Medical & Molecular Genetics

Publications

2014

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

Association of cancer history with alzheimer's disease onset and structural brain changes

Alzheimer's Disease Neuroimaging Initiative, Jan 1 2014, In : Frontiers in Physiology. 5, OCT, Article 423.

Research output: Contribution to journalArticle

23 Scopus citations

Association of plasma and cortical amyloid beta is modulated by APOE ε4 status

Swaminathan, S., Risacher, S. L., Yoder, K. K., West, J. D., Shen, L., Kim, S., Inlow, M., Foroud, T., Jagust, W. J., Koeppe, R. A., Mathis, C. A., Shaw, L. M., Trojanowski, J. Q., Soares, H., Aisen, P. S., Petersen, R. C., Weiner, M. W. & Saykin, A. J., Jan 1 2014, In : Alzheimer's and Dementia. 10, 1, p. e9-e18

Research output: Contribution to journalArticle

26 Scopus citations

Blocking the apoE/Aβ interaction ameliorates Aβ-related pathology in APOE ε2 and ε4 targeted replacement Alzheimer model mice

Pankiewicz, J. E., Guridi, M., Kim, J., Asuni, A. A., Sanchez, S., Sullivan, P. M., Holtzman, D. M. & Sadowski, M. J., Jan 27 2014, In : Acta Neuropathologica Communications. 2, 1, 75.

Research output: Contribution to journalArticle

Open Access
33 Scopus citations

Characterizing the heterogeneity of triple-negative breast cancers using microdissected normal ductal epithelium and RNA-sequencing

Radovich, M., Clare, S. E., Atale, R., Pardo, I., Hancock, B. A., Solzak, J. P., Kassem, N., Mathieson, T., Storniolo, A. M. V., Rufenbarger, C., Lillemoe, H. A., Blosser, R. J., Choi, M. R., Sauder, C. A., Doxey, D., Henry, J. E., Hilligoss, E. E., Sakarya, O., Hyland, F. C., Hickenbotham, M. & 7 others, Zhu, J., Glasscock, J., Badve, S., Ivan, M., Liu, Y., Sledge, G. W. & Schneider, B. P., Jan 1 2014, In : Breast Cancer Research and Treatment. 143, 1, p. 57-68 12 p.

Research output: Contribution to journalArticle

18 Scopus citations
20 Scopus citations
22 Scopus citations

Complex Genetics of Alcoholism

Edenberg, H. J. & Foroud, T., Feb 2014, Neurobiology of Alcohol Dependence. Elsevier Inc., p. 539-550 12 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Contribution of environment and genetics to pancreatic cancer susceptibility

Hocevar, B. A., Kamendulis, L. M., Pu, X., Perkins, S. M., Wang, Z. Y., Johnston, E. L., DeWitt, J. M., Li, L., Loehrer, P. J., Klaunig, J. E. & Chiorean, E. G., Mar 20 2014, In : PloS one. 9, 3, e90052.

Research output: Contribution to journalArticle

10 Scopus citations

Correcting imbalanced reads coverage in bacterial transcriptome sequencing with extreme deep coverage

Zhang, X., Gangaiah, D., Munson, R. S., Spinola, S. M. & Liu, Y., 2014, In : International Journal of Computational Biology and Drug Design. 7, 2-3, p. 195-213 19 p.

Research output: Contribution to journalArticle

Coupling fibroblast growth factor 23 production and cleavage: Iron deficiency, rickets, and kidney disease

Wolf, M. & White, K. E., Jul 2014, In : Current Opinion in Nephrology and Hypertension. 23, 4, p. 411-419 9 p.

Research output: Contribution to journalReview article

90 Scopus citations

Design and potential of non-integrating lentiviral vectors

Shaw, A. & Cornetta, K., Mar 1 2014, In : Biomedicines. 2, 1, p. 14-35 22 p.

Research output: Contribution to journalReview article

19 Scopus citations

Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR

Singh, S., Zhang, A., Dlouhy, S. & Bai, S., Jan 1 2014, In : Frontiers in Genetics. 5, APR, Article 94.

Research output: Contribution to journalArticle

8 Scopus citations

Development and evaluation of quality metrics for bioinformatics analysis of viral insertion site data generated using high throughput sequencing

Gao, H., Hawkins, T., Jasti, A., Chen, Y. H., Mockaitis, K., Dinauer, M. & Cornetta, K., Jun 1 2014, In : Biomedicines. 2, 2, p. 195-210 16 p.

