Roy E Weiss

Professor

  • 8584 Citations
1976 …2020

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2020

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations

Fu, J., Korwutthikulrangsri, M., Gönç, E. N., Sillers, L., Liao, X. H., Alikaşifoǧlu, A., Kandemir, N., Menucci, M. B., Burman, K. D., Weiss, R. E. & Dumitrescu, A. M., Jan 8 2020, In : Journal of Clinical Endocrinology and Metabolism. 105, 3, dgz169.

Research output: Contribution to journalArticle

Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism

Bruellman, R. J., Watanabe, Y., Ebrhim, R. S., Creech, M. K., Abdullah, M. A., Dumitrescu, A. M., Refetoff, S. & Weiss, R. E., May 1 2020, In : The Journal of clinical endocrinology and metabolism. 105, 5

Research output: Contribution to journalArticle

Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism

Bruellman, R., Watanabe, Y., Shareef, R., Abdullah, M. A., Dumitrescu, A., Strauss, B. S., Refetoff, S. & Weiss, R. E., May 1 2020, In : Thyroid. 30, 5, p. 780-782 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants

Fu, J., Korwutthikulrangsri, M., Ramos-Platt, L., Pierson, T. M., Liao, X. H., Refetoff, S., Weiss, R. E. & Dumitrescu, A. M., Mar 2020, In : Thyroid. 30, 3, p. 463-465 3 p.

Research output: Contribution to journalArticle

2019

Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ

Ebrhim, R. S., Bruellman, R. J., Watanabe, Y., Creech, M. K., Abdullah, M. A., Dumitrescu, A. M., Refetoff, S. & Weiss, R. E., 2019, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families

Watanabe, Y., Bruellman, R. J., Ebrhim, R. S., Abdullah, M. A., Dumitrescu, A. M., Refetoff, S. & Weiss, R. E., Feb 1 2019, In : Thyroid. 29, 2, p. 302-304 3 p.

Research output: Contribution to journalArticle

6 Scopus citations
2018

A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism

Watanabe, Y., Ebrhim, R. S., Abdullah, M. A. & Weiss, R. E., Aug 1 2018, In : Thyroid. 28, 8, p. 1068-1070 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: A case report

Watanabe, Y., Sharwood, E., Goodwin, B., Creech, M. K., Hassan, H. Y., Netea, M. G., Jaeger, M., Dumitrescu, A., Refetoff, S., Huynh, T. & Weiss, R. E., May 2 2018, In : BMC Medical Genetics. 19, 1, 69.

Research output: Contribution to journalArticle

4 Scopus citations
2017

An essential physiological role for MCT8 in bone in male mice

Leitch, V. D., Di Cosmo, C., Liao, X. H., O'Boy, S., Galliford, T. M., Evans, H., Croucher, P. I., Boyde, A., Dumitrescu, A., Weiss, R. E., Refetoff, S., Williams, G. R. & Bassett, J. H. D., Sep 1 2017, In : Endocrinology. 158, 9, p. 3055-3066 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Defects of Thyroid Hormone Synthesis and Action

Hannoush, Z. C. & Weiss, R. E., 2017, (Accepted/In press) In : Endocrinology and Metabolism Clinics of North America.

Research output: Contribution to journalArticle

9 Scopus citations

Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice

Srichomkwun, P., Anselmo, J., Liao, X. H., Hönes, G. S., Moeller, L. C., Alonso-Sampedro, M., Weiss, R. E., Dumitrescu, A. M. & Refetoff, S., Sep 1 2017, In : The Journal of clinical endocrinology and metabolism. 102, 9, p. 3234-3240 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications

Pappa, T., Anselmo, J., Mamanasiri, S., Dumitrescu, A. M., Weiss, R. E. & Refetoff, S., Oct 1 2017, In : The Journal of clinical endocrinology and metabolism. 102, 10, p. 3775-3782 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Understanding transgender men's experiences with and preferences for cervical cancer screening: A rapid assessment survey

Seay, J., Ranck, A., Weiss, R. E., Salgado, C., Fein, L. & Kobetz, E., Aug 1 2017, In : LGBT Health. 4, 4, p. 304-309 6 p.

Research output: Contribution to journalArticle

18 Scopus citations
2016

Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice

Iwayama, H., Liao, X. H., Braun, L., Bárez-López, S., Kaspar, B., Weiss, R. E., Dumitrescu, A. M., Guadaño-Ferraz, A. & Refetoff, S., Sep 1 2016, In : Thyroid. 26, 9, p. 1311-1319 9 p.

