Medical & Molecular Genetics

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1H NMR metabolomics study of age profiling in children

Gu, H., Pan, Z., Xi, B., Hainline, B. E., Shanaiah, N., Asiago, V., Gowda, G. A. N. & Raftery, D., Dec 2 2009, In : NMR in Biomedicine. 22, 8, p. 826-833 8 p.

Research output: Contribution to journalArticle

47 Scopus citations

2014 Report on the milestones for the us national plan to address Alzheimer's disease

Fargo, K. N., Aisen, P., Albert, M., Au, R., Corrada, M. M., Dekosky, S., Drachman, D., Fillit, H., Gitlin, L., Haas, M., Herrup, K., Kawas, C., Khachaturian, A. S., Khachaturian, Z. S., Klunk, W., Knopman, D., Kukull, W. A., Lamb, B., Logsdon, R. G., Maruff, P. & 20 others, Mesulam, M., Mobley, W., Mohs, R., Morgan, D., Nixon, R. A., Paul, S., Petersen, R., Plassman, B., Potter, W., Reiman, E., Reisberg, B., Sano, M., Schindler, R., Schneider, L. S., Snyder, P. J., Sperling, R. A., Yaffe, K., Bain, L. J., Thies, W. H. & Carrillo, M. C., Oct 1 2014, In : Alzheimer's and Dementia. 10, 5, p. S430-S452

Research output: Contribution to journalArticle

43 Scopus citations

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

2K09 and thereafter: The coming era of integrative bioinformatics, systems biology and intelligent computing for functional genomics and personalized medicine research

Yang, J. Y., Niemierko, A., Bajcsy, R., Xu, D., Athey, B. D., Zhang, A., Ersoy, O. K., Li, G. Z., Borodovsky, M., Zhang, J. C., Arabnia, H. R., Deng, Y., Dunker, A. K., Liu, Y. & Ghafoor, A., Nov 29 2010, In : BMC genomics. 11, SUPPL. 3, I1.

Research output: Contribution to journalArticle

5 Scopus citations

49,XXXXY: A distinct phenotype. Three new cases and review

Peet, J., Weaver, D. D. & Vance, G. H., Jan 1 1998, In : Journal of Medical Genetics. 35, 5, p. 420-424 5 p.

Research output: Contribution to journalArticle

Open Access
66 Scopus citations

A 37-year-old man with a pleural mass

Eichelberger, L., Jones, T. D., Vance, G. & Saxena, R., Aug 1 2005, In : Archives of Pathology and Laboratory Medicine. 129, 8, p. 1063-1064 2 p.

Research output: Contribution to journalArticle

6 Scopus citations

Aarskog Syndrome: New Findings and Genetic Analysis

Escobar, V. & Weaver, D. D., Dec 8 1978, In : JAMA: The Journal of the American Medical Association. 240, 24, p. 2638-2641 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

A Bayesian meta-analysis on published sample mean and variance pharmacokinetic data with application to drug-drug interaction prediction

Yu, M., Kim, S., Wang, Z., Hall, S. & Li, L., Nov 1 2008, In : Journal of biopharmaceutical statistics. 18, 6, p. 1063-1083 21 p.

Research output: Contribution to journalArticle

7 Scopus citations

Aberrant expression of CARM1, a transcriptional coactivator of androgen receptor, in the development of prostate carcinoma and androgen-independent status

Hong, H., Kao, C., Jeng, M. H., Eble, J. N., Koch, M. O., Gardner, T. A., Zhang, S., Li, L., Pan, C. X., Hu, Z., MacLennan, G. T. & Cheng, L., Jul 1 2004, In : Cancer. 101, 1, p. 83-89 7 p.

Research output: Contribution to journalArticle

136 Scopus citations

Aberrant Expression of the Myeloid Zinc Finger Gene, MZF-1, Is Oncogenic

Hromas, R., Morris, J., Cornetta, K., Berebitsky, D., Davidson, A., Sha, M., Sledge, G. & Rauscher, F., Aug 15 1995, In : Cancer Research. 55, 16, p. 3610-3614 5 p.

Research output: Contribution to journalArticle

51 Scopus citations

Aberrant reduction of telomere repetitive sequences in plasma cell-free DNA for early breast cancer detection

Wu, X. & Tanaka, H., Jan 1 2015, In : Oncotarget. 6, 30, p. 29795-29807 13 p.

Research output: Contribution to journalArticle

7 Scopus citations
11 Scopus citations

Ablation of TNF-α receptors influences mesenchymal stem cell-mediated cardiac protection against ischemia

Tan, J., Weil, B. R., Abarbanell, A. M., Wang, Y., Herrmann, J. L., Dake, M. L. & Meldrum, D. R., Sep 1 2010, In : Shock. 34, 3, p. 236-242 7 p.