Research output: Contribution to journalArticle

Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis

Tagliabracci, V. S., Engel, J. L., Wiley, S. E., Xiao, J., Gonzalez, D. J., Appaiah, H. N., Koller, A., Nizet, V., White, K. E. & Dixon, J. E., Apr 15 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 15, p. 5520-5525 6 p.

Research output: Contribution to journalArticle

142 Scopus citations

Epigenetic targeting of ovarian cancer stem cells

Wang, Y., Cardenas, H., Fang, F., Condello, S., Taverna, P., Segar, M., Liu, Y., Nephew, K. P. & Matei, D., Sep 1 2014, In : Cancer Research. 74, 17, p. 4922-4936 15 p.

Research output: Contribution to journalArticle

78 Scopus citations

Estrogen induces global reorganization of chromatin structure In human breast cancer cells

Mourad, R., Hsu, P. Y., Juan, L., Shen, C., Koneru, P., Lin, H., Liu, Y., Nephew, K., Huang, T. H. & Li, L., Dec 3 2014, In : PloS one. 9, 12, e113354.

Research output: Contribution to journalArticle

26 Scopus citations

Ethanol treatment of lymphoblastoid cell lines from alcoholics and non-alcoholics causes many subtle changes in gene expression

McClintick, J. N., Brooks, A. I., Deng, L., Liang, L., Wang, J. C., Kapoor, M., Xuei, X., Foroud, T., Tischfield, J. A. & Edenberg, H. J., Sep 1 2014, In : Alcohol. 48, 6, p. 603-610 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Examination of the genetic basis for sexual dimorphism in the Aedes aegypti (dengue vector mosquito) pupal brain

Tomchaney, M., Mysore, K., Sun, L., Li, P., Emrich, S. J., Severson, D. W. & Duman-Scheel, M., Oct 1 2014, In : Biology of Sex Differences. 5, 1, 10.

Research output: Contribution to journalReview article

10 Scopus citations

Family-Based Association Analysis of Alcohol Dependence Criteria and Severity

Wetherill, L., Kapoor, M., Agrawal, A., Bucholz, K., Koller, D., Bertelsen, S. E., Le, N., Wang, J. C., Almasy, L., Hesselbrock, V., Kramer, J., Nurnberger, J. I., Schuckit, M., Tischfield, J. A., Xuei, X., Porjesz, B., Edenberg, H. J., Goate, A. M. & Foroud, T., Feb 2014, In : Alcoholism: Clinical and Experimental Research. 38, 2, p. 354-366 13 p.

Research output: Contribution to journalArticle

16 Scopus citations

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

Zhong, X., Gutierrez, C., Xue, T., Hampton, C., Vergara, M. N., Cao, L. H., Peters, A., Park, T. S., Zambidis, E. T., Meyer, J. S., Gamm, D. M., Yau, K. W. & Canto-Soler, M. V., Jun 10 2014, In : Nature communications. 5, 4047.

Research output: Contribution to journalArticle

Open Access
315 Scopus citations

Gene therapy: Vector technology and clinical applications

Tang, S. & Cornetta, K., Mar 1 2014, Molecular Genetic Pathology: Second Edition. Springer New York, p. 399-412 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Genetic analysis of quantitative phenotypes in AD and MCI: Imaging, cognition and biomarkers

Shen, L., Thompson, P. M., Potkin, S. G., Bertram, L., Farrer, L. A., Foroud, T. M., Green, R. C., Hu, X., Huentelman, M. J., Kim, S., Kauwe, J. S. K., Li, Q., Liu, E., Macciardi, F., Moore, J. H., Munsie, L., Nho, K., Ramanan, V. K., Risacher, S. L., Stone, D. J. & 4 others, Swaminathan, S., Toga, A. W., Weiner, M. W. & Saykin, A. J., Jun 2014, In : Brain Imaging and Behavior. 8, 2, p. 183-207 25 p.

Research output: Contribution to journalArticle

84 Scopus citations

Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy

Horsting, J. M. H., Dlouhy, S. R., Hanson, K., Quaid, K., Bai, S. & Hines, K. A., Jun 2014, In : Journal of Genetic Counseling. 23, 3, p. 377-400 24 p.