Research output: Contribution to journalArticle

17 Scopus citations
2015

A novel mechanism of inherited TBG deficiency: Mutation in a liverspecific enhancer

Ferrara, A. M., Pappa, T., Fu, J., Brown, C. D., Peterson, A., Moeller, L. C., Wyne, K., White, K. P., Pluzhnikov, A., Trubetskoy, V., Nobrega, M., Weiss, R. E., Dumitrescu, A. M. & Refetoff, S., Jan 1 2015, In : Journal of Clinical Endocrinology and Metabolism. 100, 1, p. E173-E181

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

The thyroid hormone analog DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency

Ferrara, A. M., Liao, X. H., Ye, H., Weiss, R. E., Dumitrescu, A. M. & Refetoff, S., Nov 2015, In : Endocrinology. 156, 11, p. 3889-3894 6 p.

Research output: Contribution to journalArticle

17 Scopus citations
2014

American thyroid association guide to investigating thyroid hormone economy and action in rodent and cell models

Bianco, A., Anderson, G., Forrest, D., Galton, V. A., Gereben, B., Kim, B. W., Kopp, P. A., Liao, X. H., Obregon, M. J., Peeters, R. P., Refetoff, S., Sharlin, D. S., Simonides, W. S., Weiss, R. E. & Williams, G. R., Jan 1 2014, In : Thyroid. 24, 1, p. 88-168 81 p.

Research output: Contribution to journalArticle

98 Scopus citations

A novel mutation in the albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of bangladeshi extraction

Greenberg, S. M., Ferrara, A. M., Nicholas, E. S., Dumitrescu, A. M., Cody, V., Weiss, R. E. & Refetoff, S., Jun 1 2014, In : Thyroid. 24, 6, p. 945-950 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice

Ferrara, A. M., Liao, X. H., Gil-Ibáñez, P., Bernal, J., Weiss, R. E., Dumitrescu, A. M. & Refetoff, S., Oct 1 2014, In : Endocrinology. 155, 10, p. 4088-4093 6 p.

Research output: Contribution to journalArticle

13 Scopus citations
2013

A study of recurrence and death from papillary thyroid cancer with 27 years of median follow-up

Grogan, R. H., Kaplan, S. P., Cao, H., Weiss, R. E., Degroot, L. J., Simon, C. A., Embia, O. M. A., Angelos, P., Kaplan, E. L. & Schechter, R. B., Dec 1 2013, In : Surgery (United States). 154, 6, p. 1436-1447 12 p.

Research output: Contribution to journalArticle

110 Scopus citations

Changes in thyroid status during perinatal development of MCT8-deficient male mice

Ferrara, A. M., Liao, X. H., Gil-Ibáñez, P., Marcinkowski, T., Bernal, J., Weiss, R. E., Dumitrescu, A. M. & Refetoff, S., Jul 1 2013, In : Endocrinology. 154, 7, p. 2533-2541 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

Delayed development of specific thyroid hormone-regulated events in transthyretin null mice

Monk, J. A., Sims, N. A., Dziegielewska, K. M., Weiss, R. E., Ramsay, R. G. & Richardson, S. J., Jan 1 2013, In : American Journal of Physiology - Endocrinology and Metabolism. 304, 1, p. E23-E31

Research output: Contribution to journalArticle

21 Scopus citations

Impact of GH replacement therapy on sleep in adult patients with GH deficiency of pituitary origin

Morselli, L. L., Nedeltcheva, A., Leproult, R., Spiegel, K., Martino, E., Legros, J. J., Weiss, R. E., Mockel, J., Van Cauter, E. & Copinschi, G., May 2013, In : European Journal of Endocrinology. 168, 5, p. 763-770 8 p.

Research output: Contribution to journalArticle

12 Scopus citations

Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease

Larsen, C. C., Dumitrescu, A., Guerra-Argüero, L. M., Gállego-Suárez, C., Vazquez-Mellado, A., Vinogradova, M., Fletterick, R., Refetoff, S. & Weiss, R. E., Dec 1 2013, In : Thyroid. 23, 12, p. 1638-1643 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels

Di Cosmo, C., Liao, X. H., Ye, H., Ferrara, A. M., Weiss, R. E., Refetoff, S. & Dumitrescu, A. M., Dec 1 2013, In : Endocrinology. 154, 12, p. 4885-4895 11 p.

