Medical & Molecular Genetics

Publications

2002

Titering lentiviral vectors: Comparison of DNA, RNA and marker expression methods

Sastry, L., Johnson, T., Hobson, M. J., Smucker, B. & Cornetta, K., Jan 1 2002, In : Gene Therapy. 9, 17, p. 1155-1162 8 p.

Research output: Contribution to journalArticle

225 Scopus citations
2001

Accumulation of soluble and nucleolar-associated p53 proteins following cellular stress

Klibanov, S. A., O'Hagan, H. M. & Ljungman, M., 2001, In : Journal of cell science. 114, 10, p. 1867-1873 7 p.

Research output: Contribution to journalArticle

70 Scopus citations

Activated in prostate cancer: A PDZ domain-containing protein highly expressed in human primary prostate tumors

Chaib, H., Rubin, M. A., Mucci, N. R., Li, L., Taylor, J. M. G., Day, M. L., Rhim, J. S. & Macoska, J. A., Mar 15 2001, In : Cancer Research. 61, 6, p. 2390-2394 5 p.

Research output: Contribution to journalArticle

43 Scopus citations

A genome-wide search for genes that relate to a low level of response to alcohol

Schuckit, M. A., Edenberg, H. J., Kalmijn, J., Flury, L., Smith, T. L., Reich, T., Bierut, L., Goate, A. & Foroud, T., 2001, In : Alcoholism: Clinical and Experimental Research. 25, 3, p. 323-329 7 p.

Research output: Contribution to journalArticle

153 Scopus citations

Alcohol dehydrogenase-2*2 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed-ancestry population of the Western Cape Province, South Africa

Viljoen, D. L., Carr, L. G., Foroud, T. M., Brooke, L., Ramsay, M. & Li, T. K., 2001, In : Alcoholism: Clinical and Experimental Research. 25, 12, p. 1719-1722 4 p.

Research output: Contribution to journalArticle

73 Scopus citations

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease

Panegyres, P. K., Toufexis, K., Kakulas, B. A., Cernevakova, L., Brown, P., Ghetti, B., Piccardo, P. & Dlouhy, S. R., 2001, In : Archives of Neurology. 58, 11, p. 1899-1902 4 p.

Research output: Contribution to journalArticle

Open Access
56 Scopus citations

A quantitative estimate of genetic vulnerability for a multifactorial condition

Nurnberger, J. I., Foroud, T., Hu, K., Castellucio, P., Edenberg, H. J. & Meyer, E. T., Oct 8 2001, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 105, 7, 1 p.

Research output: Contribution to journalArticle

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

White, K. E., Carn, G., Lorenz-Depiereux, B., Benet-Pages, A., Strom, T. M. & Econs, M. J., Dec 2001, In : Kidney international. 60, 6, p. 2079-2086 8 p.

Research output: Contribution to journalArticle

388 Scopus citations
29 Scopus citations

Cryptic translocation identification in human and mouse using several telomeric multiplex FISH (TM-FISH) strategies

Henegariu, O., Artan, S., Greally, J. M., Chen, X. N., Korenberg, J. R., Vance, G. H., Stubbs, L., Bray-Ward, P. & Ward, D. C., Jan 1 2001, In : Laboratory Investigation. 81, 4, p. 483-491 9 p.

Research output: Contribution to journalArticle

Open Access
30 Scopus citations

Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p

Satinover, D. L., Vance, G. H., Van Dyke, D. L. & Schwartz, S., Jan 1 2001, In : Chromosoma. 110, 4, p. 275-283 9 p.

Research output: Contribution to journalArticle

26 Scopus citations

Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria

Phillips, M. D., McGraw, P., Lowe, M. J., Mathews, V. P. & Hainline, B. E., Sep 27 2001, In : American Journal of Neuroradiology. 22, 8, p. 1583-1586 4 p.

Research output: Contribution to journalArticle

70 Scopus citations
57 Scopus citations

DNA-PKcs is critical for telomere capping

Gilley, D., Tanaka, H., Hande, M. P., Kurimasa, A., Li, G. C., Oshimura, M. & Chen, D. J., Dec 18 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 26, p. 15084-15088 5 p.

Research output: Contribution to journalArticle

147 Scopus citations

Genome screen for quantitative trait loci underlying normal variation in femoral structure

Koller, D. L., Liu, G., Econs, M. J., Hui, S. L., Morin, P. A., Joslyn, G., Rodriguez, L. A., Michael Conneally, P., Christian, J. C., Conrad Johnston, C., Foroud, T. & Peacock, M., 2001, In : Journal of Bone and Mineral Research. 16, 6, p. 985-991 7 p.