Research output: Contribution to journalArticle

28 Scopus citations

Genetic polymorphism of cytochrome P450 4F2, vitamin E level and histological response in adults and children with nonalcoholic fatty liver disease who participated in PIVENS and TONIC clinical trials

Athinarayanan, S., Wei, R., Zhang, M., Bai, S., Traber, M. G., Yates, K., Cummings, O. W., Molleston, J., Liu, W. & Chalasani, N., Apr 23 2014, In : PLoS ONE. 9, 4, e95366.

Research output: Contribution to journalArticle

17 Scopus citations

Genetic rescue of glycosylation-deficient FGF23 in the GALNT3 knockout mouse

Ichikawa, S., Gray, A. K., Padgett, L. R., Allen, M. R., Clinkenbeard, E. L., Sarpa, N. M., White, K. E. & Econs, M. J., Oct 1 2014, In : Endocrinology. 155, 10, p. 3891-3898 8 p.

Research output: Contribution to journalArticle

6 Scopus citations

Genetics of alcoholism

Edenberg, H. & Foroud, T., 2014, In : Handbook of Clinical Neurology. 125, p. 561-571 11 p.

Research output: Contribution to journalArticle

26 Scopus citations

Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100

Schneider, B. P., Li, L., Shen, F., Miller, K. D., Radovich, M., O'Neill, A., Gray, R. J., Lane, D., Flockhart, D. A., Jiang, G., Wang, Z., Lai, D., Koller, D., Pratt, J. H., Dang, C. T., Northfelt, D., Perez, E. A., Shenkier, T., Cobleigh, M., Smith, M. L. & 7 others, Railey, E., Partridge, A., Gralow, J., Sparano, J., Davidson, N. E., Foroud, T. & Sledge, G. W., Sep 9 2014, In : British Journal of Cancer. 111, 6, p. 1241-1248 8 p.

Research output: Contribution to journalArticle

25 Scopus citations

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

Jorgez, C. J., Rosenfeld, J. A., Wilken, N. R., Vangapandu, H. V., Sahin, A., Pham, D., Carvalho, C. M. B., Bandholz, A., Miller, A., Weaver, D. D., Burton, B., Babu, D., Bamforth, J. S., Wilks, T., Flynn, D. P., Roeder, E., Patel, A., Cheung, S. W., Lupski, J. R. & Lamb, D. J., Sep 2014, In : PloS one. 9, 9, e107028.

Research output: Contribution to journalArticle

18 Scopus citations

Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7

Foroud, T., Lai, D., Koller, D., Van't Hof, F., Kurki, M. I., Anderson, C. S., Brown, R. D., Connolly, E. S., Eriksson, J. G., Flaherty, M., Fornage, M., Von Und Zu Fraunberg, M., Gaál, E. I., Laakso, A., Hernesniemi, J., Huston, J., Jääskeläinen, J. E., Kiemeney, L. A., Kivisaari, R., Kleindorfer, D. & 20 others, Ko, N., Lehto, H., Mackey, J., Meissner, I., Moomaw, C. J., Mosley, T. H., Moskala, M., Niemelä, M., Palotie, A., Pera, J., Rinkel, G., Ripke, S., Rouleau, G., Ruigrok, Y., Sauerbeck, L., Słowik, A., Vermeulen, S. H., Woo, D., Worrall, B. B. & Broderick, J., 2014, In : Stroke. 45, 11, p. 3194-3199 6 p.

Research output: Contribution to journalArticle

29 Scopus citations

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

The ReproGen Consortium, The Early Growth Genetics (EGG) Consortium, The Early Growth Genetics (EGG) Consortium, The ReproGen Consortium & The GIANT Consortium, Jan 1 2014, In : Human molecular genetics. 23, 16, p. 4452-4464 13 p.

