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Items: 1 to 50 of 149

1.

Analysis of the genetic basis of height in large Jewish nuclear families.

Zeevi D, Bloom JS, Sadhu MJ, Ben Yehuda A, Zangen D, Levy-Lahad E, Kruglyak L.

PLoS Genet. 2019 Jul 8;15(7):e1008082. doi: 10.1371/journal.pgen.1008082. eCollection 2019 Jul.

2.

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.

Lieberman S, Beeri R, Walsh T, Schechter M, Keret D, Half E, Gulsuner S, Tomer A, Jacob H, Cohen S, Basel-Salmon L, Mansur M, Berger R, Katz LH, Golomb E, Peretz T, Levy Z, Kedar I, King MC, Levy-Lahad E, Goldberg Y.

Clin Transl Gastroenterol. 2019 Jul 1. doi: 10.14309/ctg.0000000000000054. [Epub ahead of print]

PMID:
31259752
3.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O.

Eur J Hum Genet. 2019 Aug;27(8):1315-1319. doi: 10.1038/s41431-019-0380-y. Epub 2019 Apr 11.

PMID:
30976112
4.

BRCA2 in Ovarian Development and Function. Reply.

Zangen D, King MC, Levy-Lahad E.

N Engl J Med. 2019 Mar 14;380(11):1087. doi: 10.1056/NEJMc1813800. No abstract available.

PMID:
30865814
5.

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.

Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer.

Cancer. 2019 Mar 1;125(5):698-703. doi: 10.1002/cncr.31842. Epub 2018 Nov 29.

PMID:
30489631
6.

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.

Backenroth D, Zahdeh F, Kling Y, Peretz A, Rosen T, Kort D, Zeligson S, Dror T, Kirshberg S, Burak E, Segel R, Levy-Lahad E, Zangen D, Altarescu G, Carmi S, Zeevi DA.

Genet Med. 2019 Jun;21(6):1390-1399. doi: 10.1038/s41436-018-0351-7. Epub 2018 Nov 19.

PMID:
30449887
7.

American Funding Cutback to East Jerusalem Hospitals: A Blow to the Health of the City.

Clarfield AM, Skorecki K, Paltiel O, Glick SM, Beyar R, Ben Yehuda D, Carmi R, Gil Z, Billan S, Azzam Z, Basis F, Levy-Lahad E, Lahad A, Izraeli S, Turner D, Halevy Y.

Am J Public Health. 2018 Dec;108(12):1624-1625. doi: 10.2105/AJPH.2018.304792. No abstract available.

8.

Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.

Zeevi DA, Zahdeh F, Kling Y, Rosen T, Renbaum P, Ron-El R, Eldar-Geva T, Holzer HEG, Levy-Lahad E, Altarescu G.

Sci Rep. 2018 Oct 29;8(1):15941. doi: 10.1038/s41598-018-34396-6.

9.

Essential Role of BRCA2 in Ovarian Development and Function.

Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.

N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.

10.

Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.

Vinograd-Byk H, Renbaum P, Levy-Lahad E.

Sci Rep. 2018 Jul 26;8(1):11265. doi: 10.1038/s41598-018-29215-x.

11.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R.

J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15.

PMID:
29764912
12.

Familial communication and cascade testing among relatives of BRCA population screening participants.

Lieberman S, Lahad A, Tomer A, Koka S, BenUziyahu M, Raz A, Levy-Lahad E.

Genet Med. 2018 Nov;20(11):1446-1454. doi: 10.1038/gim.2018.26. Epub 2018 Mar 29.

PMID:
29595811
13.

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Toland AE, Forman A, Couch FJ, Culver JO, Eccles DM, Foulkes WD, Hogervorst FBL, Houdayer C, Levy-Lahad E, Monteiro AN, Neuhausen SL, Plon SE, Sharan SK, Spurdle AB, Szabo C, Brody LC; BIC Steering Committee.

NPJ Genom Med. 2018 Feb 15;3:7. doi: 10.1038/s41525-018-0046-7. eCollection 2018.

14.

Human Embryo Editing: Opportunities and Importance of Transnational Cooperation.

Pei D, Beier DW, Levy-Lahad E, Marchant G, Rossant J, Izpisua Belmonte JC, Lovell-Badge R, Jaenisch R, Charo A, Baltimore D.

Cell Stem Cell. 2017 Oct 5;21(4):423-426. doi: 10.1016/j.stem.2017.09.010.