Research output: Contribution to journalArticle

101 Scopus citations
22 Scopus citations

Improvements in cytogenetic slide preparation: Controlled chromosome spreading, chemical aging and gradual denaturing

Henegariu, O., Heerema, N. A., Wright, L. L., Bray-Ward, P., Ward, D. C. & Vance, G. H., Feb 1 2001, In : Cytometry. 43, 2, p. 101-109 9 p.

Research output: Contribution to journalArticle

151 Scopus citations

Induction of serl5 and 1ys382 modifications of p53 by blockage of transcription elongation

Ljungman, M., O'hagan, H. M. & Paulsen, M. T., Sep 20 2001, In : Oncogene. 20, 42, p. 5964-5971 8 p.

Research output: Contribution to journalArticle

58 Scopus citations

Loss of heterozygosity on chromosome 3 in sporadic colorectal carcinoma

Peng, Z., Ling, Y. & Bai, S., Mar 25 2001, In : Zhonghua yi xue za zhi. 81, 6, p. 336-339 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

Levy, G. G., Nichols, W. C., Lian, E. C., Foroud, T., McClintick, J. N., McGee, B. M., Yang, A. Y., Siemieniak, D. R., Stark, K. R., Gruppo, R., Sarode, R., Shurin, S. B., Chandrasekaran, V., Stabler, S. P., Sabio, H., Bouhassira, E. E., Upshaw, J. D., Ginsburg, D. & Tsai, H. M., Oct 4 2001, In : Nature. 413, 6855, p. 488-494 7 p.

Research output: Contribution to journalReview article

1272 Scopus citations

Packaging cell line DNA contamination of vector supernatants: Implication for laboratory and clinical research

Chen, J., Reeves, L., Sanburn, N., Croop, J., Williams, D. A. & Cornetta, K., Mar 30 2001, In : Virology. 282, 1, p. 186-197 12 p.

Research output: Contribution to journalArticle

34 Scopus citations

Parametric linkage analysis and disequilibrium methods to identify loci for complex disease

McClintick, J., Koller, D. L., Pankratz, N., Kirkwood, S. C., Naughton, B. & Foroud, T., 2001, In : Genetic epidemiology. 21, SUPPL. 1, p. S528-S533

Research output: Contribution to journalArticle

1 Scopus citations

Partial urorectal septum malformation sequence: A report of 25 cases

Wheeler, P. G. & Weaver, D. D., Oct 1 2001, In : American journal of medical genetics. 103, 2, p. 99-105 7 p.

Research output: Contribution to journalArticle

56 Scopus citations

Perceived Genetic Risks for Bipolar Disorder in a Patient Population: An Exploratory Study

Quaid, K. A., Aschen, S. R., Smiley, C. L. & Nurnberger, J. I., 2001, In : Journal of Genetic Counseling. 10, 1, p. 41-51 11 p.

Research output: Contribution to journalArticle

26 Scopus citations

Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations

Piccardo, P., Liepnieks, J. J., William, A., Dlouhy, S. R., Farlow, M. R., Young, K., Nochlin, D., Bird, T. D., Nixon, R. R., Ball, M. J., DeCarli, C., Bugiani, O., Tagliavini, F., Benson, M. D. & Ghetti, B., Jan 1 2001, In : American Journal of Pathology. 158, 6, p. 2201-2207 7 p.

Research output: Contribution to journalArticle

67 Scopus citations

Progression of symptoms in the early and middle stages of Huntington disease

Kirkwood, S. C., Su, J. L., Conneally, P. M. & Foroud, T., 2001, In : Archives of Neurology. 58, 2, p. 273-278 6 p.

Research output: Contribution to journalArticle

Open Access
160 Scopus citations

Proliferation index is related to patient age in glioblastoma

McKeever, P. E., Junck, L., Strawderman, M. S., Blaivas, M., Tkaczyk, A., Cates, M. A., Yan, M. & Li, L., May 8 2001, In : Neurology. 56, 9, p. 1216-1218 3 p.

Research output: Contribution to journalArticle

23 Scopus citations

Psychosocial adjustment of patients and caregivers prior to allogeneic bone marrow transplantation

Siston, A. K., List, M. A., Daugherty, C. K., Banik, D. M., Menke, C., Cornetta, K. & Larson, R. A., Jul 12 2001, In : Bone marrow transplantation. 27, 11, p. 1181-1188 8 p.

