Ephrat Levy-Lahad

Summary

Affiliation: Shaare Zedek Medical Center
Country: Israel

Publications

  1. pmc A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers
    E Levy-Lahad
    Medical Genetics Unit, Shaare Zedek Medical Center and Hebrew University Hadassah Medical School, P O Box 3235, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 98:3232-6. 2001
  2. ncbi request reprint Cancer. A risky business--assessing breast cancer risk
    Ephrat Levy-Lahad
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel
    Science 302:574-5. 2003
  3. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
  4. doi request reprint Fanconi anemia and breast cancer susceptibility meet again
    Ephrat Levy-Lahad
    Medical Genetics Institute, Shaare Zedek Medical Center Hebrew University, Jerusalem, Israel
    Nat Genet 42:368-9. 2010
  5. pmc Cancer risks among BRCA1 and BRCA2 mutation carriers
    E Levy-Lahad
    Institute of Medical Genetics, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, 91031, Israel
    Br J Cancer 96:11-5. 2007
  6. doi request reprint Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel
    Prenat Diagn 31:853-60. 2011
  7. ncbi request reprint Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease
    Gheona Altarescu
    Medical Genetics, Zohar PGD Lab, Shaare Zedek Medical Centre, POB 3235, Jerusalem, Israel
    Reprod Biomed Online 15:83-8. 2007
  8. ncbi request reprint Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism
    Michael Kaplan
    Department of Neonatology, Clinical Genetics Service, Shaare Zedek Medical Center, Faculty of Medicine of the Hebrew University, Jerusalem, Israel
    Hepatology 35:905-11. 2002
  9. doi request reprint PGD for germline mosaicism
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit Shaare Zedek Medical Center, Jerusalem, Israel
    Reprod Biomed Online 25:390-5. 2012
  10. pmc Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel
    J Assist Reprod Genet 26:391-7. 2009