Research output: Contribution to journalArticle

22 Scopus citations

Thyroid hormone receptor-β agonists prevent hepatic steatosis in fat-fed rats but impair insulin sensitivity via discrete pathways

Vatner, D. F., Weismann, D., Beddow, S. A., Kumashiro, N., Erion, D. M., Liao, X. H., Grover, G. J., Webb, P., Phillips, K. J., Weiss, R. E., Bogan, J. S., Baxter, J., Shulman, G. I. & Samuel, V. T., Jul 1 2013, In : American Journal of Physiology - Endocrinology and Metabolism. 305, 1, p. E89-E100

Research output: Contribution to journalArticle

47 Scopus citations
2012

Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency

Verge, C. F., Konrad, D., Cohen, M., Di Cosmo, C., Dumitrescu, A. M., Marcinkowski, T., Hameed, S., Hamilton, J., Weiss, R. E. & Refetoff, S., Dec 1 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 12, p. 4515-4523 9 p.

Research output: Contribution to journalArticle

75 Scopus citations

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Three new cases and review of the literature

Ferrara, A. M., Onigata, K., Ercan, O., Woodhead, H., Weiss, R. E. & Refetoff, S., Apr 1 2012, In : Journal of Clinical Endocrinology and Metabolism. 97, 4, p. 1328-1336 9 p.

Research output: Contribution to journalArticle

63 Scopus citations

Transsphenoidal surgery for cushing disease: Experience with 136 patients

Ciric, I., Zhao, J. C., Du, H., Findling, J. W., Molitch, M. E., Weiss, R. E., Refetoff, S., Kerr, W. D. & Meyer, J., Jan 1 2012, In : Neurosurgery. 70, 1, p. 70-80 11 p.

Research output: Contribution to journalArticle

60 Scopus citations
2011

Distinct roles of deiodinases on the phenotype of Mct8 defect: A comparison of eight different mouse genotypes

Liao, X. H., Di Cosmo, C., Dumitrescu, A. M., Hernandez, A., Van Sande, J., St. Germain, D. L., Weiss, R. E., Galton, V. A. & Refetoff, S., Mar 1 2011, In : Endocrinology. 152, 3, p. 1180-1191 12 p.

Research output: Contribution to journalArticle

51 Scopus citations

Role of type 2 deiodinase in response to acute lung injury (ALI) in mice

Barca-Mayo, O., Liao, X. H., DiCosmo, C., Dumitrescu, A., Moreno-Vinasco, L., Wade, M. S., Sammani, S., Mirzapoiazova, T., Garcia, J. G. N., Refetoff, S. & Weissa, R. E., Dec 6 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 49, p. E1321-E1329

Research output: Contribution to journalArticle

23 Scopus citations

The nuclear receptor corepressor (NCoR) controls thyroid hormone sensitivity and the set point of the hypothalamic-pituitary-thyroid axis

Astapova, I., Vella, K. R., Ramadoss, P., Holtz, K. A., Rodwin, B. A., Liao, X. H., Weiss, R. E., Rosenberg, M. A., Rosenzweig, A. & Hollenberg, A. N., Feb 2011, In : Molecular Endocrinology. 25, 2, p. 212-224 13 p.

Research output: Contribution to journalArticle

55 Scopus citations

Thyroid hormone receptor α and regulation of type 3 deiodinase

Barca-Mayo, O., Liao, X. H., Alonso, M., di Cosmo, C., Hernandez, A., Refetoff, S. & Weiss, R. E., Apr 1 2011, In : Molecular Endocrinology. 25, 4, p. 575-583 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

TSH compensates thyroid-specific IGF-I receptor knockout and causes papillary thyroid hyperplasia

Müller, K., Führer, D., Mittag, J., Klöting, N., Blüher, M., Weiss, R. E., Many, M. C., Schmid, K. W. & Krohn, K., Nov 1 2011, In : Molecular Endocrinology. 25, 11, p. 1867-1879 13 p.

Research output: Contribution to journalArticle

16 Scopus citations
2010

Approach to the patient with resistance to thyroid hormone and pregnancy

Weiss, R. E., Dumitrescu, A. & Refetoff, S., Jul 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 7, p. 3094-3102 9 p.

Research output: Contribution to journalArticle

40 Scopus citations

Autoimmunity in patients with resistance to thyroid hormone

Barkoff, M. S., Kocherginsky, M., Anselmo, J., Weiss, R. E. & Refetoff, S., Jul 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 7, p. 3189-3193 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHα promoter

Wang, D., Xia, X., Weiss, R. E., Refetoff, S. & Yen, P. M., 2010, In : PloS one. 5, 3, e9853.

Research output: Contribution to journalArticle

22 Scopus citations

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

Di Cosmo, C., Liao, X. H., Dumitrescu, A. M., Philp, N. J., Weiss, R. E. & Refetoff, S., Sep 1 2010, In : Journal of Clinical Investigation. 120, 9, p. 3377-3388 12 p.