Research output: Contribution to journalArticle

46 Scopus citations

Putative telomere-independent mechanisms of replicative aging reflect inadequate growth conditions

Ramirez, R. D., Morales, C. P., Herbert, B. S., Rohde, J. M., Passons, C., Shay, J. W. & Wright, W. E., 2001, In : Genes and Development. 15, 4, p. 398-403 6 p.

Research output: Contribution to journalArticle

381 Scopus citations

Safety testing for replication-competent retrovirus associated with gibbon ape leukemia virus-pseudotyped retroviral vectors

Chen, J., Reeves, L. & Cornetta, K., Jan 1 2001, In : Human gene therapy. 12, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

37 Scopus citations

Site-directed mutation of the highly conserved region near the Q-loop of the cytochrome bd quinol oxidase from Escherichia coli specifically perturbs heme b595

Zhang, J., Hellwig, P., Osborne, J. P., Huang, H. W., Moënne-Loccoz, P., Konstantinov, A. A. & Gennis, R. B., Jul 24 2001, In : Biochemistry. 40, 29, p. 8548-8556 9 p.

Research output: Contribution to journalArticle

28 Scopus citations

Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH)

Henegariu, O., Bray-Ward, P., Artan, S., Vance, G. H., Qumsyieh, M. & Ward, D. C., Jan 1 2001, In : Laboratory Investigation. 81, 4, p. 475-481 7 p.

Research output: Contribution to journalArticle

Open Access
32 Scopus citations

Stoppage: An issue for segregation analysis

Slager, S. L., Foroud, T., Haghighi, F., Spence, M. A. & Hodge, S. E., Apr 10 2001, In : Genetic epidemiology. 20, 3, p. 328-339 12 p.

Research output: Contribution to journalArticle

11 Scopus citations

Telomerase and breast cancer

Herbert, B. S., Wright, W. E. & Shay, J. W., 2001, In : Breast Cancer Research. 3, 3, p. 146-149 4 p.

Research output: Contribution to journalComment/debate

58 Scopus citations

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

White, K. E., Jonsson, K. B., Carn, G., Hampson, G., Spector, T. D., Mannstadt, M., Lorenz-Depiereux, B., Miyauchi, A., In Myung Yang, M. Y., Ljunggren, O., Meitinger, T., Strom, T. M., Jüppner, H. & Econs, M. J., 2001, In : Journal of Clinical Endocrinology and Metabolism. 86, 2, p. 497-500 4 p.

Research output: Contribution to journalArticle

Open Access
277 Scopus citations

The characterization of mice with a targeted combined deficiency of protein C and factor XI

Chan, J. C. Y., Ganopolsky, J. G., Cornelissen, I., Suckow, M. A., Sandoval-Cooper, M. J., Brown, E. C., Noria, F., Gailani, D., Rosen, E. D., Ploplis, V. A. & Castellino, F. J., Feb 2001, In : American Journal of Pathology. 158, 2, p. 469-479 11 p.

Research output: Contribution to journalArticle

31 Scopus citations

The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2

Liu, W., Wang, H., Zhao, S., Zhao, W., Bai, S., Zhao, Y., Xu, S., Wu, C., Huang, W., Chen, Z., Feng, G. & He, L., 2001, In : Journal of dental research. 80, 8, p. 1716-1720 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

Unified huntington’s disease rating scale: Reliability and consistency

Kieburtz, K., Penney, J. B., Corno, P., Ranen, N., Shoulson, I., Feigin, A., Abwender, D., Timothy Greenarnyre, J., Higgins, D., Marshall, F. J., Goldstein, J., Steinberg, K., Shih, C., Richard, I., Hickey, C., Zimmerman, C., Orme, C., Claude, K., Oakes, D., Sax, D. S. & 31 others, Kim, A., Hersch, S., Jones, R., Auchus, A., Olsen, D., Bissey-Black, C., Rubin, A., Schwartz, R., Dubinsky, R., Mallonee, W., Gray, C., Godfrey, N., Suter, G., Shannon, K. M., Stebbins, G. T., Jaglin, J. A., Marder, K., Taylor, S., Louis, E., Moskowitz, C., Thorne, D., Zubin, N., Wexler, N., Swenson, M. R., Paulsen, J., Swerdlow, N., Albin, R., Wernette, C., Walker, F., Martin, W. & Huntington Study Group, Feb 27 2001, In : Neurology. 11, 2, p. 136-142 7 p.

