Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • Ph.D., Guru Nanak University (India) 1987
• 

  Duke Appointment History

  • Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2009 - 2015
  • Assistant Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2007 - 2009
• Research
• 

  Selected Grants

  • Method development and data validationfor MPS I awarded by JCR USA, Inc. 2020 - 2021
  • Method development and data validationfor MPS II awarded by JCR USA, Inc. 2020 - 2021
  • Pharmacodynamic study using rhaGLU in a Pompe mouse model. Nonclinical GAA-KO mouse study design proposal rhaGLU awarded by Pharming Group N.V. 2019 - 2020
  • Development and validation of skin fibroblast Cross Reactive Immunological (CRIM) assay for MPSIIIa. awarded by Swedish Orphan Biovitrum SARL 2018 - 2020
  • A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease awarded by National Institutes of Health 2017 - 2020
  • Potency Assays awarded by Actus Therapeutics 2018 - 2019
  • Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease awarded by Genzyme Corporation 2016 - 2018
  • Activity and Biodistribution of the AAV2/8-LSPhGAA in GAA-knockout mice awarded by Actus Therapeutics 2018
  • Blood spot GAA Enzyme Testing and GAA Gene Sequencing for Patients Suspected to have Pompe Disease awarded by Genzyme Corporation 2016 - 2017
  • A study to identify the frequency of lysosomal acid lipase deficiency in at-risk patient populations awarded by Synageva BioPharma 2014 - 2016
  • Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease awarded by Roivant Sciences, Inc. 2015 - 2016
  • Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease awarded by Food and Drug Administration 2013 - 2016
  • Analysis of acide alpha-glucosidase (GAA) enzyme activity and full gene sequencing in the suspected US patient population awarded by Genzyme Corporation 2014 - 2016
  • Lab on a Chip for Multiplexed Newborn Screening of Lysosomal Storage Disease awarded by Baebies, Inc 2009 - 2015
  • Analysis of acid alpha-glucosidase (GAA) activity in the suspected patients in US population; GAA full gene sequence analysis in positively identified patients for Pompe disease awarded by Genzyme Corporation 2014
  • Measurement of LAL enzyme activity and LIPA gene sequencing on suspected Wolman and CESD disease patients awarded by Synageva BioPharma 2013 - 2014
  • Clinical Trial Planning in Pompe Disease awarded by National Institutes of Health 2013 - 2014
  • Gene delivery to striated muscle by systemic AAV vectors awarded by National Institutes of Health 2006 - 2012
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • Stiles, Ashlee R., Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, and Sarah P. Young. “A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.” Mol Genet Metab 130, no. 3 (July 2020): 209–14. https://doi.org/10.1016/j.ymgme.2020.04.006.
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    • Burrage, Lindsay C., Simran Madan, Xiaohui Li, Saima Ali, Mahmoud Mohammad, Bridget M. Stroup, Ming-Ming Jiang, et al. “Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.” Jci Insight 5, no. 4 (February 27, 2020). https://doi.org/10.1172/jci.insight.132342.
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    • Koeberl, Dwight D., Laura E. Case, Ankit Desai, Edward C. Smith, Crista Walters, Sang-Oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 67–72. https://doi.org/10.1016/j.ymgme.2019.12.008.
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    • Gupta, Neerja, Zoheb B. Kazi, Sheela Nampoothiri, Sujatha Jagdeesh, Madhulika Kabra, Ratna Dua Puri, Mamta Muranjan, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.” J Pediatr 216 (January 2020): 44-50.e5. https://doi.org/10.1016/j.jpeds.2019.08.058.
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    • Ullal, A. J., H. Pham, R. Singh, P. Ross, C. A. Graham, S. M. Norton, M. H. Nuffer, et al. “Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens.” Practical Laboratory Medicine 18 (January 1, 2020). https://doi.org/10.1016/j.plabm.2019.e00141.
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    • Halaby, Carine A., Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, et al. “Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.” Genet Med 21, no. 12 (December 2019): 2686–94. https://doi.org/10.1038/s41436-019-0561-7.
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    • Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, and Priya S. Kishnani. “Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.” Mol Genet Metab Rep 20 (September 2019): 100475. https://doi.org/10.1016/j.ymgmr.2019.100475.
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    • Taylor, Jennifer L., Kristin Clinard, Cynthia M. Powell, Catherine Rehder, Sarah P. Young, Deeksha Bali, Sara E. Beckloff, et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.” The Journal of Pediatrics 211 (August 2019): 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027.
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    • Wang, Gensheng, Sarah P. Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, and Dwight D. Koeberl. “Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.” Mol Ther Methods Clin Dev 13 (June 14, 2019): 493. https://doi.org/10.1016/j.omtm.2019.05.001.
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    • Kishnani, Priya S., Jennifer Goldstein, Stephanie L. Austin, Pamela Arn, Bert Bachrach, Deeksha S. Bali, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).” Genet Med 21, no. 4 (April 2019): 772–89. https://doi.org/10.1038/s41436-018-0364-2.
