85(4):416-7.
Stimulation of proliferation of human myeloid leukemia cells in culture: applications for cytogenetic analysis. Michaeli J, Lerer I, Rachmilewitz EA, Fibach E. Blood. 1986 Sep;68(3):790-3.
Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts. Shaham M, Becker Y, Lerer I, Voss R. Cancer Res. 1983 Sep;43(9):4244-7.
Active genes are sensitive to deoxyribonuclease I during metaphase. Gazit B, Cedar H, Lerer I, Voss R. Science. 1982 Aug 13;217(4560):648-50.
Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)). Voss R, Lerer I, Maftzir G, Sheinis M, Cohen MM. Am J Med Genet. 1982 Jun;12(2):131-9.
Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Voss R, Lerer I, Povey S, Solomon E, Bobrow M. Ann Hum Genet. 1980 Jul;44(Pt 1):1-9.
Simultaneous production of mouse endogenous virus and Rous sarcoma virus by Schmidt-Ruppin virus infected mouse cells. Kotler M, Lerer I, Moyal ZB, Spira G. J Gen Virol. 1978 Jul;40(1):141-50.
Proceedings: Interaction of avian sarcoma viruses with mammalian cells. Lerer I, Kotler M. Isr J Med Sci. 1975 Nov;11(11):1210. No abstract available.