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logo8e Prof. Kerem's publications

Peer reviewed articles:
1983:
1. Kerem B, Goitein R, Richler C, Marcus M and Cedar H. (1983) In situ Nick Translation Distinguishes between Active and Inactive X Chromosomes. Nature 304:88-90.

1984:
2. Kerem B, Goitein R, Diamond G, Cedar H and Marcus M. (1984) Mapping of DNase I Sensitive Region on Mitotic Chromosomes. Cell 38:493-499.

1985:
3. Sperling K, Kerem B, Goitein R, Kottush-Geiseler V, Marcus M and Cedar H. (1985) DNase I Sensitivity in Facultative and Constitutive heterochromatin. Chromosoma 93:38-42.

1987:
4. Richler C, Uliel E, Kerem B and Wahrman J. (1987) Regions of Active Chromatin Conformation in "Inactive" Male Meiotic Sex Chromosomes of the Mouse. Chromosoma 95:167-170.

1988:
5. Kerem B, Kottusch-Geiseler V, Kalscheuer V, Goitein R, Sperling K and Marcus M. (1988) DNase I Sensitivity of Microtus Agrestis Active, Inactive and Reactivated X Chromosomes in Mouse-Microtus Cell Hybrids. Chromosoma (Berl) 96:227-230.
6. Kerem B, Goitein R and Schaap T. (1988) Cytological Evidence of Defective Template in the Fragile X Chromosome. Chromosoma (Berl) 97:6-10.
7. Rommens JM, Zengerling S, Burns J, Melmer G, Kerem B, Plavsic N, Zsiga M, Kennedy D, Markiewicz D, Rozmahel R, Riordan JR, Buchwald M and Tsui L-C. (1988) Identification and Regional Localization of DNA Markers on Chromosome 7 for the Cloning of the Cystic Fibrosis Gene. Am J Hum Genet 43:645-663.

1989:
8. Kerem E, Corey M, Kerem B, Durie P, Tsui L-C and Levison H. (1989) Clinical and Genetic Comparisons of Patients with Cystic Fibrosis, With or Without Meconium Ileus. J Paediatrics 114:767-772.
9. Kerem B, Buchanan JA, Durie P, Corey M, Levison H, Buchwald M and Tsui L-C. 1989) DNA Marker Haplotype Association with Pancreatic Sufficiency in Cystic Fibrosis. Am J Hum Genet 44:827-834.
10. Kerem B, Rommens J, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M and Tsui L-C. (1989) Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science 245:1073-1080.
11. Rommens J, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui L-C and Collins FS. (1989) Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping. Science 245:1059-1065.
12. Riordan JR, Rommens J, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J-L, Drumm ML, Iannuzzi MC, Collins FS and Tsui L-C. (1989) Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA. Science 245:1066-1073.
13. Rommens JM, Zengerling-Lentes S, Kerem B, Melmer G, Buchwald M and Tsui L-C. (1989) Physical localization of two DNA markers closely linked to the Cystic Fibrosis locus by pulsed field get electrophoresis. Am J Hum Genet 45:932-941.
14. Rosenbloom CL, Kerem B, Rommens JM, Tsui L-C, Wainwright B, Williamson R, O'Brien WE and Beaudet AL. (1989) DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucleic Acids Res 17:17.

1990:
15. Lemma WK, Feldman GL, Kerem B, Fernback SD, Zevkovich EP, O'Brien WE, Collins FS, Tsui L-C and Beaudet AL. (1990) Direct mutation analysis for heterozygote detection and prenatal diagnosis of cystic fibrosis. N Engl J Med 322:291-296.
16. Rommens JM, Kerem B, Greer W, Chang P, Tsui L-C and Ray P. (1990) Rapid nonradioactive detection of the major CF mutation. Am J Hum Genet 46:395-396.
17. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Rommens JM, Kennedy D, Riordan JR, Collins F and Tsui L-C. (1990) Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP) - binding fold of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447-8451.
18. Kerem E, Corey M, Kerem B, Rommens JM, Markiewicz D, Levison H, Tsui L-C and Durie P. (1990) Association between the DF508 mutation and phenotypes in cystic fibrosis. N Engl J Med 323:1517-1522.
19. Multiple contributors. (1990) Worldwide survey of the DF508 mutation - Report from the Cystic Fibrosis Analysis Consortium. Am J Hum Genet 47:354-359.
20. Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L-C, Fujiwara TM and Morgan K (1990). Cystic fibrosis mutations in North American populations of French Ancestry: Analysis of Quebec French-Canadian and Louisiana Arcadian Families. Am J Hum Genet 47:606-610.