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    • Koeberl, Dwight D., Laura E. Case, Edward C. Smith, Crista Walters, Sang-Oh Han, Yanzhen Li, Wei Chen, et al. “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.” Mol Ther 26, no. 9 (September 5, 2018): 2304–14. https://doi.org/10.1016/j.ymthe.2018.06.023.
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    • Millington, David S., and Deeksha S. Bali. “Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.” Int J Neonatal Screen 4, no. 3 (September 2018): 24. https://doi.org/10.3390/ijns4030024.
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    • Mori, Mari, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, and Priya S. Kishnani. “Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.” Mol Genet Metab 122, no. 4 (December 2017): 189–97. https://doi.org/10.1016/j.ymgme.2017.10.008.
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    • Puzzo, Francesco, Pasqualina Colella, Maria G. Biferi, Deeksha Bali, Nicole K. Paulk, Patrice Vidal, Fanny Collaud, et al. “Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.” Sci Transl Med 9, no. 418 (November 29, 2017). https://doi.org/10.1126/scitranslmed.aam6375.
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    • Gopakumar, Kaduveettil G., Priyakumari Thankamony, Sheela Nampoothiri, Deeksha Bali, Jubie Raj, Jayasudha A Vasudevan, and Ramachandran K Nair. “Wolman Disease: A Mimic of Infant Leukemia.” J Pediatr Hematol Oncol 39, no. 8 (November 2017): e489–92. https://doi.org/10.1097/MPH.0000000000000861.
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    • Torok, Rachel D., Stephanie L. Austin, Chanika Phornphutkul, Kathleen M. Rotondo, Deeksha Bali, Gregory H. Tatum, Stephanie B. Wechsler, Anne F. Buckley, and Priya S. Kishnani. “PRKAG2 mutations presenting in infancy.” J Inherit Metab Dis 40, no. 6 (November 2017): 823–30. https://doi.org/10.1007/s10545-017-0072-0.
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    • Schoch, Kelly, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, et al. “A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.” Am J Hum Genet 100, no. 2 (February 2, 2017): 343–51. https://doi.org/10.1016/j.ajhg.2016.12.013.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, and Priya S. Kishnani. “Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.” Jimd Rep 37 (2017): 63–72. https://doi.org/10.1007/8904_2017_8.
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    • Mori, Mari, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley, and Priya S. Kishnani. “Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.” Jimd Rep 31 (2017): 79–83. https://doi.org/10.1007/8904_2016_563.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Catherine Rehder, Zoheb B. Kazi, Kathryn L. Berrier, Jian Dai, and Priya S. Kishnani. “Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.” Mol Genet Metab Rep 5 (December 1, 2015): 76–79. https://doi.org/10.1016/j.ymgmr.2015.10.012.
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    • Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genet Med 17, no. 11 (November 2015): 912–18. https://doi.org/10.1038/gim.2015.6.
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    • Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genetics in Medicine 17, no. 11 (November 2015): 912–18. https://doi.org/10.1038/gim.2015.6.
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    • Berrier, Kathryn L., Zoheb B. Kazi, Sean N. Prater, Deeksha S. Bali, Jennifer Goldstein, Mihaela C. Stefanescu, Catherine W. Rehder, et al. “CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.” Genet Med 17, no. 7 (July 2015): 596. https://doi.org/10.1038/gim.2015.57.
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    • Kishnani, Priya S., Zoheb B. Kazi, Kathryn L. Berrier, Stephanie M. Dearmey, Deeksha S. Bali, and Amy S. Rosenberg. “Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.” J Neuromuscul Dis 2, no. s1 (2015): S7.
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    • Wang, Gensheng, Sarah P. Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, and Dwight D. Koeberl. “Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".” Mol Ther Methods Clin Dev 2 (2015): 15002. https://doi.org/10.1038/mtm.2015.2.
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    • Kishnani, Priya S., Stephanie L. Austin, Jose E. Abdenur, Pamela Arn, Deeksha S. Bali, Anne Boney, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.” Genet Med 16, no. 11 (November 2014): e1. https://doi.org/10.1038/gim.2014.128.
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    • Chiu, Li-Ya, Priya S. Kishnani, Tzu-Po Chuang, Cheng-Yang Tang, Cheng-Yuan Liu, Deeksha Bali, Dwight Koeberl, et al. “Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.” J Gastroenterol 49, no. 8 (August 2014): 1274–84. https://doi.org/10.1007/s00535-013-0890-2.
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    • Goldstein, Jennifer L., Gwen Dickerson, Priya S. Kishnani, Catherine Rehder, and Deeksha S. Bali. “Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.” Muscle Nerve 49, no. 5 (May 2014): 775–76. https://doi.org/10.1002/mus.24149.