Research output: Contribution to journalArticle

Open Access
47 Scopus citations

Genome-Wide Discovery of Drug-Dependent Human Liver Regulatory Elements

Smith, R. P., Eckalbar, W. L., Morrissey, K. M., Luizon, M. R., Hoffmann, T. J., Sun, X., Jones, S. L., Force Aldred, S., Ramamoorthy, A., Desta, Z., Liu, Y., Skaar, T. C., Trinklein, N. D., Giacomini, K. M. & Ahituv, N., Oct 1 2014, In : PLoS Genetics. 10, 10

Research output: Contribution to journalArticle

19 Scopus citations

Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families

Kapoor, M., Wang, J. C., Wetherill, L., Le, N., Bertelsen, S., Hinrichs, A. L., Budde, J., Agrawal, A., Almasy, L., Bucholz, K., Dick, D. M., Harari, O., Xiaoling, X., Hesselbrock, V., Kramer, J., Nurnberger, J. I., Rice, J., Schuckit, M., Tischfield, J., Porjesz, B. & 4 others, Edenberg, H. J., Bierut, L., Foroud, T. & Goate, A., Sep 1 2014, In : Drug and Alcohol Dependence. 142, p. 56-62 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Haemophilus ducreyi Hfq contributes to virulence gene regulation as cells enter stationary phase

Gangaiah, D., Labandeira-Rey, M., Zhang, X., Fortney, K. R., Ellinger, S., Zwickl, B., Baker, B., Liu, Y., Janowicz, D. M., Katz, B. P., Brautigam, C. A., Munson, R. S., Hansen, E. J. & Spinola, S. M., Feb 11 2014, In : mBio. 5, 1, e01081-13.

Research output: Contribution to journalArticle

8 Scopus citations

Haemophilus ducreyi RpoE and CpxRA appear To play distinct yet complementary roles in regulation of envelope-related functions

Gangaiah, D., Zhang, X., Baker, B., Fortney, K. R., Liu, Y., Munson, R. S. & Spinola, S. M., Jan 1 2014, In : Journal of bacteriology. 196, 23, p. 4012-4025 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

High-resolution genome screen for bone mineral density in heterogeneous stock rat

Alam, I., Koller, D. L., Cañete, T., Blázquez, G., López-Aumatell, R., Martínez-Membrives, E., Díaz-Morán, S., Tobeña, A., Fernández-Teruel, A., Stridh, P., Diez, M., Olsson, T., Johannesson, M., Baud, A., Econs, M. J. & Foroud, T., Jul 2014, In : Journal of Bone and Mineral Research. 29, 7, p. 1619-1626 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae

Santana, E. A., Harrison, A., Zhang, X., Baker, B. D., Kelly, B. J., White, P., Liu, Y. & Munson, R. S., Aug 26 2014, In : PloS one. 9, 8, e105644.

Research output: Contribution to journalArticle

10 Scopus citations

Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms

Finer, G., Price, H. E., Shore, R. M., White, K. E. & Langman, C. B., Jun 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1545-1549 5 p.

Research output: Contribution to journalArticle

28 Scopus citations

Hypophosphatemic rickets: Revealing novel control points for phosphate homeostasis

White, K. E., Hum, J. M. & Econs, M. J., Sep 2014, In : Current osteoporosis reports. 12, 3, p. 252-262 11 p.

Research output: Contribution to journalReview article

23 Scopus citations

Identification of genes and pathways involved in kidney renal clear cell carcinoma

Yang, W., Yoshigoe, K., Qin, X., Liu, J. S., Yang, J. Y., Niemierko, A., Deng, Y., Liu, Y., Dunker, A. K., Chen, Z., Wang, L., Xu, D., Arabnia, H. R., Tong, W. & Yang, M. Q., Dec 16 2014, In : BMC bioinformatics. 15, 17, S2.

Research output: Contribution to journalArticle

33 Scopus citations

Identification of pathways for bipolar disorder: A meta-analysis

Psychiatric Genomics Consortium Bipolar Group, Jun 1 2014, In : JAMA psychiatry. 71, 6, p. 657-664 8 p.

Research output: Contribution to journalArticle

122 Scopus citations

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation

Zhang, X., Lin, H., Zhao, H., Hao, Y., Mort, M., Cooper, D. N., Zhou, Y. & Liu, Y., 2014, In : Human molecular genetics. 23, 11, p. 3024-3034 11 p., ddu019.

Research output: Contribution to journalArticle

20 Scopus citations

Implications of genomic signatures in the differential vulnerability to fetal alcohol exposure in C57BL/6 and DBA/2 mice

Lossie, A. C., Muir, W. M., Lo, C. L., Timm, F., Liu, Y., Gray, W. & Zhou, F. C., Jan 1 2014, In : Frontiers in Genetics. 5, JUN, 173.

