Medical & Molecular Genetics

Publications

2000

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

White, K. E., Lorenz, B., Evans, W. E., Meitinger, T., Strom, T. M. & Econs, M. J., Apr 4 2000, In : Gene. 246, 1-2, p. 347-356 10 p.

Research output: Contribution to journalArticle

68 Scopus citations

Packaging cell line characteristics and optimizing retroviral vector titer: The national gene vector laboratory experience

Reeves, L., Smucker, P. & Cornetta, K., Oct 10 2000, In : Human gene therapy. 11, 15, p. 2093-2103 11 p.

Research output: Contribution to journalArticle

32 Scopus citations

Presymptomatic genetic testing with an APP mutation in Early-onset Alzheimer disease: A descriptive study of sibship dynamics

Quaid, K. A., Murrell, J. R., Hake, A. M., Farlow, M. R. & Ghetti, B., Jan 1 2000, In : Journal of Genetic Counseling. 9, 4, p. 327-341 15 p.

Research output: Contribution to journalReview article

7 Scopus citations

Production of transgenic mice with yeast artificial chromosomes.

Jakobovits, A., Lamb, B. T. & Peterson, K. R., 2000, In : Methods in molecular biology (Clifton, N.J.). 136, p. 435-453 19 p.

Research output: Contribution to journalReview article

14 Scopus citations

Propionic acidemia in a four-month-old male: A case study and anesthetic implications

Harker, H. E., Emhardt, J. D. & Hainline, B. E., Jan 1 2000, In : Anesthesia and Analgesia. 91, 2, p. 309-311 3 p.

Research output: Contribution to journalArticle

24 Scopus citations

Sib pair linkage and association studies between bone mineral density and the interleukin-6 gene locus

Takacs, I., Koller, D. L., Peacock, M., Christian, J. C., Evans, W. E., Hui, S. L., Conneally, P. M., Johnston, C. C., Foroud, T. & Econs, M. J., Jul 1 2000, In : Bone. 27, 1, p. 169-173 5 p.

Research output: Contribution to journalArticle

31 Scopus citations

Subtle changes among presymptomatic carriers of the Huntington's disease gene

Kirkwood, S. C., Siemers, E., Hodes, M. E., Conneally, P. M., Christian, J. C. & Foroud, T., Dec 12 2000, In : Journal of Neurology Neurosurgery and Psychiatry. 69, 6, p. 773-779 7 p.

Research output: Contribution to journalArticle

107 Scopus citations

Suggestive evidence of a locus on chromosome 10p using the NIMH genetics initiative bipolar affective disorder pedigrees

Foroud, T., Castelluccio, P. F., Koller, D. L., Edenberg, H. J., Miller, M., Bowman, E., Rau, N. L., Smiley, C., Rice, J. P., Goate, A., Armstrong, C., Bierut, L. J., Reich, T., Detera-Wadleigh, S. D., Goldin, L. R., Badner, J. A., Guroff, J. J., Gershon, E. S., McMahon, F. J., Simpson, S. & 6 others, MacKinnon, D., McInnis, M., Stine, O. C., DePaulo, J. R., Blehar, M. C. & Nurnberger, J. I., Feb 7 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 1, p. 18-23 6 p.

Research output: Contribution to journalArticle

62 Scopus citations

Tandem intermediate dose melphalan supported by autologous progenitor cells in the management of primary amyloidosis

Abonour, R., Benson, M. D., Robertson, M. J., Robert, H. A. & Kenneth, C., Dec 1 2000, In : Blood. 96, 11 PART II, p. 367b

Research output: Contribution to journalArticle

1 Scopus citations

The CC chemokine CKβ-11/MIP-3β/ELC/exodus 3 mediates tumor rejection of murine breast cancer cells through NK cells

Braun, S. E., Chen, K., Foster, R. G., Kim, C. H., Hromas, R., Kaplan, M. H., Broxmeyer, H. E. & Cornetta, K., Apr 15 2000, In : Journal of Immunology. 164, 8, p. 4025-4031 7 p.

