Medical & Molecular Genetics

Publications

The genes for mouse salivary androgen-binding protein (ABP) subunits alpha and gamma are located on chromosome 7

Dlouhy, S. R., Taylor, B. A. & Karn, R. C., 1987, In : Genetics. 115, 3, p. 535-543 9 p.

Research output: Contribution to journalArticle

44 Scopus citations

The Gene Therapy Resource Program: A Decade of Dedication to Translational Research by the National Heart, Lung, and Blood Institute

Flotte, T. R., Daniels, E., Benson, J., Bevett-Rose, J. M., Cornetta, K., Diggins, M., Johnston, J., Sepelak, S., Van Der Loo, J. C. M., Wilson, J. M. & McDonald, C. L., Dec 1 2017, In : Human Gene Therapy Clinical Development. 28, 4, p. 178-186 9 p.

Research output: Contribution to journalReview article

1 Scopus citations

The genetics of alcoholism: Identifying specific genes through family studies

Edenberg, H. J. & Foroud, T., Sep 2006, In : Addiction Biology. 11, 3-4, p. 386-396 11 p.

Research output: Contribution to journalReview article

162 Scopus citations

The genetics of dementia

Farlow, J. L. & Foroud, T., 2013, In : Seminars in neurology. 33, 4, p. 417-422 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls

Bipolar Disorder Working Group of the Psychiatric Genomics Consortium & Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Jul 15 2020, In : Biological psychiatry. 88, 2, p. 169-184 16 p.

Research output: Contribution to journalArticle

7 Scopus citations

The human A1 adenosine receptor: ligand binding properties, sites of somatic expression and chromosomal localization

Rivkees, S. A., Lasbury, M. E., Stiles, G. S., Henegariu, O., Curtis, C. & Vance, G., Sep 1 1995, In : Endocrine. 3, 9, p. 623-629 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

The immunomodulatory properties of mesenchymal stem cells: Implications for surgical disease

Weil, B. R., Manukyan, M. C., Herrmann, J. L., Abarbanell, A. M., Poynter, J. A., Wang, Y. & Meldrum, D. R., May 1 2011, In : Journal of Surgical Research. 167, 1, p. 78-86 9 p.

Research output: Contribution to journalReview article

23 Scopus citations

The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use

Haas, D. M., Lehmann, A. S., Skaar, T., Philips, S., McCormick, C. L., Beagle, K., Hebbring, S. J., Dantzer, J., Li, L. & Jung, J., May 2012, In : American Journal of Obstetrics and Gynecology. 206, 5, p. 447.e17-447.e24

Research output: Contribution to journalArticle

19 Scopus citations

The impact of glucocorticoid polymorphisms on markers of neonatal respiratory disease after antenatal betamethasone administration

Haas, D. M., Dantzer, J., Lehmann, A. S., Philips, S., Skaar, T. C., McCormick, C. L., Hebbring, S. J., Jung, J. & Li, L., Mar 2013, In : American Journal of Obstetrics and Gynecology. 208, 3, p. 215.e1-215.e6

Research output: Contribution to journalArticle

17 Scopus citations

The impact of oculomotor functioning on neuropsychological performance in Huntington disease