Collaborators

Detail Information

Publications31

  1. pmc A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers
    E Levy-Lahad
    Medical Genetics Unit, Shaare Zedek Medical Center and Hebrew University Hadassah Medical School, P O Box 3235, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 98:3232-6. 2001
    ..RAD51 status did not affect ovarian cancer risk. These results show RAD51-135C is a clinically significant modifier of BRCA2 penetrance, specifically in raising breast cancer risk at younger ages...
  2. ncbi request reprint Cancer. A risky business--assessing breast cancer risk
    Ephrat Levy-Lahad
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel
    Science 302:574-5. 2003
  3. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
    ..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity...
  4. doi request reprint Fanconi anemia and breast cancer susceptibility meet again
    Ephrat Levy-Lahad
    Medical Genetics Institute, Shaare Zedek Medical Center Hebrew University, Jerusalem, Israel
    Nat Genet 42:368-9. 2010
    ..These findings strengthen the link between Fanconi anemia and breast cancer-associated pathways...
  5. pmc Cancer risks among BRCA1 and BRCA2 mutation carriers
    E Levy-Lahad
    Institute of Medical Genetics, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, 91031, Israel
    Br J Cancer 96:11-5. 2007
    ..Underlying this variability are methodological issues, and also complex genetic and nongenetic effects. Although many modifying factors are unidentified, known factors can already be incorporated in individualised risk prediction...
  6. doi request reprint Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel
    Prenat Diagn 31:853-60. 2011
    ..Furthermore, we report the first ever derivation of a Hunter's syndrome (46, XX) human stem cell line from embryos (HESC) carrying the IDS and oculocutaneus albinism type 2 mutations...
  7. ncbi request reprint Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease
    Gheona Altarescu
    Medical Genetics, Zohar PGD Lab, Shaare Zedek Medical Centre, POB 3235, Jerusalem, Israel
    Reprod Biomed Online 15:83-8. 2007
    ..So far as is known, this is the first report of concomitant PGD for two frequent Ashkenazi Jewish recessive disorders...
  8. ncbi request reprint Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism
    Michael Kaplan
    Department of Neonatology, Clinical Genetics Service, Shaare Zedek Medical Center, Faculty of Medicine of the Hebrew University, Jerusalem, Israel
    Hepatology 35:905-11. 2002
    ..The increased hemolysis may contribute to the pathogenesis of increased STB values seen in Gilbert's syndrome, and exacerbate neonatal hyperbilirubinemia associated with the promoter polymorphism...
  9. doi request reprint PGD for germline mosaicism
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit Shaare Zedek Medical Center, Jerusalem, Israel
    Reprod Biomed Online 25:390-5. 2012
    ..Both families delivered healthy children following IVF/PGD. In conclusion, germline mosaicism complicates allele assignment when constructing haplotypes for PGD. Sperm analysis is a useful tool for verifying allelic linkage...
  10. pmc Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy
    Gheona Altarescu
    Medical Genetics Institute, Zohar PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel
    J Assist Reprod Genet 26:391-7. 2009
    ..Development of an efficient and reliable PGD protocol for nonsyndromic deafness, by polar body (PB) and blastomere PGD...
  11. ncbi request reprint Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases
    Gheona Altarescu
    Preimplantation Genetic Unit, Zohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    J Pediatr Endocrinol Metab 24:543-8. 2011
    ....
  12. doi request reprint Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay
    David A Zeevi
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Hum Mutat 34:792-9. 2013
    ..The method was also sensitive enough to detect unexpected germline mosaicism in one mutation carrier...
  13. doi request reprint Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model
    Gheona Altarescu
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:15-8. 2011
    ..Most cases involve severe genetic diseases with neurological features and/or major malformations. We present two couples in which PGD was performed for prevention of type 1 Gaucher disease, a non-neuronopathic, non-lethal disorder...
  14. doi request reprint Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies
    Gheona Altarescu
    Medical Genetics Institute, Zohar Preimplantation Genetic Diagnosis Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel
    Obstet Gynecol 119:338-43. 2012
    ....
  15. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  16. ncbi request reprint (TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonates
    Michael Kaplan
    Department of Neonatology, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Pediatr Res 61:727-31. 2007
    ..8 +/- 3.4 mg/dL, p = 0.02). In the steady state, similar rates of hemolysis, but increased PTB in the G-6-PD- deficient, (TA)7/(TA)7 homozygotes, imply that (TA)7/(TA)7, homozygosity is central to increased PTB...
  17. pmc Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis
    Gheona Altarescu
    ZOHAR PGD Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel School of Medicine, The Hebrew University, Jerusalem, Israel
    Mol Biol Int 2012:797342. 2012
    ..In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research...
  18. ncbi request reprint BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening
    Shiri Shkedi-Rafid
    The Department of Human Genetics, Institute for Medical Research, The Hebrew University of Jerusalem, Jerusalem, Israel
    Genet Med 14:688-94. 2012
    ..This study aimed to explore (i) the impact of a positive BRCA genetic test result on individuals who have neither a personal history nor a familial history of cancer and (ii) their attitudes toward the concept of population screening...
  19. doi request reprint Conflicts regarding genetic counseling for fragile X syndrome screening: a survey of clinical geneticists and genetic counselors in Israel
    Sari Lieberman
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Med Genet A 155:2154-60. 2011
    ..We demonstrated a conflict between the detailed amount of information, which should be given prior to the test in order to allow informed decisions and the overload of information, which may cause confusion...
  20. doi request reprint PGD for fragile X syndrome: ovarian function is the main determinant of success
    Avi Tsafrir
    IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel
    Hum Reprod 25:2629-36. 2010
    ..We investigated IVF-PGD in FRAX mutation carriers compared with controls, looking at the effects of oocyte and embryo number/quality on live birth outcome...
  21. doi request reprint Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations
    Gheona Altarescu
    Hebrew University School of Medicine, Jerusalem, Israel
    Hum Reprod 24:3225-9. 2009
    ..We constructed haplotypes based on linked polymorphic markers in these families and performed concurrent diagnosis enabling embryo transfer from the first PGD cycle...
  22. ncbi request reprint Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases
    Shachar Zuckerman
    Hebrew University Hadassah Medical School, Jerusalem, Israel
    JAMA 298:1281-90. 2007
    ..Carrier screening for GD is controversial because common type 1 GD is often asymptomatic and effective treatment exists. However, screening is offered to Ashkenazi Jews worldwide and has been offered in Israel since 1995...
  23. doi request reprint PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis
    Gheona Altarescu
    Medical Genetics Unit, Zohar PGD Lab, Shaare Zedek Medical Center, Jerusalem, Israel
    Prenat Diagn 28:929-33. 2008
    ..Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes...
  24. doi request reprint A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)
    Ziva Ben-Neriah
    Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 155:2801-6. 2011
    ..Our findings confirm loss of BMPER function as a cause of axial versus appendicular skeletal defects, and suggest that less deleterious mutations may be involved in milder axial skeleton abnormalities...
  25. pmc Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis
    Gheona Altarescu
    ZOHAR PGD Unit, Medical Genetics Institute, Shaare Zedek Medical Center, POB 3235, Jerusalem, Israel
    J Assist Reprod Genet 28:233-8. 2011
    ..Due to excessive recombination in this region, the deletion can be found in male offspring...
  26. pmc XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription
    David Zangen
    Division of Pediatric Endocrinology, Hadassah Hebrew University Medical School, Jerusalem, Israel
    Am J Hum Genet 89:572-9. 2011
    ..By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated...
  27. doi request reprint Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
    Reeval Segel
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Med Genet A 149:2457-63. 2009
    ..We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes...
  28. ncbi request reprint (TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates
    Michael Kaplan
    Department of Neonatology, Shaare Zedek Medical Center, Faculty of Medicine of the Hebrew University, Jerusalem 91031, Israel
    Pediatr Res 63:109-11. 2008
    ..001), and no (TA)8 alleles were encountered. The high frequency of (TA)n promoter polymorphism, coupled with G-6-PD deficiency, may contribute to the pathogenesis of extreme neonatal hyperbilirubinemia in Nigeria...
  29. doi request reprint BRCA mutation carriers do not have compromised ovarian reserve
    Rachel Michaelson-Cohen
    Noga BRCA Carrier Surveillance Clinic, Department of Gynecology, and Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel
    Int J Gynecol Cancer 24:233-7. 2014
    ..Previous studies are small or based on indirect parameters (eg, self-reported infertility), which depend on additional factors unrelated to true fertility potential. Most of the previous studies did not use strict fertility markers...
  30. pmc Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene
    Paul Renbaum
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hum Genet 85:281-9. 2009
    ..Its identification as a gene involved in SMA-PCH implies new roles for the VRK proteins in neuronal development and maintenance and suggests the VRK genes as candidates for related phenotypes...
  31. doi request reprint Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue
    Hadile Ounallah-Saad
    Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel
    Gene 446:81-9. 2009
    ..Differential Psen2 regulation in human and mouse has implications for Alzheimer disease mouse models...