Research output: Contribution to journalArticle

Open Access
112 Scopus citations
30 Scopus citations

Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector.

O'Neal, W. K., Zhou, H., Morral, N., Langston, C., Parks, R. J., Graham, F. L., Kochanek, S. & Beaudet, A. L., Mar 2000, In : Molecular medicine (Cambridge, Mass.). 6, 3, p. 179-195 17 p.

Research output: Contribution to journalArticle

Open Access
76 Scopus citations

Transplantation of CD34+ peripheral blood cells selected using a fully automated immunomagnetic system in patients with high-risk breast cancer: Results of a prospective randomized multicenter clinical trial

Yanovich, S., Mitsky, P., Cornetta, K., Maziarz, R. T., Rosenfeld, C., Krause, D. S., Lotz, J. P., Bitran, J. D., Williams, S., Preti, R., Somlo, G., Burtness, B. & Mills, B., Jan 1 2000, In : Bone marrow transplantation. 25, 11, p. 1165-1174 10 p.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

Update on chromosomal locations for psychiatric disorders: Report of the interim meeting of chromosome workshop chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey; California, October 14-18, 1999

DeLisi, L. E., Craddock, N. J., Detera-Wadleigh, S., Foroud, T., Gejman, P., Kennedy, J. L., Lendon, C., Macciardi, F., McKeon, P., Mynett-Johnson, L., Nurnberger, J. I., Paterson, A., Schwab, S., Van Broeckhoven, C., Wildenauer, D. & Crow, T. J., Jun 12 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 3, p. 434-449 16 p.

Research output: Contribution to journalArticle

36 Scopus citations

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: Skewed in carriers of a duplication and random in carriers of point mutations

Woodward, K., Kirtland, K., Dlouhy, S., Raskind, W., Bird, T., Malcolm, S. & Abeliovich, D., Jun 1 2000, In : European Journal of Human Genetics. 8, 6, p. 449-454 6 p.

Research output: Contribution to journalArticle

26 Scopus citations
2001

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., Jan 1 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., Jan 1 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., Jan 1 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

384 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

Development of pulmonary fibrosis in fibrinogen-deficient mice

Wilberding, J. A., Ploplis, V. A., McLennan, L., Liang, Z., Cornelissen, I., Feldman, M., Deford, M. E., Rosen, E. D. & Castellino, F. J., Jan 1 2001, In : Annals of the New York Academy of Sciences. 936, p. 542-548 7 p.

Research output: Contribution to journalArticle

35 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., Jan 1 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

Introduction of large insert DNA into mammalian cells and embryos.

Reeves, R. H., Cabin, D. E. & Lamb, B., Nov 2001, In : Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]. Chapter 5, p. Unit 5.12

Research output: Contribution to journalArticle

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

1263 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., Oct 23 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

55 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., Dec 1 2001, In : Journal of Genetic Counseling. 10, 1, p. 41-51 11 p.

Research output: Contribution to journalArticle

25 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

64 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., Jan 1 2001, In : Archives of Neurology. 58, 2, p. 273-278 6 p.

Research output: Contribution to journalArticle

Open Access
159 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

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

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

Stable gene expression from a mammalian artificial chromosome

Grimes, B. R., Schindelhauer, D., McGill, N. I., Ross, A., Ebersole, T. A. & Cooke, H. J., 2001, In : EMBO Reports. 2, 10, p. 910-914 5 p.

Research output: Contribution to journalArticle

73 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 inhibitors - Oligonucleotide phosphoramidates as potential therapeutic agents

Gryaznov, S., Pongracz, K., Matray, T., Schultz, R., Pruzan, R., Aimi, J., Chin, A., Harley, C., Shea-Herbert, B., Shay, J., Oshima, Y., Asai, A. & Yamashita, Y., 2001, In : Nucleosides, Nucleotides and Nucleic Acids. 20, 4-7, p. 401-410 10 p.

Research output: Contribution to journalArticle

59 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 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., Jan 1 2001, In : Journal of dental research. 80, 8, p. 1716-1720 5 p.

Research output: Contribution to journalArticle

29 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

1331 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

78 Scopus citations