Medical & Molecular Genetics

Publications

Filter
Article
Article

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

Antitumor activity and immunotherapeutic properties of Flt3-ligand in a murine breast cancer model

Chen, K., Braun, S., Lyman, S., Fan, Y., Traycoff, C. M., Wiebke, E. A., Gaddy, J., Sledge, G., Broxmeyer, H. E. & Cornetta, K., Aug 15 1997, In : Cancer Research. 57, 16, p. 3511-3516 6 p.

Research output: Contribution to journalArticle

108 Scopus citations

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Castelluccio, V. J., Vetrini, F., Lynnes, T., Jones, J., Holloway, L., Belonis, A., Breman, A. M., Graham, B. H., Sapp, K., Wilson, T., Schwartz, C. E., Pratt, V. M. & Weaver, D. D., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2357-2364 8 p.

Research output: Contribution to journalArticle

An unusual craniofacial condition: Holoprosencephaly, ocular hyperterolism, and anterior encephalocele associated with tissue bands

Moore, C. A., Weaver, D. D. & DeMyer, W. E., Jan 1 1988, In : Dysmorphology and Clinical Genetics. 2, 3, p. 68-71 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Anxiety proneness linked to epistatic loci in genome scan of human personality traits

Cloninger, C. R., Van Eerdewegh, P., Goate, A., Edenberg, H. J., Blangero, J., Hesselbrock, V., Reich, T., Nurnberger, J., Schuckit, M., Porjesz, B., Crowe, R., Rice, J. P., Foroud, T., Przybeck, T. R., Almasy, L., Bucholz, K., Wu, W., Shears, S., Carr, K., Crose, C. & 6 others, Willig, C., Zhao, J., Tischfield, J. A., Li, T. K., Conneally, P. M. & Begleiter, H., Jul 10 1998, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 81, 4, p. 313-317 5 p.

Research output: Contribution to journalArticle

133 Scopus citations

A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21

White, K. E., Biber, J., Murer, H. & Econs, M. J., Dec 1 1998, In : Annals of Human Genetics. 62, 4, p. 287-290 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

A pharmacogenetics study to predict outcome in patients receiving anti-VEGF therapy in age related macular degeneration

Kitchens, J. W., Kassem, N., Wood, W., Stone, T. W., Isernhagen, R., Wood, E., Hancock, B. A., Radovich, M., Waymire, J., Li, L. & Schneider, B. P., Oct 9 2013, In : Clinical Ophthalmology. 7, p. 1987-1993 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

A phase 1 and pharmacodynamic study of decitabine in combination with carboplatin in patients with recurrent, platinum-resistant, epithelial ovarian cancer

Fang, F., Balch, C., Schilder, J., Breen, T., Zhang, S., Shen, C., Li, L., Kulesavage, C., Snyder, A. J., Nephew, K. P. & Matei, D. E., Sep 1 2010, In : Cancer. 116, 17, p. 4043-4053 11 p.

Research output: Contribution to journalArticle

105 Scopus citations

A phase I, pharmacokinetic and pharmacodynamic dose escalation trial of weekly paclitaxel with interferon-α2b in patients with solid tumors

Schneider, B., Fukunaga, A., Murry, D., Yoder, C., Fife, K., Foster, A., Rosenberg, L., Kelich, S., Li, L. & Sweeney, C., Feb 1 2007, In : Cancer Chemotherapy and Pharmacology. 59, 2, p. 261-268 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

A Phase II trial of oral diethylstilbesterol as a second-line hormonal agent in advanced prostate cancer

Smith, D. C., Redman, B. G., Flaherty, L. E., LI, L., Strawderman, M. & Pienta, K. J., Aug 1 1998, In : Urology. 52, 2, p. 257-260 4 p.

Research output: Contribution to journalArticle

145 Scopus citations

A pilot assessment of parental practices and attitudes regarding risk disclosure and clinical research involving children in Huntington disease families

Dure, L. S., Quaid, K. & Beasley, T. M., Nov 1 2008, In : Genetics in Medicine. 10, 11, p. 811-819 9 p.

Research output: Contribution to journalArticle

2 Scopus citations
19 Scopus citations

A plasma telomeric cell-free DNA level in unaffected women with BRCA1 or/and BRCA2 mutations: A pilot study

Dey, S., Marino, N., Bishop, K., Dahlgren, P. N., Shendre, A., Storniolo, A. M., He, C. & Tanaka, H., 2018, In : Oncotarget. 9, 3, p. 4214-4222 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

APOE4-specific changes in Aβ accumulation in a new transgenic mouse model of alzheimer disease

Youmans, K. L., Tai, L. M., Nwabuisi-Heath, E., Jungbauer, L., Kanekiyo, T., Gan, M., Kim, J., Eimer, W. A., Estus, S., Rebeck, G. W., Weeber, E. J., Bu, G., Yu, C. & LaDu, M. J., Dec 7 2012, In : Journal of Biological Chemistry. 287, 50, p. 41774-41786 13 p.