15.

Brain calcifications and PCDH12 variants.

Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM.

Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug.

16.

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.

Manchanda R, Patel S, Antoniou AC, Levy-Lahad E, Turnbull C, Evans DG, Hopper JL, Macinnis RJ, Menon U, Jacobs I, Legood R.

Am J Obstet Gynecol. 2017 Nov;217(5):578.e1-578.e12. doi: 10.1016/j.ajog.2017.06.038. Epub 2017 Jul 6.

17.

Medical genetics in Israel's diverse population.

Shalev SA, Zlotogora J, Shalata A, Levy-Lahad E.

Lancet. 2017 Jun 24;389(10088):2453-2455. doi: 10.1016/S0140-6736(17)30875-9. Epub 2017 May 8. No abstract available.

PMID:
28495108
18.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

19.

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.

Lieberman S, Walsh T, Schechter M, Adar T, Goldin E, Beeri R, Sharon N, Baris H, Ben Avi L, Half E, Lerer I, Shirts BH, Pritchard CC, Tomlinson I, King MC, Levy-Lahad E, Peretz T, Goldberg Y.

Gastroenterology. 2017 Jun;152(8):1876-1880.e1. doi: 10.1053/j.gastro.2017.02.014. Epub 2017 Feb 24.

PMID:
28242209
20.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T.

Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.

21.

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

Lieberman S, Tomer A, Ben-Chetrit A, Olsha O, Strano S, Beeri R, Koka S, Fridman H, Djemal K, Glick I, Zalut T, Segev S, Sklair M, Kaufman B, Lahad A, Raz A, Levy-Lahad E.

Genet Med. 2017 Jul;19(7):754-762. doi: 10.1038/gim.2016.182. Epub 2016 Dec 8.

PMID:
27929526
22.

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience.

Lieberman S, Lahad A, Tomer A, Cohen C, Levy-Lahad E, Raz A.

Genet Med. 2017 Jun;19(6):628-634. doi: 10.1038/gim.2016.175. Epub 2016 Dec 1.

PMID:
27906198
23.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E.

Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29.

24.

A role for TENM1 mutations in congenital general anosmia.

Alkelai A, Olender T, Haffner-Krausz R, Tsoory MM, Boyko V, Tatarskyy P, Gross-Isseroff R, Milgrom R, Shushan S, Blau I, Cohn E, Beeri R, Levy-Lahad E, Pras E, Lancet D.

Clin Genet. 2016 Sep;90(3):211-9. doi: 10.1111/cge.12782. Epub 2016 May 31.

PMID:
27040985
25.

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E.

Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2.

PMID:
26925547
26.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D.

J Clin Invest. 2015 Nov 2;125(11):4295-304. doi: 10.1172/JCI83553. Epub 2015 Oct 20.

27.

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.

Epsztejn-Litman S, Cohen-Hadad Y, Aharoni S, Altarescu G, Renbaum P, Levy-Lahad E, Schonberger O, Eldar-Geva T, Zeligson S, Eiges R.

PLoS One. 2015 Oct 16;10(10):e0138893. doi: 10.1371/journal.pone.0138893. eCollection 2015.

28.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A.

J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31.

29.

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.

Altarescu G, Beeri R, Lazer-Derbeko G, Eldar-Geva T, Steinberg A, Levy-Lahad E, Renbaum P.

Reprod Biomed Online. 2015 Nov;31(5):706-10. doi: 10.1016/j.rbmo.2015.07.002. Epub 2015 Jul 17.

PMID:
26380867
30.

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.

Gazy I, Zeevi DA, Renbaum P, Zeligson S, Eini L, Bashari D, Smith Y, Lahad A, Goldberg M, Ginsberg D, Levy-Lahad E.

PLoS One. 2015 Jul 31;10(7):e0134120. doi: 10.1371/journal.pone.0134120. eCollection 2015.

31.

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.

Yanovsky-Dagan S, Avitzour M, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, Mitrani-Rosenbaum S, Levy-Lahad E, Birnbaum RY, Gepstein L, Epsztejn-Litman S, Eiges R.

Stem Cell Reports. 2015 Aug 11;5(2):221-31. doi: 10.1016/j.stemcr.2015.06.003. Epub 2015 Jul 16.

32.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D.

J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12.

PMID:
26070314
33.

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.