1991:
21. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens JM and Tsui L-C. (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214-228.
22. Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM and Tsui L-C. (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:229-235.
23. Tsui L-C, Rommens J, Kerem B, Rozmahel R, Zielenski J, Kennedy D, Markiewicz D, Plavsic N, Chou JL, Bozon D and Dobbs M. (1991) Molecular genetics of cystic fibrosis. Adv Exp Med Biol 290:9-18.
24. Ng ISL, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui L-C and Beaudet AL. (1991) Methods for analysis of multiple cystic fibrosis mutations. Hum Genet 87(5):613-617.
25. Kimchi-Sarfati C, Goitein R, Kerem B, Werner M, Meidan B and Schaap T (1991) Endoreduplication and polyploidy in fragile X cells induced by methotrexate and fluorodeoxyuridine: implications for diagnosis. Am J Med Genet 38(2-3) 429-433.

1992:
26. Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maab G, Krawczak M, Guillermit H, Ferec C, Horn G, Klinger K, Kerem B, Zielenski J, Tsui L-C and Tummler B. (1992) Intra and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 88:417-425.
27. Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E and Kerem B. (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50:222-228.
28. Goshen R, Kerem E, Shoshani T, Feigin E, Zamir O, Yahav Y and Kerem B. (1992) Cystic fibrosis presenting as undescended testis and absence of vas deferens. Pediatrics 90:982-983.
29. Shoshani T, Berkun Y, Yahav Y, Augarten A, Bashan N, Rivlin Y, Gazit E, Sereth H, Kerem E and Kerem B. (1992) A new mutation in the cystic fibrosis gene, comprised of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews. Genomics 15:236-237.
30. Osborne L, Gantis G, Schwarz M, Klinger K, Dork D, McIntosh I, Schwartz M, NunesJ, Anvret M, Wallace A, Williams C, Mathew C, Rozen R, Graham C, Gaparini P, Bal J, Cassiman JJ, Balassopoulou A, Davidow L, Raskin S, Kalaydijieva L, Kerem B, Richards S, Simon-Bouy B, Super M, Wulbrand U, Keston M, Estivill X, Vavrova V, Friedman KJ, Barton D, Dallapiccola B, Stuhrmann M, Beards F, Hill AJM, Pignatti PF, Cuppens H, Angelicheva D, Tummler B, Brock DJH, Casals T, Macek M, Schmidtke J, Magee AC, Bonizzato A, DeBoeck C, Kuffardjieva A, Hodson M and Knight RA.(1992) Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet 89:653-658.

1993:
31. Sereth H, Shoshani T, Bashan N and Kerem B. (1993) Cystic Fibrosis extended haplotype and implication to the selective advantage hypothesis. Hum. Genet 92:289-295.
32. Benhorin J, Kalman YM, Medina A, Tzivoni D, Rave-Harel N, Dyer TD, Blangero J, MacCluer JW and Kerem B. (1993) Evidence for genetic heterogeneity in the long QT syndrome. Science 260:1960-1962.
33. Zamostiano R, Noiman S, Yahav J, Szeinberg A, Kerem B and Gazit E. (1993) Screening for carriers of cystic fibrosis mutations in Ashkenazi volunteers. Harefuah 124:202-205.
34. Augarten A, Kerem B, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Katznelson D, Kerem E and Gazit E. (1993) Mild presentation of cystic fibrosis with normal or borderline sweat test in patients carrying the 3849+10Kb C->T mutation. Lancet 342:25-26.

1994:
35. Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A and Kerem B. (1994) Similar levels of mRNA from the W1282X and the DF508 cystic fibrosis alleles, in nasal epithelial cells. J Clin Invest 93:1502-1507.
36. Shoshani T, Augarten A, Yahav J, Gazit E and Kerem B. (1994) Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. Hum Mol Genet 3:657-658.
37. Ginsberg G, Blau H, Kerem E, Springer C, Kerem B, Ackstein E, Greenberg A, Kolumbos A, Abeliovich D, Gazit E and Yahav J. (1994) Cost-benefit analysis of a national screening program for cystic fibrosis in an Israeli population. Health Economics 3:5-23.
38. Kalman YM, Kerem E, Darvasi A, Demarchi J and Kerem B. (1994) Difference in frequencies of the cystic fibrosis alleles, DF508 and W1282X, between carriers and patients. Eur J Hum Genet 2:77-82.
39. Augarten A, Yahav Y, Kerem B, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I. (1994) Congenital bilateral absence of the vas deferens in the absence of cystic fibrosis. Lancet 344:1473-1474.
40. Ehrlich G, Ginzberg D, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H and Soreq H. (1994) Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from Transcaucasian Georgia and from Europe. Genomics 22: 288-295.
41. Avner R, Laufer N, Safran A, Kerem B, Friedmann A and Mitrani-Rosenbaum S. (1994) Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and DF508 mutations. Hum Reproduct 9:1676-1680.