Research output: Contribution to journalArticle

8 Scopus citations

Increased understanding of the impact of environmental exposures on the epigenome

O'Hagan, H. M. & Tang, W. Y., Apr 1 2014, In : Environmental and Molecular Mutagenesis. 55, 3, p. 151-154 4 p.

Research output: Contribution to journalEditorial

2 Scopus citations

Loss of MITF expression during human embryonic stem cell differentiation disrupts retinal pigment epithelium development and optic vesicle cell proliferation

Capowski, E. E., Simonett, J. M., Clark, E. M., Wright, L. S., Howden, S. E., Wallace, K. A., Petelinsek, A. M., Pinilla, I., Phillips, M. J., Meyer, J. S., Schneider, B. L., Thomson, J. A. & Gamm, D. M., Dec 1 2014, In : Human molecular genetics. 23, 23, p. 6332-6344 13 p.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations

Luminal subtypes predict improved survival following central nervous system metastasis in patients with surgically managed metastatic breast carcinoma

Wiens, A. L., Martin, S. E., Bertsch, E. C., Vance, G. H., Stohler, R. A., Cheng, L., Badve, S. & Hattab, E. M., Feb 1 2014, In : Archives of Pathology and Laboratory Medicine. 138, 2, p. 175-181 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants

Alcalay, R. N., Aasly, J., Berg, D., Bressman, S., Brice, A., Brockmann, K., Chan, P., Clark, L., Cormier, F., Corvol, J. C., Durr, A., Facheris, M., Farrer, M., Foroud, T. M., Gasser, T., Giladi, N., Halter, C., Lang, A., Langston, J. W., Marras, C. & 15 others, Marti-Masso, J. F., Ruiz Martinez, J., Mejia-Santana, H., Mirelman, A., Pont-Sunyer, C., Orr-Urtreger, A., Raymond, D., Saunders-Pullman, R., Schüle, B., Tanner, C., Tolosa, E., Urkowitz, A., Vilas, D., Wise, A. & Marder, K., Aug 2014, In : Genetics in Medicine. 16, 8, p. 644-645 2 p.

Research output: Contribution to journalLetter

6 Scopus citations

Mining massive SNP data for identifying associated SNPs and uncovering gene relationships

Webb, A., Albin, A., Ye, Z., Rastegar-Mojarad, M., Huang, K., Parvin, J., Sadee, W., Li, L., Lin, S. & Xiang, Y., Sep 20 2014, ACM BCB 2014 - 5th ACM Conference on Bioinformatics, Computational Biology, and Health Informatics. Association for Computing Machinery, Inc, p. 304-313 10 p. (ACM BCB 2014 - 5th ACM Conference on Bioinformatics, Computational Biology, and Health Informatics).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5

McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M. I., Aylsworth, A. S., Bitoun, P., Carey, J. C., Clericuzio, C. L., Crow, Y. J., Curry, C. J., Devriendt, K., Everman, D. B., Fryer, A., Gibson, K., Giovannucci Uzielli, M. L., Graham, J. M., Hall, J. G. & 25 others, Hecht, J. T., Heidenreich, R. A., Hurst, J. A., Irani, S., Krapels, I. P. C., Leroy, J. G., Mowat, D., Plant, G. T., Robertson, S. P., Schorry, E. K., Scott, R. H., Seaver, L. H., Sherr, E., Splitt, M., Stewart, H., Stumpel, C., Temel, S. G., Weaver, D. D., Whiteford, M., Williams, M. S., Tabor, H. K., Smith, J. D., Shendure, J., Nickerson, D. A. & Bamshad, M. J., May 1 2014, In : American Journal of Human Genetics. 94, 5, p. 734-744 11 p.

Research output: Contribution to journalArticle

83 Scopus citations

Neonatal Iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR Mice

Clinkenbeard, E. L., Farrow, E. G., Summers, L. J., Cass, T. A., Roberts, J. L., Bayt, C. A., Lahm, T., Albrecht, M., Allen, M. R., Peacock, M. & White, K. E., Feb 1 2014, In : Journal of Bone and Mineral Research. 29, 2, p. 361-369 9 p.

Research output: Contribution to journalArticle

66 Scopus citations