Research output: Contribution to journalArticle

1353 Scopus citations

Use of variable marker density, principal components, and neural networks in the dissection of disease etiology.

Pankratz, N., Kirkwood, S. C., Flury, L., Koller, D. L. & Foroud, T., 2001, In : Genetic epidemiology. 21 Suppl 1, p. S732-737

Research output: Contribution to journalArticle

1 Scopus citations

Validation of scales to measure benefits of and barriers to colorectal cancer screening

Rawl, S., Champion, V., Menon, U., Loehrer, P. J., Vance, G. H. & Skinner, C. S., Jan 1 2001, In : Journal of Psychosocial Oncology. 19, 3-4, p. 47-63 17 p.

Research output: Contribution to journalReview article

79 Scopus citations

Variability in skeletal mass, structure, and biomechanical properties among inbred strains of rats

Turner, C. H., Roeder, R. K., Wieczorek, A., Foroud, T., Liu, G. & Peacock, M., 2001, In : Journal of Bone and Mineral Research. 16, 8, p. 1532-1539 8 p.

Research output: Contribution to journalArticle

64 Scopus citations

Weaver syndrome with neuroblastoma and cardiovascular anomalies

Huffman, C., McCandless, D., Jasty, R., Matloub, J., Robinson, H. B., Weaver, D. D. & Cohen, M. M., Mar 15 2001, In : American journal of medical genetics. 99, 3, p. 252-255 4 p.

Research output: Contribution to journalArticle

14 Scopus citations
2000

Additional copies of the proteolipid protein gene causing Pelizaeus- Merzbacher disease arise by separate integration in to the X chromosome

Hodes, M. E., Woodward, K., Spinner, N. B., Emanuel, B. S., Enrico-Simon, A., Kamholz, J., Stambolian, D., Zackai, E. H., Pratt, V. M., Thomas, I. T., Crandall, K., Dlouhy, S. R. & Malcolm, S., 2000, In : American Journal of Human Genetics. 67, 1, p. 14-22 9 p.

Research output: Contribution to journalArticle

39 Scopus citations

A genome screen of maximum number of drinks as an alcoholism phenotype

Saccone, N. L., Kwon, J. M., Corbett, J., Goate, A., Rochberg, N., Edenberg, H. J., Foroud, T., Li, T. K., Begleiter, H., Reich, T. & Rice, J. P., Oct 9 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 5, p. 632-637 6 p.

Research output: Contribution to journalArticle

177 Scopus citations

Alcoholism susceptibility loci: Confirmation studies in a replicate sample and further mapping

Foroud, T., Edenberg, H. J., Goate, A., Rice, J., Flury, L., Koller, D. L., Bierut, L. J., Conneally, P. M., Nurnberger, J. I., Bucholz, K. K., Li, T. K., Hesselbrock, V., Crowe, R., Schuckit, M., Porjesz, B., Begleiter, H. & Reich, T., Jul 2000, In : Alcoholism: Clinical and Experimental Research. 24, 7, p. 933-945 13 p.

Research output: Contribution to journalArticle

211 Scopus citations

Allele frequency heterogeneity in the collaborative study on the genetics of alcoholism (COGA)

Saccone, N. L., Rice, J. P., Goate, A., Conneally, P. M., Edenberg, H., Foroud, T., Nurnberger, J. & Reich, T., Aug 7 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 4, p. 563 1 p.

Research output: Contribution to journalArticle

Antileukemic activity of Flt3 ligand in murine leukemia

Wang, A., Braun, S. E., Sonpavde, G. & Cornetta, K., Apr 1 2000, In : Cancer Research. 60, 7, p. 1895-1900 6 p.

Research output: Contribution to journalArticle

26 Scopus citations

Application of FLUPD-DD-PCR to the study of mRNA expression of glioma cells cultured under the condition of serum starvation

Bai, S., Liu, W., Shi, X. & He, L., Jan 1 2000, In : Chinese Science Bulletin. 45, 4, p. 369-372 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

White, K. E., Evans, W. E., O'Riordan, J. L. H., Speer, M. C., Econs, M. J., Lorenz-Depiereux, B., Grabowski, M., Meitinger, T. & Strom, T. M., Nov 20 2000, In : Nature genetics. 26, 3, p. 345-348 4 p.

Research output: Contribution to journalArticle

1099 Scopus citations