Carvalho, J. O., Long, J. D., Westervelt, H. J., Smith, M. M., Bruce, J. M., Kim, J. I., Mills, J. A., Paulsen, J. S., De Soriano, I., Shadrick, C., Miller, A., Chiu, E., Preston, J., Goh, A., Antonopoulos, S., Loi, S., Chua, P., Komiti, A., Raymond, L., Decolongon, J. & 107 others, Fan, M., Coleman, A., Ross, C. A., Varvaris, M., Ong, M., Yoritomo, N., Mallonee, W. M., Suter, G., Samii, A., Freney, E. P., Macaraeg, A., Jones, R., Wood-Siverio, C., Factor, S. A., Barker, R. A., Mason, S., Guzman, N. V., McCusker, E., Griffith, J., Loy, C., McMillan, J., Gunn, D., Orth, M., Süßmuth, S., Barth, K., Trautmann, S., Schwenk, D., Eschenbach, C., Quaid, K., Wesson, M., Wojcieszek, J., Guttman, M., Sheinberg, A., Law, A., Karmalkar, I., Perlman, S., Clemente, B., Geschwind, M. D., Sha, S., Winer, J., Satris, G., Warner, T., Burrows, M., Rosser, A., Price, K., Hunt, S., Marshall, F., Chesire, A., Wodarski, M., Hickey, C., Panegyres, P., Lee, J., Tedesco, M., Maxwell, B., Perlmutter, J., Barton, S., Smith, S., Miedzybrodzka, Z., Rae, D., Vaughan, V., D'Alessandro, M., Craufurd, D., Bek, J., Howard, E., Mazzoni, P., Marder, K., Wasserman, P., Kumar, R., Erickson, D., Reeves, C., Nickels, B., Wheelock, V., Kjer, L., Martin, A., Farias, S., Martin, W., Suchowersky, O., King, P., Wieler, M., Sran, S., Ahmed, A., Rao, S., Reece, C., Bura, A., Mourany, L., Danzer, P., Montross, K., Harrington, D., Westervalt, H., Aylward, E., Moser, D. J., Williams, J., Downing, N., Magnotta, V. A., Johnson, H. J., Brashers-Krug, T., Vaidya, J., O'Leary, D., Young Kim, E., Lourens, S., Zhang, Y., Lu, W., Erwin, C., Nance, M., Bockholt, H. J., Evans, J. & Zschiegner, R., Feb 7 2016, In : Journal of Clinical and Experimental Neuropsychology. 38, 2, p. 217-226 10 p.

Research output: Contribution to journalArticle

3 Scopus citations
12 Scopus citations

The influence of cis-regulatory elements on DNA methylation fidelity

Teng, M., Balch, C., Liu, Y., Li, M., Huang, T. H. M., Wang, Y., Nephew, K. P. & Li, L., Mar 6 2012, In : PloS one. 7, 3, e32928.

Research output: Contribution to journalArticle

6 Scopus citations

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

on Behalf of the LEFFTDS Consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 22-36 15 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

The Martin-Bell Syndrome: The Physician's Dilemma

Berger, C. A. & Weaver, D. D., Feb 1985, In : American Journal of Diseases of Children. 139, 2, 1 p.

Research output: Contribution to journalLetter

The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression

Hum, J. M., Clinkenbeard, E. L., Ip, C., Cass, T. A., Allen, M. & White, K. E., Jun 1 2017, In : Bone Reports. 6, p. 38-43 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

The Moebius syndrome: Aetiology, incidence of mental retardation, and genetics

Lipson, T., Webster, W. & Weaver, D. D., Jan 1 1990, In : Journal of Medical Genetics. 27, 8, p. 533-535 3 p.

Research output: Contribution to journalLetter

9 Scopus citations

The mouse salivary androgen-binding protein (ABP) gene cluster on chromosomes 7: Characterization and evolutionary relationships

Laukaitis, C. M., Dlouhy, S. R. & Karn, R. C., Oct 1 2003, In : Mammalian Genome. 14, 10, p. 679-691 13 p.

Research output: Contribution to journalArticle

15 Scopus citations

The National Gene Vector Biorepository: Eleven Years of Providing Resources to the Gene Therapy Community

Cornetta, K., Matheson, L., Long, R. & Duffy, L., Feb 2020, In : Human gene therapy. 31, 3-4, p. 145-150 6 p.

Research output: Contribution to journalReview article

Open Access
1 Scopus citations

The national gene vector biorepository's pharm/tox database

Cornetta, K. & Matheson, L., 2009, In : Molecular Therapy. 17, 4, p. 582-584 3 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

The North American Multiple System Atrophy Study Group

Gilman, S., May, S. J., Shults, C. W., Tanner, C. M., Kukull, W., Lee, V. M. Y., Masliah, E., Low, P., Sandroni, P., Trojanowski, J. Q., Ozelius, L. & Foroud, T., Dec 2005, In : Journal of Neural Transmission. 112, 12, p. 1687-1694 8 p.