Research output: Contribution to journalArticle

Open Access
121 Scopus citations

APOE and BCHE as modulators of cerebral amyloid deposition: A florbetapir PET genome-wide association study

Ramanan, V. K., Risacher, S. L., Nho, K., Kim, S., Swaminathan, S., Shen, L., Foroud, T. M., Hakonarson, H., Huentelman, M. J., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Koeppe, R. A., Jagust, W. J., Weiner, M. W. & Saykin, A. J., Mar 1 2014, In : Molecular Psychiatry. 19, 3, p. 351-357 7 p.

Research output: Contribution to journalArticle

112 Scopus citations

APOE effect on Alzheimer's disease biomarkers in older adults with significant memory concern

Risacher, S. L., Kim, S., Nho, K., Foroud, T., Shen, L., Petersen, R. C., Jack, C. R., Beckett, L. A., Aisen, P. S., Koeppe, R. A., Jagust, W. J., Shaw, L. M., Trojanowski, J. Q., Weiner, M. W., Saykin, A. J. & Alzheimer's Disease Neuroimaging Initiative (ADNI), D. N. I. ADNI., Dec 1 2015, In : Alzheimer's and Dementia. 11, 12, p. 1417-1429 13 p.

Research output: Contribution to journalArticle

76 Scopus citations

APOE ε4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba

Hendrie, H. C., Murrell, J., Baiyewu, O., Lane, K. A., Purnell, C., Ogunniyi, A., Unverzagt, F. W., Hall, K., Callahan, C. M., Saykin, A. J., Gureje, O., Hake, A., Foroud, T. & Gao, S., Jun 2014, In : International Psychogeriatrics. 26, 6, p. 977-985 9 p.

Research output: Contribution to journalArticle

29 Scopus citations

A Poisson mixture model to identify changes in RNA polymerase II binding quantity using high-throughput sequencing technology

Feng, W., Liu, Y., Wu, J., Nephew, K. P., Huang, T. H. M. & Li, L., Sep 16 2008, In : BMC genomics. 9, SUPPL. 2, S23.

Research output: Contribution to journalArticle

27 Scopus citations

A population pharmacokinetic model with time-dependent covariates measured with errors

Li, L., Lin, X., Brown, M. B., Gupta, S. & Lee, K. H., Jun 1 2004, In : Biometrics. 60, 2, p. 451-460 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

A portable BRCA1-HAC (human artificial chromosome) module for analysis of BRCA1 tumor suppressor function

Kononenko, A. V., Bansal, R., Lee, N. C. O., Grimes, B. R., Masumoto, H., Earnshaw, W. C., Larionov, V. & Kouprina, N., Dec 1 2014, In : Nucleic acids research. 42, 21

Research output: Contribution to journalArticle

21 Scopus citations

Apparent replication of suggestive linkage on chromosome 16 in the NIMH genetics initiative bipolar pedigrees

Dick, D. M., Foroud, T., Edenberg, H. J., Miller, M., Bowman, E., Leela Rau, N., Raymond Depaulo, J., McInnis, M., Gershon, E., McMahon, F., Rice, J. P., Bierut, L. J., Reich, T. & Nurnberger, J., May 8 2002, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 114, 4, p. 407-412 6 p.

Research output: Contribution to journalArticle

32 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

Applications of the Polymerase Chain Reaction in Retroviral-Mediated Gene Transfer and the Analysis of Gene-Marked Human TIL Cells

Morgan, R. A., Cornetta, K. & Anderson, W. F., Jul 1 1990, In : Human gene therapy. 1, 2, p. 135-149 15 p.

Research output: Contribution to journalArticle

93 Scopus citations

Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Major Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, Dec 1 2018, In : Communications Biology. 1, 1, 163.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

A principal components analysis of the abbreviated desires for alcohol questionnaire (DAQ)

Kramer, J. R., Chan, G., Hesselbrock, V. M., Kuperman, S., Bucholz, K. K., Edenberg, H. J., Schuckit, M. A., Nurnberger, J. I., Foroud, T., Dick, D. M., Bierut, L. J. & Porjesz, B., Jan 2010, In : Journal of studies on alcohol and drugs. 71, 1, p. 150-155 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

A proximal culture method to study paracrine signaling between cells

Dasari, S., Pandhiri, T., Haley, J., Lenz, D. & Mitra, A. K., Aug 28 2018, In : Journal of Visualized Experiments. 2018, 138, e58144.

Research output: Contribution to journalArticle

2 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

A quantitative trait locus for alcohol consumption in selectively bred rat lines

Carr, L. G., Foroud, T., Bice, P., Gobbett, T., Ivashina, J., Edenberg, H., Lumeng, L. & Li, T. K., Jan 1 1998, In : Alcoholism: Clinical and Experimental Research. 22, 4, p. 884-887 4 p.