1995:
42. Kerem E, Kalman YM, Yahav Y, Shoshani T, Abelyovich D, A, Rivlin J, Blau H, Tal A, Ben-Tur L, Springer C, Augarten A, Godfrey S, Lerer Israela, BD, Friedman M, Kerem B. (1995) Incidence of cystic fibrosis and distribution of mutations in the CFTR gene among the Jewish population of Israel. Hum Genet 96:193-197.
43. Darvasi A, Kerem B. (1995) Deletion and insertion mutations in short tandem repeats in the coding regions of human genes. Eur J Hum Genet 3:14-20.
44. Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Rahat A, Chiba O, Kalman YM, Brautbar C, Augarten A, Kerem E, Kerem B. (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 56:1359-1366.
45. Augarten A, Hachman S, Kerem E, Kerem B, Szeingerg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, Gazit E, Katzenelson D, Yahav Y. (1995) The significance of sweat Cl/Na ration in patients with borderline sweat test. Pediatric Pulmonol 20:369-371.

1996:
46. Avidor B, Zakut H, Kerem B. (1996) Nonradioactive simple and rapid method to detect major cystic fibrosis mutations in Ashkenazi Jews. Clin Chem 42:103-105.

1997:
47. Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Hurwitz A, Darvasi A, Kerem B. (1997) The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 60:87-94.
48. Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba O, Kremer MD, Simon A, Branski D, Kerem B (1997) A CFTR splice mutation with partial penetreance associated with variable cystic fibrosis presentation. Am J Respir Crit Care Med 155:1914-1920.
49. Estivill X, Bancells C, Ramos C, and the Biomed Mutation Analysis Consortium (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutation 10:135-154.
50. Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Chiba-Falek O, Branski D, Corey M, Kerem B (1997) A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatrics 100: 1-6.
51. Falek-Chiba O, Nissim Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B (1997) Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet 6: 181-184.

1998:
52. Augarten A, Katznelson D, Dubenbaum R, Sela BA, Luski A, Szeinberg A, Kerem B, Paret G, Sack J, Yahav Y (1998) Serum lipase levels pre and post Lundh meal:evaluation of exocrine pancreatic ststus in cystic fibrosis. Int J Clin Lab Res 28:226-229.
53. Benhorin J, Goldmit M, MacCluer JW, Blangero J, Goffen R, Leibovitch A, Rahat A, Wang Q, Medina A, Towbin JA, Kerem B (1998) Identification of a new SCN5A mutation associated with the long QT syndrome. Hum Mutation 12(1):72.
54. Mishmar D, Rahat A, Scherer SW, Nyakatura G, Hinzmann B, Kohwi Y, Mandel-Gutfroind Y, Lee JR, Drescher B, Sas DE, Margalit H, Platzer M, Weiss A, Tsui L-C, Rosenthal A, Kerem B. (1998) Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of an SV40 integration site. Proc Natl Acad Sci USA 95:8141-8146.
55. Guttenbach M, Nasssar N, Feichtinger W, Steinlein C, Nanda I, Wanner G, Kerem B, Schmid M (1998) An interstitial nucleolus organizer region in the long arm of chromosome 7: cytogenetic characterization and familial segregation. Cytogenet Cell Genet 80:104-112.
56. An RH, Wang XL, Kerem B, Benhorin J, Goldmit M, Kass RS (1998) A novel LQT-3 mutation affects Na channel activity through interactions between a and b1 subunits. Circulation Research 83:141-146.
57. Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B (1998) The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+1-kb C-T mutation. Genomics 53:276-283.
58. Gross-Tsur V, Manor O, Kerem B, Friedlander Y, Shalev RS (1998) Development al dyscalculia is a familial learning disability. Ann Neurology 44: 542-546.

1999:
59. Mishmar D, Mandel-Gutfreund Y, Margalit H, Rahat A, Kerem B (1999) Common fragile Sites: G band characteristics with an R-band. Am J Hum Genet 64:908-910.
60. Wilschanski M, Rivilin J, Cohen S, Augarten A, Blau H, Aviram M, Bentur L, Springer C, Vila Y, Branski D, Kerem B, Kerem E (1999) Clinical and genetic risk factors for cystic fibrosis-related liver diesases. Pediatrics 103:52-57.
61. Chiba-Falek O, Parad RB, Kerem E , Kerem B (1999) Variable levels of normal RNA in different organs carrying the CFTR splicing mutation 3849+10kb C->T. Am J Respir and Critical Care Medicine 159:1998-2002.