Cantarero L, Sanz-García M, Vinograd-Byk H, Renbaum P, Levy-Lahad E, Lazo PA.

Sci Rep. 2015 Jun 12;5:10543. doi: 10.1038/srep10543.

34.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D.

J Med Genet. 2015 Jun;52(6):391-9. doi: 10.1136/jmedgenet-2014-102921. Epub 2015 Apr 14.

PMID:
25873734
35.

Copy number variations in cryptogenic cerebral palsy.

Segel R, Ben-Pazi H, Zeligson S, Fatal-Valevski A, Aran A, Gross-Tsur V, Schneebaum-Sender N, Shmueli D, Lev D, Perlberg S, Blumkin L, Deutsch L, Levy-Lahad E.

Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27.

PMID:
25817843
36.

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study.

Sacks GC, Altarescu G, Guedalia J, Varshaver I, Gilboa T, Levy-Lahad E, Eldar-Geva T.

Child Neuropsychol. 2016;22(4):458-71. doi: 10.1080/09297049.2015.1014900. Epub 2015 Mar 16.

PMID:
25774437
37.

Proposed shift in screening for breast cancer--reply.

King MC, Lahad A, Levy-Lahad E.

JAMA. 2015 Feb 3;313(5):525-6. doi: 10.1001/jama.2014.17442. No abstract available.

PMID:
25647216
38.

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

Vinograd-Byk H, Sapir T, Cantarero L, Lazo PA, Zeligson S, Lev D, Lerman-Sagie T, Renbaum P, Reiner O, Levy-Lahad E.

J Neurosci. 2015 Jan 21;35(3):936-42. doi: 10.1523/JNEUROSCI.1998-14.2015.

39.

Precision medicine meets public health: population screening for BRCA1 and BRCA2.

Levy-Lahad E, Lahad A, King MC.

J Natl Cancer Inst. 2014 Dec 30;107(1):420. doi: 10.1093/jnci/dju420. Print 2015 Jan. No abstract available.

PMID:
25550384
40.

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells.

Avitzour M, Mor-Shaked H, Yanovsky-Dagan S, Aharoni S, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, Levy-Lahad E, Epsztejn-Litman S, Eiges R.

Stem Cell Reports. 2014 Nov 11;3(5):699-706. doi: 10.1016/j.stemcr.2014.09.001. Epub 2014 Oct 3.

41.

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.

King MC, Levy-Lahad E, Lahad A.

JAMA. 2014 Sep 17;312(11):1091-2. doi: 10.1001/jama.2014.12483. No abstract available.

PMID:
25198398
42.

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.

Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.

43.

Mutant ADA2 in vasculopathies.

Segel R, King MC, Levy-Lahad E.

N Engl J Med. 2014 Jul 31;371(5):481. doi: 10.1056/NEJMc1405506. No abstract available.

PMID:
25083540
44.

Neonatal outcome after preimplantation genetic diagnosis.

Eldar-Geva T, Srebnik N, Altarescu G, Varshaver I, Brooks B, Levy-Lahad E, Bromiker R, Schimmel MS.

Fertil Steril. 2014 Oct;102(4):1016-21. doi: 10.1016/j.fertnstert.2014.06.023. Epub 2014 Jul 23.

PMID:
25064409
45.

Testicular differentiation factor SF-1 is required for human spleen development.

Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E.

J Clin Invest. 2014 May;124(5):2071-5. Epub 2014 Apr 8.

46.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.

Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Review.

PMID:
24805811
47.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E.

N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19.

48.

BRCA mutation carriers do not have compromised ovarian reserve.

Michaelson-Cohen R, Mor P, Srebnik N, Beller U, Levy-Lahad E, Eldar-Geva T.

Int J Gynecol Cancer. 2014 Feb;24(2):233-7. doi: 10.1097/IGC.0000000000000058.

PMID:
24378620
49.

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.

Shen O, Lieberman S, Farber B, Terner D, Lahad A, Levy-Lahad E.

J Clin Med. 2014 Apr 23;3(2):432-9. doi: 10.3390/jcm3020432.

50.

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.

Curd H, Lewis S, Macciocca I, Sahhar M, Petrou V, Bankier A, Lieberman S, Levy-Lahad E, Delatycki MB.

J Community Genet. 2014 Apr;5(2):139-46. doi: 10.1007/s12687-013-0163-z. Epub 2013 Jul 27.

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