Research output: Contribution to journalArticle

172 Scopus citations

A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease

Green, R. C., Christensen, K. D., Cupples, L. A., Relkin, N. R., Whitehouse, P. J., Royal, C. D. M., Obisesan, T. O., Cook-Deegan, R., Linnenbringer, E., Butson, M. B., Fasaye, G. A., Levinson, E., Roberts, J. S., Bhatt, D., Biesecker, B., Blacker, D., Chen, C., Cox, E., Davis, J. G., Farrer, L. & 22 others, Griffith, P., Harkins, K., Hiraki, S., Johnson, M., Johnson, S., Juengst, E., Karlawish, J., Le, L., McCarty Wood, E., Obisesan, T., Post, S., Quaid, K., Ravdin, L., Roter, D., Stern, R., Sadovnick, A., Sami, S., Sankar, P., Topol, E., Uhlmann, W., Waterston, L. & Wright, L., Oct 2015, In : Alzheimer's and Dementia. 11, 10, p. 1222-1230 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 2019, In : Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

A rat model of chronic kidney disease-mineral bone disorder

Moe, S. M., Chen, N. X., Seifert, M. F., Sinders, R. M., Duan, D., Chen, X., Liang, Y., Radcliff, J. S., White, K. E. & Gattone, V. H., Jan 2009, In : Kidney international. 75, 2, p. 176-184 9 p.

Research output: Contribution to journalArticle

97 Scopus citations

Are cognitive changes progressive in prediagnostic HD?

Stout, J. C., Weaver, M., Solomon, A. C., Queller, S., Hui, S., Johnson, S. A., Gray, J., Beristain, X., Wojcieszek, J. & Foroud, T., Dec 1 2007, In : Cognitive and Behavioral Neurology. 20, 4, p. 212-218 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., Mefford, H. C., Kidd, J. M., Browning, S. R., Browning, B. L., Dickel, D. E., Levy, D. L., Ballif, B. C., Platky, K., Farber, D. M., Gowans, G. C. & 39 others, Wetherbee, J. J., Asamoah, A., Weaver, D. D., Mark, P. R., Dickerson, J., Garg, B. P., Ellingwood, S. A., Smith, R., Banks, V. C., Smith, W., McDonald, M. T., Hoo, J. J., French, B. N., Hudson, C., Johnson, J. P., Ozmore, J. R., Moeschler, J. B., Surti, U., Escobar, L. F., El-Khechen, D., Gorski, J. L., Kussmann, J., Salbert, B., Lacassie, Y., Biser, A., McDonald-Mcginn, D. M., Zackai, E. H., Deardorff, M. A., Shaikh, T. H., Haan, E., Friend, K. L., Fichera, M., Romano, C., Gécz, J., Delisi, L. E., Sebat, J., King, M. C., Shaffer, L. G. & Eichler, E. E., Mar 2010, In : Nature genetics. 42, 3, p. 203-209 7 p.

Research output: Contribution to journalArticle

411 Scopus citations

A regulatory variation in OPRK1, the gene encoding the κ-opioid receptor, is associated with alcohol dependence

Edenberg, H. J., Wang, J., Tian, H., Pochareddy, S., Xuei, X., Wetherill, L., Goate, A., Hinrichs, T., Kuperman, S., Nurnberger, J. I., Schuckit, M., Tischfield, J. A. & Foroud, T., Jun 15 2008, In : Human molecular genetics. 17, 12, p. 1783-1789 7 p.

Research output: Contribution to journalArticle

55 Scopus citations

A reporter system for replication-competent gammaretroviruses: the inGluc-MLV-DERSE assay

Aloia, A. L., Duffy, L., Pak, V., Lee, K. E., Sanchez-Martinez, S., Derse, D., Heidecker, G., Cornetta, K. & Rein, A., Feb 1 2013, In : Gene Therapy. 20, 2, p. 169-176 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones

Heyen, C. A., Delk, P. R., Bull, M. J. & Weaver, D. D., Dec 15 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3120-3125 6 p.

Research output: Contribution to journalArticle

6 Scopus citations

A report of three patients with an interstitial deletion of chromosome 15q24

Cushman, L. J., Torres-Martinez, W., Cherry, A. M., Manning, M. A., Abdul-Rahman, O., Anderson, C. E., Punnett, H. H., Thurston, V. C., Sweeney, D. & Vance, G. H., Aug 15 2005, In : American Journal of Medical Genetics. 137 A, 1, p. 65-71 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

A retroviral vector expressing human interferon gamma upregulates MHC antigen expression in human breast cancer and leukemia cell lines.