Research output: Contribution to journalArticle

57 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

The novel Tau mutation G335S: Clinical, neuropathological and molecular characterization

Spina, S., Murrell, J. R., Yoshida, H., Ghetti, B., Bermingham, N., Sweeney, B., Dlouhy, S. R., Crowther, R. A., Goedert, M. & Keohane, C., Apr 1 2007, In : Acta Neuropathologica. 113, 4, p. 461-470 10 p.

Research output: Contribution to journalArticle

26 Scopus citations

The opioid system in alcohol and drug dependence: Family-based association study

Xuei, X., Flury-Wetherill, L., Bierut, L., Dick, D., Nurnberger, J., Foroud, T. & Edenberg, H. J., Oct 5 2007, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 144, 7, p. 877-884 8 p.

Research output: Contribution to journalArticle

61 Scopus citations

Theoretical and experimental evidence for hysteresis in cell proliferation.

Bai, S., Goodrich, D., Thron, C. D., Tecarro, E. & Obeyesekere, M., Jan 1 2003, In : Cell cycle (Georgetown, Tex.). 2, 1, p. 46-51 6 p.

Research output: Contribution to journalArticle

12 Scopus citations
30 Scopus citations

The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort

the Parkinson's Progression Markers Initiative, Dec 2018, In : Annals of Clinical and Translational Neurology. 5, 12, p. 1460-1477 18 p.

Research output: Contribution to journalArticle

39 Scopus citations

The pathophysiology of early-stage chronic kidney disease-mineral bone disorder (CKD-MBD) and response to phosphate binders in the rat

Moe, S. M., Radcliffe, J. S., White, K. E., Gattone, V. H., Seifert, M. F., Chen, X., Aldridge, B. & Chen, N. X., Nov 2011, In : Journal of Bone and Mineral Research. 26, 11, p. 2672-2681 10 p.

Research output: Contribution to journalArticle

66 Scopus citations

The Phosphoinositide-3 kinase survival signaling mechanism in sepsis

Manukyan, M. C., Weil, B. R., Wang, Y., Abarbanell, A. M., Herrmann, J. L., Poynter, J. A. & Meldrum, D. R., Nov 2010, In : Shock. 34, 5, p. 442-449 8 p.

Research output: Contribution to journalReview article

25 Scopus citations

The PI3K-Akt-mTOR pathway regulates a oligomer induced neuronal cell cycle events

Bhaskar, K., Miller, M., Chludzinski, A., Herrup, K., Zagorski, M. & Lamb, B. T., 2009, In : Molecular Neurodegeneration. 4, 1, 14.

Research output: Contribution to journalArticle

113 Scopus citations

The potential of translational bioinformatics approaches for pharmacology research

Li, L., Oct 1 2015, In : British Journal of Clinical Pharmacology. 80, 4, p. 862-867 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

The Presence of Telomere Fusion in Sporadic Colon Cancer Independently of Disease Stage, TP53/KRAS Mutation Status, Mean Telomere Length, and Telomerase Activity

Tanaka, H., Beam, M. J. & Caruana, K., Jan 1 2014, In : Neoplasia. 16, 10, p. 814-823 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Feldman, H. R., Dlouhy, S. R., Lah, M. D., Payne, K. K. & Weaver, D. D., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 300-305 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor’s Perspective

Verbrugge, J., Rumbaugh, M., Cook, L., Schulze, J., Miller, M., Heathers, L., Arnedo, V., Kuhl, M. M. G. & Foroud, T., Apr 1 2018, In : Journal of Genetic Counseling. 27, 2, p. 326-328 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

The Protein Kinase Double-Stranded RNA-Dependent (PKR) Enhances Protection against Disease Cause by a Non-Viral Pathogen

Ogolla, P. S., Portillo, J. A. C., White, C. L., Patel, K., Lamb, B., Sen, G. C. & Subauste, C. S., Aug 2013, In : PLoS pathogens. 9, 8, e1003557.