Research output: Contribution to journalArticle

108 Scopus citations

Sleep disturbances, daytime sleepiness, and quality of life in adults with growth hormone deficiency

Copinschi, G., Nedeltcheva, A., Leproult, R., Morselli, L. L., Spiegel, K., Martino, E., Legros, J. J., Weiss, R. E., Mockel, J. & Van Cauter, E., May 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 5, p. 2195-2202 8 p.

Research output: Contribution to journalArticle

24 Scopus citations

The interaction between nuclear receptor corepressor and histone deacetylase 3 regulates both positive and negative thyroid hormone action in vivo

You, S. H., Liao, X., Weiss, R. E. & Lazar, M. A., Jul 2010, In : Molecular Endocrinology. 24, 7, p. 1359-1367 9 p.

Research output: Contribution to journalArticle

40 Scopus citations
2009

A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport

Di Cosmo, C., Liao, X. H., Dumitrescu, A. M., Weiss, R. E. & Refetoff, S., Sep 2009, In : Endocrinology. 150, 9, p. 4450-4458 9 p.

Research output: Contribution to journalArticle

69 Scopus citations

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X)

Di Cosmo, C., McLellan, N., Liao, X. H., Khanna, K. K., Weiss, R. E., Papp, L. & Refetoff, S., Jan 1 2009, In : Journal of Clinical Endocrinology and Metabolism. 94, 10, p. 4003-4009 7 p.

Research output: Contribution to journalArticle

67 Scopus citations

Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro.

Moeller, L. C., Wardrip, C., Niekrasz, M., Refetoff, S. & Weiss, R. E., Jun 2009, In : Thyroid : official journal of the American Thyroid Association. 19, 6, p. 639-644 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) βin TRβ E457A knock-in and SRC-1 knockout mice

Alonso, M., Goodwin, C., Liao, X., Ortiga-Carvalho, T., Machado, D. S., Wondisford, F. E., Refetoff, S. & Weiss, R. E., Aug 2009, In : Endocrinology. 150, 8, p. 3927-3934 8 p.

Research output: Contribution to journalArticle

20 Scopus citations
2008

A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism

Bassett, J. H. D., Williams, A. J., Murphy, E., Boyde, A., Howell, P. G. T., Swinhoe, R., Archanco, M., Flamant, F., Samarut, J., Costagliola, S., Vassart, G., Weiss, R. E., Refetoff, S. & Williams, G. R., Feb 2008, In : Molecular Endocrinology. 22, 2, p. 501-512 12 p.

Research output: Contribution to journalArticle

77 Scopus citations
2007

Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: Studies in TH receptor β knockout mice

Alonso, M., Goodwin, C., Liao, X., Page, D., Refetoff, S. & Weiss, R. E., Nov 1 2007, In : Endocrinology. 148, 11, p. 5305-5312 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

Intractable early childhood obesity as the initial sign of insulin resistant hyperinsulinism and precursor of polycystic ovary syndrome

Littlejohn, E. E., Weiss, R. E., Deplewski, D., Edidin, D. V. & Rosenfield, R., Jan 2007, In : Journal of Pediatric Endocrinology and Metabolism. 20, 1, p. 41-51 11 p.

Research output: Contribution to journalArticle

30 Scopus citations

Iodine deficiency activates antioxidant genes and causes DNA damage in the thyroid gland of rats and mice

Maier, J., van Steeg, H., van Oostrom, C., Paschke, R., Weiss, R. E. & Krohn, K., Jun 1 2007, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1773, 6, p. 990-999 10 p.

Research output: Contribution to journalArticle

56 Scopus citations

Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats

Moeller, L. C., Alonso, M., Liao, X. H., Broach, V., Dumitrescu, A., Van Sande, J., Montanelli, L., Skjei, S., Goodwin, C., Grasberger, H., Refetoff, S. & Weiss, R. E., Oct 1 2007, In : Endocrinology. 148, 10, p. 4727-4733 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

Thyroid hormone excess rather than thyrotropin deficiency induces osteoporosis in hyperthyroidism

Bassett, J. H. D., O'Shea, P. J., Sriskantharajah, S., Rabier, B., Boyde, A., Howell, P. G. T., Weiss, R. E., Roux, J. P., Malaval, L., Clement-Lacroix, P., Samarut, J., Chassande, O. & Williams, G. R., May 2007, In : Molecular Endocrinology. 21, 5, p. 1095-1107 13 p.

Research output: Contribution to journalArticle

121 Scopus citations