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Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.

Letourneau LR, Greeley SAW.

Curr Diab Rep. 2019 Jun 27;19(8):52. doi: 10.1007/s11892-019-1175-9. Review.


Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).

Gregory JM, Smith TJ, Slaughter JC, Mason HR, Hughey CC, Smith MS, Kandasamy B, Greeley SAW, Philipson LH, Naylor RN, Letourneau LR, Abumrad NN, Cherrington AD, Moore DJ.

Diabetes. 2019 Aug;68(8):1565-1576. doi: 10.2337/db19-0324. Epub 2019 May 15.


GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

Sanyoura M, Letourneau L, Knight Johnson AE, Del Gaudio D, Greeley SAW, Philipson LH, Naylor RN.

Diabetes Res Clin Pract. 2019 May;151:231-236. doi: 10.1016/j.diabres.2019.04.017. Epub 2019 May 4.


Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.

Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, Hattersley AT.

Diabetes. 2019 Jul;68(7):1528-1535. doi: 10.2337/db19-0045. Epub 2019 Apr 8.


Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.

Dickens LT, Letourneau LR, Sanyoura M, Greeley SAW, Philipson LH, Naylor RN.

Acta Diabetol. 2019 Apr;56(4):405-411. doi: 10.1007/s00592-018-1267-z. Epub 2018 Dec 11.


ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME.

Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. doi: 10.1111/pedi.12772. No abstract available.


Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1.


Reprogramming human T cell function and specificity with non-viral genome targeting.

Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, Li PJ, Hiatt J, Saco J, Krystofinski P, Li H, Tobin V, Nguyen DN, Lee MR, Putnam AL, Ferris AL, Chen JW, Schickel JN, Pellerin L, Carmody D, Alkorta-Aranburu G, Del Gaudio D, Matsumoto H, Morell M, Mao Y, Cho M, Quadros RM, Gurumurthy CB, Smith B, Haugwitz M, Hughes SH, Weissman JS, Schumann K, Esensten JH, May AP, Ashworth A, Kupfer GM, Greeley SAW, Bacchetta R, Meffre E, Roncarolo MG, Romberg N, Herold KC, Ribas A, Leonetti MD, Marson A.

Nature. 2018 Jul;559(7714):405-409. doi: 10.1038/s41586-018-0326-5. Epub 2018 Jul 11.


Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Erratum in: Genet Med. 2018 Aug 11;:.


Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.

Letourneau LR, Greeley SAW.

Curr Diab Rep. 2018 Jun 13;18(7):46. doi: 10.1007/s11892-018-1016-2. Review.


Precision medicine in KCNJ11 permanent neonatal diabetes.

Greeley SAW, Letourneau LR, Philipson LH.

Lancet Diabetes Endocrinol. 2018 Aug;6(8):594-595. doi: 10.1016/S2213-8587(18)30138-4. Epub 2018 Jun 4. No abstract available.


Monogenic diabetes: the impact of making the right diagnosis.

Harris AG, Letourneau LR, Greeley SAW.

Curr Opin Pediatr. 2018 Aug;30(4):558-567. doi: 10.1097/MOP.0000000000000643. Review.


Congenital forms of diabetes: the beta-cell and beyond.

Letourneau LR, Greeley SAW.

Curr Opin Genet Dev. 2018 Jun;50:25-34. doi: 10.1016/j.gde.2018.01.005. Epub 2018 Feb 16. Review.


Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.

Lemelman MB, Letourneau L, Greeley SAW.

Clin Perinatol. 2018 Mar;45(1):41-59. doi: 10.1016/j.clp.2017.10.006. Epub 2017 Dec 16. Review.


Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.

Letourneau LR, Carmody D, Philipson LH, Greeley SAW.

J Endocr Soc. 2017 Nov 24;2(1):1-8. doi: 10.1210/js.2017-00356. eCollection 2018 Jan 1.


Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.

Lanning MS, Carmody D, Szczerbiński Ł, Letourneau LR, Naylor RN, Greeley SAW.

Pediatr Diabetes. 2018 May;19(3):393-397. doi: 10.1111/pedi.12599. Epub 2017 Dec 5.


FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium.

Pediatr Diabetes. 2018 May;19(3):388-392. doi: 10.1111/pedi.12612. Epub 2017 Nov 29.


Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.

Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):35-45. doi: 10.1210/jc.2017-01159.


Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.

Letourneau LR, Carmody D, Wroblewski K, Denson AM, Sanyoura M, Naylor RN, Philipson LH, Greeley SAW.

Diabetes Care. 2017 Oct;40(10):e147-e148. doi: 10.2337/dc17-1145. Epub 2017 Aug 4. No abstract available.


The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)

Greeley SA, Littlejohn E, Husain AN, Waggoner D, Gundeti M, Rosenfield RL.

Horm Res Paediatr. 2017;87(3):205-212. doi: 10.1159/000455142. Epub 2017 Mar 2.


Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.

Greeley SA, Zielinski MC, Poudel A, Ye H, Berry S, Taxy JB, Carmody D, Steiner DF, Philipson LH, Wood JR, Hara M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):1-5. doi: 10.1210/jc.2016-2826.


Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.

Smith E, Greeley SA, Ye H, Torgerson TR, Dimmitt R, Atkinson P, Philips J, Goldman F.

J Pediatr Gastroenterol Nutr. 2016 Nov;63(5):e119-e120. No abstract available.


ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.

Landmeier KA, Lanning M, Carmody D, Greeley SAW, Msall ME.

Pediatr Diabetes. 2017 Nov;18(7):518-523. doi: 10.1111/pedi.12428. Epub 2016 Aug 24.


Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.

Carmody D, Pastore AN, Landmeier KA, Letourneau LR, Martin R, Hwang JL, Naylor RN, Hunter SJ, Msall ME, Philipson LH, Scott MN, Greeley SA.

Diabet Med. 2016 Oct;33(10):1380-6. doi: 10.1111/dme.13159. Epub 2016 Jun 22.


GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.

Carmody D, Naylor RN, Bell CD, Berry S, Montgomery JT, Tadie EC, Hwang JL, Greeley SA, Philipson LH.

Acta Diabetol. 2016 Oct;53(5):703-8. doi: 10.1007/s00592-016-0859-8. Epub 2016 Apr 22.


Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.

Carmody D, Ladsaria SS, Buikema RK, Semple RK, Greeley SA.

Diabet Med. 2016 Mar;33(3):e8-e12. doi: 10.1111/dme.12884.


An online monogenic diabetes discussion group: supporting families and fueling new research.

Perrone ME, Carmody D, Philipson LH, Greeley SA.

Transl Res. 2015 Nov;166(5):425-31. doi: 10.1016/j.trsl.2015.06.013. Epub 2015 Jun 28.


Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.

Carmody D, Park SY, Ye H, Perrone ME, Alkorta-Aranburu G, Highland HM, Hanis CL, Philipson LH, Bell GI, Greeley SA.

J Med Genet. 2015 Sep;52(9):612-6. doi: 10.1136/jmedgenet-2015-103220. Epub 2015 Jun 22.


Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.

Carmody D, Beca FA, Bell CD, Hwang JL, Dickens JT, Devine NA, Mackay DJ, Temple IK, Hays LR, Naylor RN, Philipson LH, Greeley SA.

Diabetes Care. 2015 Jun;38(6):e86-7. doi: 10.2337/dc14-3056. No abstract available.


Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.

Thurber BW, Carmody D, Tadie EC, Pastore AN, Dickens JT, Wroblewski KE, Naylor RN, Philipson LH, Greeley SA; United States Neonatal Diabetes Working Group.

Diabetologia. 2015 Jul;58(7):1430-5. doi: 10.1007/s00125-015-3593-9. Epub 2015 Apr 17.


Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype.

Rosenfield RL, DiMeglio LA, Mauras N, Ross J, Shaw ND, Greeley SA, Haymond M, Rubin K, Rhodes ET.

J Clin Endocrinol Metab. 2015 Apr;100(4):1234-6. doi: 10.1210/jc.2014-3845.


Response letter to the editor.

