• 714 Citations
  • 13 h-Index
20042019

Research output per year

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Publications

  • 714 Citations
  • 13 h-Index
  • 16 Article
  • 2 Review article
  • 1 Short survey
2019

Epigenetic modulation of β cells by interferon-α via PNPT1/mir-26a/TET2 triggers autoimmune diabetes

Stefan-Lifshitz, M., Karakose, E., Cui, L., Ettela, A., Yi, Z., Zhang, W. & Tomer, Y., Mar 7 2019, In : JCI Insight. 4, 5

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
2017

CD40 signaling in graves disease is mediated through canonical and noncanonical thyroidal nuclear factor kB activation

Lee, H. J., Lombardi, A., Stefan, M., Li, C. W., Inabnet, W. B., Owen, R. P., Concepcion, E. & Tomer, Y., Feb 1 2017, In : Endocrinology. 158, 2, p. 410-418 9 p.

Research output: Contribution to journalArticle

9 Scopus citations

Genetics of thyroid-stimulating hormone receptor-Relevance for autoimmune thyroid disease

Stefan, M. & Faustino, L. C., Apr 3 2017, In : Frontiers in Endocrinology. 8, APR, 57.

Research output: Contribution to journalShort survey

8 Scopus citations

Hepatitis C Virus E2 protein induces upregulation of IL-8 pathways and production of heat shock proteins in human thyroid cells

Hammerstad, S. S., Stefan, M., Blackard, J., Owen, R. P., Lee, H. J., Concepcion, E., Yi, Z., Zhang, W. & Tomer, Y., Feb 1 2017, In : Journal of Clinical Endocrinology and Metabolism. 102, 2, p. 689-697 9 p.

Research output: Contribution to journalReview article

7 Scopus citations
2015

Immunogenetics of autoimmune thyroid diseases: A comprehensive review

Lee, H. J., Li, C. W., Hammerstad, S. S., Stefan, M. & Tomer, Y., Nov 1 2015, In : Journal of Autoimmunity. 64, p. 82-90 9 p., 1811.

Research output: Contribution to journalArticle

105 Scopus citations
2014

DNA methylation profiles in type 1 diabetes twins point to strong epigenetic effects on etiology

Stefan, M., Zhang, W., Concepcion, E., Yi, Z. & Tomer, Y., May 2014, In : Journal of Autoimmunity. 50, p. 33-37 5 p.

Research output: Contribution to journalArticle

90 Scopus citations

Genetic-epigenetic dysregulation of thymic TSH receptor gene expression triggers thyroid autoimmunity

Stefan, M., Wei, C., Lombardi, A., Li, C. W., Concepcion, E. S., Inabnet, W. B., Owen, R., Zhang, W. & Tomer, Y., Aug 26 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 34, p. 12562-12567 6 p.

Research output: Contribution to journalArticle

53 Scopus citations
2013

Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes

Tomer, Y., Hasham, A., Davies, T. F., Stefan, M., Concepcion, E., Keddache, M. & Greenberg, D. A., Jan 2013, In : Journal of Clinical Endocrinology and Metabolism. 98, 1, p. E144-E152

Research output: Contribution to journalArticle

29 Scopus citations

Genetic analysis of interferon induced thyroiditis (IIT): Evidence for a key role for MHC and apoptosis related genes and pathways

Hasham, A., Zhang, W., Lotay, V., Haggerty, S., Stefan, M., Concepcion, E., Dieterich, D. T. & Tomer, Y., Aug 1 2013, In : Journal of Autoimmunity. 44, p. 61-70 10 p.

Research output: Contribution to journalArticle

12 Scopus citations
2012

Transcriptional and post-transcriptional regulation of spast, the gene most frequently mutated in hereditary spastic paraplegia

Henson, B. J., Zhu, W., Hardaway, K., Wetzel, J. L., Stefan, M., Albers, K. M. & Nicholls, R. D., May 4 2012, In : PloS one. 7, 5, e36505.

Research output: Contribution to journalArticle

12 Scopus citations
2011

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome

Stefan, M., Simmons, R. A., Bertera, S., Trucco, M., Esni, F., Drain, P. & Nicholls, R. D., May 2011, In : American Journal of Physiology - Endocrinology and Metabolism. 300, 5, p. E909-E922

Research output: Contribution to journalArticle

15 Scopus citations

IFN-α mediates the development of autoimmunity both by direct tissue toxicity and through immune cell recruitment mechanisms

Akeno, N., Smith, E. P., Stefan, M., Huber, A. K., Zhang, W., Keddache, M. & Tomer, Y., Apr 15 2011, In : Journal of Immunology. 186, 8, p. 4693-4706 14 p.

Research output: Contribution to journalArticle

42 Scopus citations

Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon α-modulated mechanism

Stefan, M., Jacobson, E. M., Huber, A. K., Greenberg, D. A., Li, C. W., Skrabanek, L., Conception, E., Fadlalla, M., Ho, K. & Tomer, Y., Sep 9 2011, In : Journal of Biological Chemistry. 286, 36, p. 31168-31179 12 p.

Research output: Contribution to journalArticle

44 Scopus citations
2010

Tg.2098 is a major human thyroglobulin T-cell epitope

Menconi, F., Huber, A., Osman, R., Concepcion, E., Jacobson, E. M., Stefan, M., David, C. S. & Tomer, Y., Aug 2010, In : Journal of Autoimmunity. 35, 1, p. 45-51 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

Kishore, S., Khanna, A., Zhang, Z., Hui, J., Balwierz, P. J., Stefan, M., Beach, C., Nicholls, R. D., Zavolan, M. & Stamm, S., Jan 6 2010, In : Human molecular genetics. 19, 7, p. 1153-1164 12 p., ddp585.

Research output: Contribution to journalArticle

179 Scopus citations
2005

A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted PWS loci do not alter genome-wide mRNA levels

Stefan, M., Portis, T., Longnecker, R. & Nicholls, R. D., May 2005, In : Genomics. 85, 5, p. 630-640 11 p.

Research output: Contribution to journalArticle

24 Scopus citations

Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes

Stefan, M., Claiborn, K. C., Stasiek, E., Chai, J. H., Ohta, T., Longnecker, R., Greally, J. M. & Nicholls, R. D., Nov 9 2005, In : BMC Genomics. 6, 157.

Research output: Contribution to journalArticle

13 Scopus citations

Hormonal and metabolic defects in a Prader-Willi syndrome mouse model with neonatal failure to thrive

Stefan, M., Ji, H., Simmons, R. A., Cummings, D. E., Ahima, R. S., Friedman, M. I. & Nicholls, R. D., Oct 2005, In : Endocrinology. 146, 10, p. 4377-4385 9 p.

Research output: Contribution to journalArticle

37 Scopus citations
2004

What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?

Stefan, M. & Nicholls, R. D., Apr 2004, In : Current Diabetes Reports. 4, 2, p. 143-150 8 p.

Research output: Contribution to journalReview article

14 Scopus citations