William F. Simonds, M.D.

Photo of Dr. William Simonds
Scientific Focus Areas: Cancer Biology, Cell Biology, Genetics and Genomics, Molecular Biology and Biochemistry, Neuroscience

Publications

A selection of recent and significant publications can be viewed below.

Select Publications

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK.
Am J Hum Genet (2016 Nov 3) 99:1034-1044. Abstract/Full Text
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G.
Am J Hum Genet (2016 Sep 1) 99:786. Abstract/Full Text
Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice.
Zhang JH, Pandey M, Seigneur EM, Panicker LM, Koo L, Schwartz OM, Chen W, Chen CK, Simonds WF.
J Neurochem (2011 Nov) 119:544-54. Abstract/Full Text
Genetics of Hyperparathyroidism, Including Parathyroid Cancer.
Simonds WF.
Endocrinol Metab Clin North Am (2017 Jun) 46:405-418. Abstract/Full Text
A central role for R7bp in the regulation of itch sensation.
Pandey M, Zhang JH, Mishra SK, Adikaram PR, Harris B, Kahler JF, Loshakov A, Sholevar R, Genis A, Kittock C, Kabat J, Ganesan S, Neubig RR, Hoon MA, Simonds WF.
Pain (2017 May) 158:931-944. Abstract/Full Text

Additional Publications

CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors.
Vocke CD, Ricketts CJ, Ball MW, Schmidt LS, Metwalli AR, Middelton LA, Killian JK, Khan J, Meltzer PS, Simonds WF, Merino MJ, Linehan WM.
Urology (2019 Feb) 124:91-97. Abstract/Full Text
Endocrine neoplasms in familial syndromes of hyperparathyroidism.
Li Y, Simonds WF.
Endocr Relat Cancer (2016 Jun) 23:R229-47. Abstract/Full Text
Optimization of genome editing through CRISPR-Cas9 engineering.
Zhang JH, Adikaram P, Pandey M, Genis A, Simonds WF.
Bioengineered (2016 Apr) 7:166-74. Abstract/Full Text
Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1.
Sadowski SM, Millo C, Cottle-Delisle C, Merkel R, Yang LA, Herscovitch P, Pacak K, Simonds WF, Marx SJ, Kebebew E.
J Am Coll Surg (2015 Aug) 221:509-17. Abstract/Full Text
Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
Mehta A, Patel D, Rosenberg A, Boufraqech M, Ellis RJ, Nilubol N, Quezado MM, Marx SJ, Simonds WF, Kebebew E.
Surgery (2014 Dec) 156:1315-24; discussion 1324-5. Abstract/Full Text
Improving the specificity and efficacy of CRISPR/CAS9 and gRNA through target specific DNA reporter.
Zhang JH, Pandey M, Kahler JF, Loshakov A, Harris B, Dagur PK, Mo YY, Simonds WF.
J Biotechnol (2014 Nov 10) 189:1-8. Abstract/Full Text
Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome.
Wolff EF, Hill MJ, Simonds WF, Segars JH.
Fertil Steril (2012 Dec) 98:1616-9. Abstract/Full Text
Cushing's syndrome in multiple endocrine neoplasia type 1.
Simonds WF, Varghese S, Marx SJ, Nieman LK.
Clin Endocrinol (Oxf) (2012 Mar) 76:379-86. Abstract/Full Text
The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome.
Zhang JH, Seigneur EM, Pandey M, Loshakov A, Dagur PK, Connelly PS, Koo L, Panicker LM, Simonds WF.
Cell Death Dis (2012 Feb 2) 3:266. Abstract/Full Text
A new look at vitamin D metabolism and "idiopathic" hypercalcemia.
Simonds WF.
J Clin Endocrinol Metab (2012 Feb) 97:384-6. Abstract/Full Text
Parathyroid cancer.
Sharretts JM, Kebebew E, Simonds WF.
Semin Oncol (2010 Dec) 37:580-90. Abstract/Full Text
Cytoplasmic polyadenylation element binding protein is a conserved target of tumor suppressor HRPT2/CDC73.
Zhang JH, Panicker LM, Seigneur EM, Lin L, House CD, Morgan W, Chen WC, Mehta H, Haj-Ali M, Yu ZX, Simonds WF.
Cell Death Differ (2010 Oct) 17:1551-65. Abstract/Full Text
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
Panicker LM, Zhang JH, Dagur PK, Gastinger MJ, Simonds WF.
Endocr Relat Cancer (2010 Jun) 17:513-24. Abstract/Full Text
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene.
Lin L, Zhang JH, Panicker LM, Simonds WF.
Proc Natl Acad Sci U S A (2008 Nov 11) 105:17420-5. Abstract/Full Text
The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.
Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ.
J Clin Endocrinol Metab (2007 May) 92:1948-51. Abstract/Full Text
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.
Lin L, Czapiga M, Nini L, Zhang JH, Simonds WF.
Mol Cancer Res (2007 Feb) 5:183-93. Abstract/Full Text