Research output: Contribution to journalArticle

20 Scopus citations

The proteolipid protein gene: Double, double, . . . and trouble

Hodes, M. E. & Dlouhy, S. R., Jun 27 1996, In : American Journal of Human Genetics. 59, 1, p. 12-15 4 p.

Research output: Contribution to journalEditorial

22 Scopus citations

The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice

Vidal, R., Sammeta, N., Garringer, H. J., Sambamurti, K., Miravalle, L., Lamb, B. T. & Ghetti, B., Jul 2012, In : FASEB Journal. 26, 7, p. 2899-2910 12 p.

Research output: Contribution to journalArticle

11 Scopus citations

Therapy-related myeloid neoplasm with bonemarrow involvement, myelosarcoma, and a t(8;16)(p11.2;p13.3)-a case report

Chakraborty, S., Adams, J., Nassiri, M. & Vance, G. H., Oct 1 2014, In : Cancer Genetics. 207, 10-12, p. 511-515 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset

Andresen, J. M., Gayán, J., Djoussé, L., Roberts, S., Brocklebank, D., Cherny, S. S., Cardon, L. R., Gusella, J. F., Macdonald, M. E., Myers, R. H., Housman, D. E., Wexler, N. S., Lorimer, J., Porter, J., Gomez, F., Moskowitz, C., Gerstenhaber, K. P., Shackell, E., Marder, K., Penchaszadeh, G. & 78 others, Roberts, S. A., Brickman, A., Brocklebank, D., Gray, J., Dlouhy, S. R., Wiktorski, S., Hodes, M. E., Conneally, P. M., Penney, J. B., Gusella, J. F., Cha, J. H., Irizarry, M., Rosas, D., Hersch, S., Hollingsworth, Z., Young, A. B., Housman, D. E., de Young, M. M., Bonilla, E., Stillings, T., Negrette, A., Snodgrass, S. R., Martinez-Jaurrieta, M. D., Ramos-Arroyoh, M. A., Bickham, J., Ramos, J. S., Marshall, F., Shoulson, I., Rey, G. J., Feigin, A., Arnheim, N., Acevedo-Cruz, A., Acosta, L., Alvir, J., Fischbeck, K., Thompson, L. M., Young, A., Dure, L., O'Brien, C. J., Paulsen, J., Moran, S. P., Krch, D., Hogarth, P., Higgins, D. S., Landwehrmeyer, B., Hayden, M. R., Almqvist, E. W., Brinkman, R. R., Suchowersky, O., Durr, A., Dodé, C. C., Squitieri, F., Morrison, P. J., Nance, M., Ross, C. A., Margolis, R. L., Rosenblatt, A., Estrella, G. T., Cabrero, D. M., Trent, R. J. A., McCusker, E., Novelletto, A., Frontali, M., Paulsen, J. S., Jones, R., Zanko, A., Ashizawa, T., Lazzarini, A., Li, J. L., Wheeler, V. C., Russ, A. L., Xu, G., Mysore, J. S., Gillis, T., Hakky, M., Cupples, L. A., Saint-Hilaire, M. & Hersch, S. M., May 2007, In : Annals of Human Genetics. 71, 3, p. 295-301 7 p.

Research output: Contribution to journalArticle

81 Scopus citations

The Relationship Between Colonic Macrophages and MicroRNA-128 in the Pathogenesis of Slow Transit Constipation

Liu, W., Zhang, Q., Li, S., Li, L., Ding, Z., Qian, Q., Fan, L. & Jiang, C., Aug 23 2015, In : Digestive Diseases and Sciences. 60, 8, p. 2304-2315 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

The relationship between smoking and replicated sequence variants on chromosomes 8 and 9 with familial intracranial aneurysm

Deka, R., Koller, D. L., Lai, D., Indugula, S. R., Sun, G., Woo, D., Sauerbeck, L., Moomaw, C. J., Hornung, R., Connolly, E. S., Anderson, C., Rouleau, G., Meissner, I., Bailey-Wilson, J. E., Huston, J., Brown, R. D., Kleindorfer, D. O., Flaherty, M. L., Langefeld, C. D., Foroud, T. & 1 others, Broderick, J. P., Jun 2010, In : Stroke. 41, 6, p. 1132-1137 6 p.