Cornetta, K., Berebitsky, D., Behnia, M., Traycoff, C., Srour, E. F. & Sledge, G. W., Jun 1994, In : Cancer gene therapy. 1, 2, p. 91-98 8 p.

Research output: Contribution to journalArticle

14 Scopus citations

Arginine 391 in subunit I of the cytochrome bd quinol oxidase from Escherichia coli stabilizes the reduced form of the hemes and is essential for quinol oxidase activity

Zhang, J., Hellwig, P., Osborne, J. P. & Gennis, R. B., Dec 24 2004, In : Journal of Biological Chemistry. 279, 52, p. 53980-53987 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

Aripiprazole in pervasive developmental disorder not otherwise specified and asperger's disorder: A 14-week, prospective, open-label study

Stigler, K. A., Diener, J. T., Kohn, A. E., Li, L., Erickson, C. A., Posey, D. J. & McDougle, C. J., Jun 1 2009, In : Journal of Child and Adolescent Psychopharmacology. 19, 3, p. 265-274 10 p.

Research output: Contribution to journalArticle

64 Scopus citations

Aromatase inhibitor-induced modulation of breast density: Clinical and genetic effects

Henry, N. L., Chan, H. P., Dantzer, J., Goswami, C. P., Li, L., Skaar, T. C., Rae, J. M., Desta, Z., Khouri, N., Pinsky, R., Oesterreich, S., Zhou, C., Hadjiiski, L., Philips, S., Robarge, J., Nguyen, A. T., Storniolo, A. M., Flockhart, D. A., Hayes, D. F., Helvie, M. A. & 1 others, Stearns, V., Oct 29 2013, In : British Journal of Cancer. 109, 9, p. 2331-2339 9 p.

Research output: Contribution to journalArticle

16 Scopus citations

Artificial ants deposit pheromone to search for regulatory DNA elements

Liu, Y. & Yokota, H., Aug 30 2006, In : BMC genomics. 7, 221.

Research output: Contribution to journalArticle

6 Scopus citations

As currently formulated, ISCN FISH nomenclature make it not practical for use in clinical test reports or cytogenetic databases

Mascarello, J. T., Cooley, L. D., Davison, K., Dewald, G. W., Brothman, A. R., Herrman, M., Park, J. P., Persons, D. L., Rao, K. W., Schneider, N. R. & Vance, G. H., Sep 1 2003, In : Genetics in Medicine. 5, 5, p. 370-377 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

A semi-mechanistic metabolism model of CYP3A substrates in pregnancy: Predicting changes in midazolam and nifedipine pharmacokinetics

Quinney, S. K., Mohamed, A. N., Hebert, M. F., Haas, D. M., Clark, S., Umans, J. G., Caritis, S. N. & Li, L., Dec 1 2012, In : CPT: Pharmacometrics and Systems Pharmacology. 1, 1, e2.

Research output: Contribution to journalArticle

15 Scopus citations

A sex-adjusted and age-adjusted genome screen for nested alcohol dependence diagnoses

Corbett, J., Saccone, N. L., Foroud, T., Goate, A., Edenberg, H., Nurnberger, J., Porjesz, B., Begleiter, H., Reich, T. & Rice, J. P., Mar 1 2005, In : Psychiatric genetics. 15, 1, p. 25-30 6 p.

Research output: Contribution to journalArticle

19 Scopus citations

A simple and effective method to generate lentiviral vectors for ex vivo gene delivery to mature human peripheral blood lymphocytes

Yang, S., Karne, N. K., Goff, S. L., Black, M. A., Xu, H., Bischof, D., Cornetta, K., Rosenberg, S. A., Morgan, R. A. & Feldman, S. A., Apr 1 2012, In : Human Gene Therapy Methods. 23, 2, p. 73-83 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

A snp in steroid receptor coactivator-1 disrupts a gsk3β phosphorylation site and is associated with altered tamoxifen response in bone

Hartmaier, R. J., Richter, A. S., Gillihan, R. M., Sallit, J. Z., Mcguire, S. E., Wang, J., Lee, A. V., Osborne, C. K., O'Malley, B. W., Brown, P. H., Xu, J., Skaar, T. C., Philips, S., Rae, J. M., Azzouz, F., Li, L., Hayden, J., Henry, N. L., Nguyen, A. T., Stearns, V. & 3 others, Hayes, D. F., Flockhart, D. A. & Oesterreich, S., 2012, In : Molecular Endocrinology. 26, 2, p. 220-227 8 p.

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

Assessing the genetic risk for alcohol use disorders

Foroud, T. & Phillips, T. J., Dec 1 2011, In : Alcohol Research and Health. 34, 3, p. 266-273 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

on behalf of the ARTFL/LEFFTDS consortium, Jan 1 2020, In : Alzheimer's and Dementia. 16, 1, p. 11-21 11 p.

Research output: Contribution to journalArticle

Open Access