Greeley SA.

J Clin Endocrinol Metab. 2015 Jan;100(1):L14. doi: 10.1210/jc.2014-4089. No abstract available.


Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D.

Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28.


Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.

Carmody D, Bell CD, Hwang JL, Dickens JT, Sima DI, Felipe DL, Zimmer CA, Davis AO, Kotlyarevska K, Naylor RN, Philipson LH, Greeley SA.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2709-14. doi: 10.1210/jc.2014-2494.


Hyperinsulinism in a neonate.

Blanco M, Khan O, Stanley K, Hageman JR, Greeley SA.

Pediatr Ann. 2014 Mar;43(3):e56-60. doi: 10.3928/00904481-20140221-08.


Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.

Philla KQ, Bauer AJ, Vogt KS, Greeley SA.

Diabetes Care. 2013 Dec;36(12):e201. doi: 10.2337/dc13-1690. Review. No abstract available. Erratum in: Diabetes Care. 2014 Feb;37(2):588.


Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA.

Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21.


Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.

Naylor RN, John PM, Winn AN, Carmody D, Greeley SA, Philipson LH, Bell GI, Huang ES.

Diabetes Care. 2014;37(1):202-9. doi: 10.2337/dc13-0410. Epub 2013 Sep 11.


Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA.

Pediatr Diabetes. 2014 Feb;15(1):67-72. doi: 10.1111/pedi.12063. Epub 2013 Aug 5.


Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.

McTaggart JS, Jenkinson N, Brittain JS, Greeley SA, Hattersley AT, Ashcroft FM.

PLoS One. 2013 Apr 23;8(4):e62646. doi: 10.1371/journal.pone.0062646. Print 2013.


Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

Flanagan SE, Mackay DJ, Greeley SA, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, Flynn DP, Popovic J, Sperling MA, Hussain K, Ellard S, Hattersley AT.

Diabetologia. 2013 Jan;56(1):218-21. doi: 10.1007/s00125-012-2766-z. Epub 2012 Oct 31. No abstract available.


Genomic sequencing in newborn screening programs.

Greeley SA, Msall ME, Acharya K.

JAMA. 2012 May 23;307(20):2146-7; author reply 2147. doi: 10.1001/jama.2012.3635. No abstract available.


Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Greeley SA, Naylor RN, Philipson LH, Bell GI.

Curr Diab Rep. 2011 Dec;11(6):519-32. doi: 10.1007/s11892-011-0234-7. Review.


Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes.

Greeley SA, Naylor RN, Cook LS, Tucker SE, Lipton RB, Philipson LH.

J Diabetes Sci Technol. 2011 Jul 1;5(4):879-86.


Genetics and pathophysiology of neonatal diabetes mellitus.

Naylor RN, Greeley SA, Bell GI, Philipson LH.

J Diabetes Investig. 2011 Jun 5;2(3):158-69. doi: 10.1111/j.2040-1124.2011.00106.x. Review.


Onset features and subsequent clinical evolution of childhood diabetes over several years.

Lipton RB, Drum ML, Danielson KK, Greeley SA, Bell GI, Hagopian WA.

Pediatr Diabetes. 2011 Jun;12(4 Pt 1):326-34. doi: 10.1111/j.1399-5448.2010.00706.x. Epub 2011 Mar 23.


HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes.

Lipton RB, Drum M, Greeley SA, Danielson KK, Bell GI, Hagopian WA.

Pediatr Diabetes. 2011 Jun;12(4 Pt 2):388-95. doi: 10.1111/j.1399-5448.2010.00712.x. Epub 2011 Mar 21.


The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.

Greeley SA, John PM, Winn AN, Ornelas J, Lipton RB, Philipson LH, Bell GI, Huang ES.

Diabetes Care. 2011 Mar;34(3):622-7. doi: 10.2337/dc10-1616. Epub 2011 Jan 27.


Neonatal diabetes mellitus: a model for personalized medicine.

Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH.

Trends Endocrinol Metab. 2010 Aug;21(8):464-72. doi: 10.1016/j.tem.2010.03.004. Epub 2010 Apr 29. Review.

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