Research output: Contribution to journalArticle

40 Scopus citations

The Role and Therapeutic Potential of miRNAs in Colorectal Liver Metastasis

Sahu, S. S., Dey, S., Nabinger, S. C., Jiang, G., Bates, A., Tanaka, H., Liu, Y. & Kota, J., Dec 1 2019, In : Scientific reports. 9, 1, 15803.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

The role of apolipoprotein A-I helix 10 in apolipoprotein-mediated cholesterol efflux via the ATP-binding cassette transporter ABCA1

Panagotopulos, S. E., Witting, S. R., Horace, E. M., Hui, D. Y., Nicholas Maiorano, J. & Sean Davidson, W., Oct 18 2002, In : Journal of Biological Chemistry. 277, 42, p. 39477-39484 8 p.

Research output: Contribution to journalArticle

109 Scopus citations

The role of C. elegans Ena/VASP homolog UNC-34 in neuronal polarity and motility

Fleming, T., Chien, S. C., Vanderzalm, P. J., Dell, M., Gavin, M. K., Forrester, W. C. & Garriga, G., Aug 1 2010, In : Developmental Biology. 344, 1, p. 94-106 13 p.

Research output: Contribution to journalArticle

19 Scopus citations

The role of cardiovascular risk factors and stroke in familial Alzheimer disease

Tosto, G., Bird, T. D., Bennett, D. A., Boeve, B. F., Brickman, A. M., Cruchaga, C., Faber, K., Foroud, T. M., Farlow, M., Goate, A. M., Graff-Radford, N. R., Lantigua, R., Manly, J., Ottman, R., Rosenberg, R., Schaid, D. J., Schupf, N., Stern, Y., Sweet, R. A. & Mayeux, R., Oct 1 2016, In : JAMA Neurology. 73, 10, p. 1231-1237 7 p.

Research output: Contribution to journalArticle

26 Scopus citations

The role of DMP1 in autosomal recessive hypophosphatemic rickets.

Farrow, E. G., Davis, S. I., Ward, L. M. & White, K. E., Jan 1 2007, In : Journal of musculoskeletal & neuronal interactions. 7, 4, p. 310-312 3 p.

Research output: Contribution to journalArticle

7 Scopus citations

The role of GABRA2 in risk for conduct disorder and alcohol and drug dependence across developmental stages

Dick, D. M., Bierut, L., Hinrichs, A., Fox, L., Bucholz, K. K., Kramer, J., Kuperman, S., Hesselbrock, V., Schuckit, M., Almasy, L., Tischfield, J., Porjesz, B., Begleiter, H., Nurnberger, J., Xuei, X., Edenberg, H. J. & Foroud, T., Jul 1 2006, In : Behavior Genetics. 36, 4, p. 577-590 14 p.

Research output: Contribution to journalArticle

172 Scopus citations

The role of mutant UDP-N-acetyl-α-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis

Garringer, H. J., Fisher, C., Larsson, T. E., Davis, S. I., Koller, D. L., Cullen, M. J., Draman, M. S., Conlon, N., Jain, A., Fedarko, N. S., Dasgupta, B. & White, K. E., Oct 2006, In : Journal of Clinical Endocrinology and Metabolism. 91, 10, p. 4037-4042 6 p.

Research output: Contribution to journalArticle

81 Scopus citations

The role of oxidative stress in the pathophysiology of cerebrovascular lesions in Alzheimer's disease

Aliev, G., Smith, M. A., Seyidova, D., Neal, M. L., Lamb, B. T., Nunomura, A., Gasimov, E. K., Vinters, H. V., Perry, G., Lamanna, J. C. & Friedland, R. P., 2002, In : Brain Pathology. 12, 1, p. 21-35 15 p.

Research output: Contribution to journalReview article

149 Scopus citations
123 Scopus citations