Research output: Contribution to journalArticle

17 Scopus citations

Abnormal Error-Related Antisaccade Activation in Premanifest and Early Manifest Huntington Disease

Rupp, J., Dzemidzic, M., Blekher, T., Bragulat, V., West, J., Jackson, J., Hui, S., Wojcieszek, J., Saykin, A. J., Kareken, D. & Foroud, T., May 1 2011, In : Neuropsychology. 25, 3, p. 306-318 13 p.

Research output: Contribution to journalArticle

9 Scopus citations

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

Nuytemans, K., Inchausti, V., Beecham, G. W., Wang, L., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. Y., Mash, D. C., Frosch, M. P., Foroud, T. M., Honig, L. S., Montine, T. J., Dawson, T. M., Martin, E. R., Scott, W. K. & Vance, J. M., May 2014, In : Movement Disorders. 29, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

Absence of Replication-Competent Lentivirus in the Clinic: Analysis of Infused T Cell Products

Cornetta, K., Duffy, L., Turtle, C. J., Jensen, M., Forman, S., Binder-Scholl, G., Fry, T., Chew, A., Maloney, D. G. & June, C. H., Jan 3 2018, In : Molecular Therapy. 26, 1, p. 280-288 9 p.

Research output: Contribution to journalArticle

32 Scopus citations

A C. elegans Ror receptor tyresine kinase regulates cell motility and asymmetric cell division

Forrester, W. C., Dell, M., Perens, E. & Garriga, G., Aug 26 1999, In : Nature. 400, 6747, p. 881-885 5 p.

Research output: Contribution to journalArticle

126 Scopus citations

A cancer-associated PCNA expressed in breast cancer has implications as a potential biomarker

Malkas, L. H., Herbert, B. S., Abdel-Aziz, W., Dobrolecki, L. E., Liu, Y., Agarwal, B., Hoelz, D., Badve, S., Schnaper, L., Arnold, R. J., Mechref, Y., Novotny, M. V., Loehrer, P., Goulet, R. J. & Mickey, R. J., Dec 19 2006, In : Proceedings of the National Academy of Sciences of the United States of America. 103, 51, p. 19472-19477 6 p.

Research output: Contribution to journalArticle

83 Scopus citations

A cancer stem cell model as the point of origin of cancer-associated fibroblasts in tumor microenvironment

Nair, N., Calle, A. S., Zahra, M. H., Prieto-Vila, M., Oo, A. K. K., Hurley, L., Vaidyanath, A., Seno, A., Masuda, J., Iwasaki, Y., Tanaka, H., Kasai, T. & Seno, M., Dec 1 2017, In : Scientific reports. 7, 1, 6838.

Research output: Contribution to journalArticle

37 Scopus citations

A case of de novo partial tetrasomy of distal 6p and review of the literature

Stohler, R., Kucharski, E., Farrow, E., Torres-Martinez, W., Delk, P., Thurston, V. C. & Vance, G. H., Sep 1 2007, In : American Journal of Medical Genetics, Part A. 143, 17, p. 1978-1983 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

Dumitrescu, C. E., Kelly, M. H., Khosravi, A., Hart, T. C., Brahim, J., White, K. E., Farrow, E. G., Nathan, M. H., Murphey, M. D. & Collins, M. T., Jul 1 2009, In : Osteoporosis International. 20, 7, p. 1273-1278 6 p.

Research output: Contribution to journalArticle

33 Scopus citations

A case of multiple congenital anomalies including unusual ear nodules and finger contractures: A new genetic syndrome?

Davis, M. E., Stevens, A. K. & Weaver, D. D., Oct 1 2012, In : Clinical Dysmorphology. 21, 4, p. 218-221 4 p.

Research output: Contribution to journalArticle

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Roberts, J., Torres-Martinez, W., Farrow, E., Stevens, A., Delk, P., White, K. E. & Weaver, D. D., Feb 1 2014, In : American Journal of Medical Genetics, Part A. 164, 2, p. 287-290 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

A case with mosaic di-, tetra-, and octacentric ring Y chromosomes

Henegariu, O., Pescovitz, O. H., Vance, G. H., Verbrugge, J. & Heerema, N. A., Sep 5 1997, In : American journal of medical genetics. 71, 4, p. 426-429 4 p.

