Page 58 - CBAC Newsletter 2016

Publications

July 2015 - July 2016

Daniel ory, M.D. (Con't.)

Adebali O, Reznik AO, Ory DS, Zhulin IB. Establishing the precise evolutionary history of a gene improves prediction of
disease-causing missense mutations. Genet Med. 2016 Feb 18. [Epub ahead of print]. PMID: 26890452

Jiang X, Ory DS. Towards a New Diagnostic Standard for Niemann-Pick C Disease. EBioMedicine. 2016 Jan 9;4:18-9.
eCollection 2016 Feb. No abstract available. PMID: 26981565, PMCID: PMC4776064

Chung C, Puthanveetil P, Ory DS, Lieberman AP. Genetic and pharmacological evidence implicates cathepsins in
Niemann-Pick C cerebellar degeneration. Hum Mol Genet. 2016 Apr 1;25(7):1434-46.
Epub 2016 Jan 28. PMID: 26908626, PMCID: PMC4787909

Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD,
Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE,
Ory DS. Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med.
2016 May 4;8(337):337ra63. PMID: 27147587

Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W,
Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS,
Pavan WJ, Sidransky E. A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe
pathophysiology and therapeutics for Gaucher disease. PMID: 27482815; PMCID: PMC4958308

Maria S. Remedi, Ph.D.

Baier LJ, Muller YL, Remedi MS, Traurig M, Piaggi P, Wiessner G, Huang K, Stacy A, Kobes S, Krakoff J, Bennett PH,
Nelson RG, Knowler WC, Hanson RL, Nichols CG, Bogardus C. ABCC8 R1420H Loss-of-Function Variant in a
Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of
Type 2 Diabetes.Diabetes. 2015 Dec;64(12):4322-32. Epub 2015 Aug 5. PMID: 26246406,
PMCID: PMC4657583

stacey rentschler, M.D., Ph.D.

Meyers JD, Jay PY, Rentschler S. Reprogramming the conduction system: Onward toward a biological
pacemaker. Trends Cardiovasc Med. 2016 Jan;26(1):14-20. Epub 2015 Apr 1. PMID: 25937044,
PMCID: PMC4591112

Chiplunkar A, Rentschler S. Notch Activation Associated With Poor Outcomes in Heart Failure: Is it Harmful, or Not
Enough of a Good Thing?. J Card Fail. 2016 Mar;22(3):224-5. Epub 2016 Jan 14. PMID: 26777760

clifford robinson, M.D.

Huang J, DeWees TA, Badiyan SN, Speirs CK, Mullen DF, Fergus S, Tran DD, Linette G, Campian JL, Chicoine MR,
Kim AH, Dunn G, Simpson JR, Robinson CG. Clinical and Dosimetric Predictors of Acute Severe Lymphopenia
During Radiation Therapy and Concurrent Temozolomide for High-Grade Glioma. Int J Radiat Oncol Biol Phys.
2015 Aug 1;92(5):1000-7. Epub 2015 Apr 8. PMID: 26025775

Waqar SN, Waqar SH, Trinkaus K, Gadea CA, Robinson CG, Bradley J, Watson MA, Puri V, Govindan R,
Morgensztern D. Brain Metastases at Presentation in Patients With Non-Small Cell Lung Cancer.
Am J Clin Oncol. 2015 Oct 15. [Epub ahead of print]. PMID: 26359696, PMCID: PMC4833709

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