2000:
62. Wilschanski M, Famini C, Blau H, Rivlin J, Augarten A, Avital A, Kerem B and Kerem E (2000) A Pilot study of the effect of Gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am. J. Respir. Crit. Care Med. 161: 860-865.
63. Benhorin J, Taub R, Goldmit M, Kerem B, Kass RS, Windman I, Medina A. (2000) Effects of Flecainide in patients With a new SCN5A mutation: mutation-specific therapy for long QT syndrome. Circulation 101:1698-1707.
64. Hellman A, Rahat A, Scherer SW, Darvasi A, Tsui L.-C, Kerem B (2000) Replication delay along FRA7H, a common fragle site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol 20: 4420-4427.
65. Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B (2000) Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum Mol Genet 9:1771-1778.
66. Abriel H, Wehrens XH, Benhorin J, Kerem B, Kass RS (2000) Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome Circulation 102:921-925.

2001:
67. Wilschanski M, Famini H, Strauss Liviatan N, Rivlin J, Blau H, Bibi H, Bentur L, Yahav Y, Springer H, Kramer MR, Klar K, Ilani A, Kerem B, Kerem E. (2001) Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 17:1208-1215.
68. Shalev RS, Manor O, Kerem B, Ayali M, Badichi N, Friedlander Y, Gross-Tsur V (2001) Developmental dyscalculia is a familial learning disability. Journal of Learning Disabilities 34 (1): 59-65.
69. Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L and Kerem B (2001) A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 1: 89-97.

2002:
70. Benhorin J, Moss AJ, Bak M, Zareba W, Kaufman E, Kerem B, Towbin JA, Priori S, Kass RS, Attali B, Brown A and Ficker E. (2002) Variable Expression of Long QT syndrome among gene carriers from families with five different HERG mutations. Ann Noninvasive Electrocardiol 7:40-46.
71. Zoossmann-Diskin AJ, Liron JA, Kerem B, Shohat M, Peleg L (2002) Protein electrophoretic markers in Israel: compilation of data and genetic affinities. Ann Hum Bio 29:142-175.

2003:
72. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick J-A, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern L, Zhang O, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HHQ, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GAP, Korf BR, Quade B, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim H-G, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJT, Grzeschik K-H, Teebi A, Minassian BA, Kere J, Armengol L, Estivill X, Wilson MD, Koop BF, Tosi S, Pujana MA, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, D?hner H, D?hner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui L.-C. (2003) Human chromosome 7: DNA sequence and biology. Science 300:767-72.
73. Lerer B, Segman RH , Hamdan A , Kanyas K , Karni O, Kohn Y , Korner M , Lanktree M , Kaadan M, Turetsky N ,Yakir A , Kerem B, Macciardi F (2003) Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24. Molecular Psychiatry (in press)
74. Wilschanski M., Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. (2003).Correction of CFTR function by gentamicin in cystic fibrosis patients carrying stop mutations: a double blind placebo controlled crossover trial. New Engl J Med (in press)

Invited reviews:
75. Kerem E, and Kerem B. (1995) The relationship between genotype and phenotype in cystic fibrosis. Curr Opin in Pulm Med 1:450-456.
76. Kerem B, and Kerem E. (1996) The molecular basis for genotype-phenotype correlation in cystic fibrosis. Eur J Hum Genet 4:65-73.
77. Kerem B, and Kerem E. (1996) The molecular basis for disease variability in cystic fibrosis. Cellular Pharmacology 34:163-169.
78. Kerem E, and Kerem B. (1996) Genotype-Phenotype correlation in cystic fibrosis. Pediatric Pulmonol 22:387-395.
79. Kerem B, Chiba-Falek O, Kerem E. (1997) Cystic fibrosis in Jews: frequency and distribution of mutations. Genetic testing 1:35-39.
80. Nissim-Rafinia M and Kerem B, (2001) Splicing regulation as a genetic modifier. Trends in Genetics 18:123-127.

Chapters in books:
81. Kerem B. (1993) "Cystic fibrosis" in the new edition of The Hebrew Encclopedia.
82. Ehrlich G, Ginzberg D, Schwarz M, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H, Soreq H. (1995) Population diversity of point mutations in the human ACHE and BCHE genes predicts variable responses to anti-cholinesterase drugs. In: Alzheimer's and Parkinson's Diseases: Recent advances. Hanin I, Fisher A and Yoshida M Eds. Plenum Press, N.Y. pp 347-352.

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