Research output: Contribution to journalArticle

19 Scopus citations

Accurate single-day titration of adenovirus vectors based on equivalence of protein VII nuclear dots and infectious particles

Walkiewicz, M. P., Morral, N. & Engel, D. A., Aug 1 2009, In : Journal of Virological Methods. 159, 2, p. 251-258 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

A cell cycle alteration precedes apoptosis of granule cell precursors in the weaver mouse cerebellum

Migheli, A., Piva, R., Casolino, S., Atzori, C., Dlouhy, S. R. & Ghetti, B., Aug 1999, In : American Journal of Pathology. 155, 2, p. 365-373 9 p.

Research output: Contribution to journalArticle

48 Scopus citations

A centrosome clustering protein, KIFC1, predicts aggressive disease course in serous ovarian adenocarcinomas

Mittal, K., Choi, D. H., Klimov, S., Pawar, S., Kaur, R., Mitra, A. K., Gupta, M. V., Sams, R., Cantuaria, G., Rida, P. C. G. & Aneja, R., Mar 18 2016, In : Journal of Ovarian Research. 9, 1, 224.

Research output: Contribution to journalArticle

22 Scopus citations

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Schlade-Bartusiak, K., Macintyre, G., Zunich, J. & Cox, D. W., Jan 1 2008, In : American Journal of Medical Genetics, Part A. 146, 1, p. 117-123 7 p.

Research output: Contribution to journalArticle

12 Scopus citations

A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly

Ho, A. J., Stein, J. L., Hua, X., Lee, S., Hibar, D. P., Leow, A. D., Dinov, I. D., Toga, A. W., Saykin, A. J., Shen, L., Foroud, T., Pankratz, N., Huentelman, M. J., Craig, D. W., Gerber, J. D., Allen, A. N., Corneveaux, J. J., Stephan, D. A., DeCarli, C. S., DeChairo, B. M. & 8 others, Potkin, S. G., Jack, C. R., Weiner, M. W., Raji, C. A., Lopez, O. L., Becker, J. T., Carmichael, O. T. & Thompson, P. M., May 4 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, 18, p. 8404-8409 6 p.

Research output: Contribution to journalArticle

176 Scopus citations

A conditionally replicative, Wnt/Β-catenin pathway-based adenovirus therapy for anaplastic thyroid cancer

Abbosh, P. H., Li, X., Li, L., Gardner, T. A., Kao, C. & Nephew, K. P., Apr 1 2007, In : Cancer gene therapy. 14, 4, p. 399-408 10 p.

Research output: Contribution to journalArticle

14 Scopus citations

A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework

Schizophrenia and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, Jun 25 2018, In : BMC genomics. 19, 1, 494.

Research output: Contribution to journalArticle

3 Scopus citations

A counseling guide to the Martin-Bell syndrome.

Weaver, D. D. & Sherman, S. L., Jan 1987, In : American journal of medical genetics. 26, 1, p. 39-44 6 p.

Research output: Contribution to journalArticle

4 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

42 Scopus citations

Activated protein C blocks p53-mediated apoptosis in ischemic human brain endothelium and is neuroprotective

Cheng, T., Liu, D., Griffin, J. H., Fernández, J. A., Castellino, F., Rosen, E. D., Fukudome, K. & Zlokovic, B. V., Mar 1 2003, In : Nature Medicine. 9, 3, p. 338-342 5 p.

Research output: Contribution to journalArticle

486 Scopus citations

Activation of CpxRA in Haemophilus ducreyi primarily inhibits the expression of Its targets, including major virulence determinants

Gangaiah, D., Zhang, X., Fortney, K. R., Baker, B., Liu, Y., Munson, R. S. & Spinola, S. M., Aug 1 2013, In : Journal of Bacteriology. 195, 15, p. 3486-3502 17 p.

Research output: Contribution to journalArticle

26 Scopus citations

Active PSF shaping and adaptive optics enable volumetric localization microscopy through brain sections

Mlodzianoski, M. J., Cheng-Hathaway, P. J., Bemiller, S. M., McCray, T. J., Liu, S., Miller, D. A., Lamb, B. T., Landreth, G. E. & Huang, F., Aug 1 2018, In : Nature Methods. 15, 8, p. 583-586 4 p.

Research output: Contribution to journalArticle

16 Scopus citations

Acute graft-versus-host disease of the lung after liver transplantation

Knox, K. S., Behnia, M., Smith, L. R., Vance, G. H., Busk, M., Cummings, O. W., Kwo, P. Y. & Wilkes, D. S., Oct 1 2002, In : Liver Transplantation. 8, 10, p. 968-971 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Acute panmyelosis with myelofibrosis: An entity distinct from acute megakaryoblastic leukemia

Orazi, A., O'Malley, D. P., Jiang, J., Vance, G. H., Thomas, J., Czader, M., Fang, W., An, C. & Banks, P. M., May 1 2005, In : Modern Pathology. 18, 5, p. 603-614 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

Acute postischemic treatment with estrogen receptor-α agonist or estrogen receptor-β agonist improves myocardial recovery

Vornehm, N. D., Wang, M., Abarbanell, A., Herrmann, J., Weil, B., Tan, J., Wang, Y., Kelly, M. & Meldrum, D. R., Aug 1 2009, In : Surgery. 146, 2, p. 145-154 10 p.

Research output: Contribution to journalArticle

34 Scopus citations
13 Scopus citations

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., Jan 1 2000, In : American Journal of Human Genetics. 67, 1, p. 14-22 9 p.

Research output: Contribution to journalArticle

38 Scopus citations

A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with aibright hereditary osteodystrophy

Yu, S., Yu, D., Hainline, B. E., Brener, J. L., Wilson, K., Wilson, L. C., Oude-luttikhuls, M., Trembath, R. C. & Weinstein, L. S., Oct 1 1995, In : Human molecular genetics. 4, 10, p. 2001-2002 2 p.

Research output: Contribution to journalArticle

56 Scopus citations

ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry

Bierut, L. J., Goate, A. M., Breslau, N., Johnson, E. O., Bertelsen, S., Fox, L., Agrawal, A., Bucholz, K. K., Grucza, R., Hesselbrock, V., Kramer, J., Kuperman, S., Nurnberger, J., Porjesz, B., Saccone, N. L., Schuckit, M., Tischfield, J., Wang, J. C., Foroud, T., Rice, J. P. & 1 others, Edenberg, H. J., Apr 1 2012, In : Molecular Psychiatry. 17, 4, p. 445-450 6 p.

Research output: Contribution to journalArticle

127 Scopus citations

Adherence and Tolerability of Alzheimer's Disease Medications: A Pragmatic Randomized Trial

Campbell, N. L., Perkins, A. J., Gao, S., Skaar, T. C., Li, L., Hendrie, H. C., Fowler, N., Callahan, C. M. & Boustani, M. A., Jul 2017, In : Journal of the American Geriatrics Society. 65, 7, p. 1497-1504 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

Lah, M., Niranjan, T., Srikanth, S., Holloway, L., Schwartz, C. E., Wang, T. & Weaver, D. D., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 881-890 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Adoptive transfer of MART-1 T-cell receptor transgenic lymphocytes and dendritic cell vaccination in patients with metastatic melanoma

Chodon, T., Comin-Anduix, B., Chmielowski, B., Koya, R. C., Wu, Z., Auerbach, M., Ng, C., Avramis, E., Seja, E., Villanueva, A., McCannel, T. A., Ishiyama, A., Czernin, J., Radu, C. G., Wang, X., Gjertson, D. W., Cochran, A. J., Cornetta, K., Wong, D. J. L., Kaplan-Lefko, P. & 14 others, Hamid, O., Samlowski, W., Cohen, P. A., Daniels, G. A., Mukherji, B., Yang, L., Zack, J. A., Kohn, D. B., Heath, J. R., Glaspy, J. A., Witte, O. N., Baltimore, D., Economou, J. S. & Ribas, A., May 1 2014, In : Clinical Cancer Research. 20, 9, p. 2457-2465 9 p.

Research output: Contribution to journalArticle

104 Scopus citations

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Nance, M. A., Boyadjiev, S., Pratt, V. M., Taylor, S., Hodes, M. E. & Dlouhy, S. R., Nov 1996, In : Neurology. 47, 5, p. 1333-1335 3 p.

Research output: Contribution to journalArticle

32 Scopus citations

Adults with VATER association: Long-term prognosis

Wheeler, P. G. & Weaver, D. D., Oct 15 2005, In : American Journal of Medical Genetics. 138 A, 3, p. 212-217 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

Advancing Systems Biology in the International Conference on Intelligent Biology and Medicine (ICIBM) 2015

Zhao, Z., Liu, Y., Huang, Y., Huang, K. & Ruan, J., Aug 26 2016, In : BMC Systems Biology. 10, 61.

Research output: Contribution to journalArticle

A dynamic time order network for time-series gene expression data analysis

Zhang, P., Mourad, R., Xiang, Y., Huang, K., Huang, T., Nephew, K., Liu, Y. & Li, L., Dec 17 2012, In : BMC Systems Biology. 6, SUPPL3, S9.

Research output: Contribution to journalArticle

5 Scopus citations