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    • Koeberl, Dwight D., Stephanie Austin, Laura E. Case, Edward C. Smith, Anne F. Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.” Faseb J 28, no. 5 (May 2014): 2171–76. https://doi.org/10.1096/fj.13-241893.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A. Weinstein, Richard Lutz, Avihu Boneh, and Priya S. Kishnani. “Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.” Mol Genet Metab 111, no. 3 (March 2014): 309–13. https://doi.org/10.1016/j.ymgme.2013.12.008.
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    • Simon, Mariella, Richard C. Chang, Deeksha S. Bali, Lee-Jun Wong, Ying Peng, and Jose E. Abdenur. “Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.” Jimd Rep 14 (2014): 29–35. https://doi.org/10.1007/8904_2013_280.
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    • Ullal, Anirudh J., David S. Millington, and Deeksha S. Bali. “Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.” Mol Genet Metab Rep 1 (2014): 461–64. https://doi.org/10.1016/j.ymgmr.2014.10.004.
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    • Ullal, Anirudh J., David S. Millington, and Deeksha S. Bali. “Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.” Mol Genet Metab Rep 1 (2014): 465–67. https://doi.org/10.1016/j.ymgmr.2014.10.005.
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    • Wang, Gensheng, Sarah P. Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, and Dwight D. Koeberl. “Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.” Mol Ther Methods Clin Dev 1 (2014): 14018. https://doi.org/10.1038/mtm.2014.18.
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    • Graham, Carrie, Ramakrishna S. Sista, Jairus Kleinert, Ning Wu, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula. “Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.” Clin Biochem 46, no. 18 (December 2013): 1889–91. https://doi.org/10.1016/j.clinbiochem.2013.09.003.
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    • Sista, Ramakrishna S., Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Theodore Winger, Vijay Srinivasan, Deeksha Bali, David S. Millington, and Vamsee K. Pamula. “Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.” Clin Chim Acta 424 (September 23, 2013): 12–18. https://doi.org/10.1016/j.cca.2013.05.001.
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    • Sista, Ramakrishna S., Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula. “Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.” Mol Genet Metab 109, no. 2 (June 2013): 218–20. https://doi.org/10.1016/j.ymgme.2013.03.010.
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    • Sun, Baodong, Keri Fredrickson, Stephanie Austin, Adviye A. Tolun, Beth L. Thurberg, William E. Kraus, Deeksha Bali, Yuan-Tsong Chen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.” Mol Genet Metab 108, no. 2 (February 2013): 145–47. https://doi.org/10.1016/j.ymgme.2012.12.002.
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    • Banugaria, Suhrad G., Sean N. Prater, Trusha T. Patel, Stephanie M. Dearmey, Christie Milleson, Kathryn B. Sheets, Deeksha S. Bali, et al. “Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.” Plos One 8, no. 6 (2013): e67052. https://doi.org/10.1371/journal.pone.0067052.
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    • Li, Songtao, Baodong Sun, Mats I. Nilsson, Andrew Bird, Mark A. Tarnopolsky, Beth L. Thurberg, Deeksha Bali, and Dwight D. Koeberl. “Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.” Faseb J 27, no. 1 (January 2013): 34–44. https://doi.org/10.1096/fj.12-207472.
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    • Chesnier, I., D. Bali, D. Casanova, R. Legre, and G. Magalon. “Cent cinquante-sept lambeaux pédiculés utilisés dans la reconstruction des membres inférieurs : étude rétrospective sur dix ans.” Annales De Chirurgie Plastique Esthétique 57, no. 4 (August 2012): 328–35. https://doi.org/10.1016/j.anplas.2010.11.005.
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    • Johnson, Abiodun O., Jennifer L. Goldstein, and Deeksha Bali. “Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.” J Pediatr Gastroenterol Nutr 55, no. 1 (July 2012): 90–92. https://doi.org/10.1097/MPG.0b013e31823276ea.
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    • Magoulas, Pilar L., Ayman W. El-Hattab, Angshumoy Roy, Deeksha S. Bali, Milton J. Finegold, and William J. Craigen. “Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.” Hum Pathol 43, no. 6 (June 2012): 943–51. https://doi.org/10.1016/j.humpath.2011.10.001.
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    • Tolun, Adviye A., Carrie Graham, Qun Shi, Ramakrishna S. Sista, Tong Wang, Allen E. Eckhardt, Vamsee K. Pamula, David S. Millington, and Deeksha S. Bali. “A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.” Mol Genet Metab 105, no. 3 (March 2012): 519–21. https://doi.org/10.1016/j.ymgme.2011.12.011.
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    • Bali, Deeksha S., Jennifer L. Goldstein, Suhrad Banugaria, Jian Dai, Joanne Mackey, Catherine Rehder, and Priya S. Kishnani. “Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 40–49. https://doi.org/10.1002/ajmg.c.31319.
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    • Young, Sarah P., Monique Piraud, Jennifer L. Goldstein, Haoyue Zhang, Catherine Rehder, Pascal Laforet, Priya S. Kishnani, David S. Millington, Mustafa R. Bashir, and Deeksha S. Bali. “Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.” Am J Med Genet C Semin Med Genet 160C, no. 1 (February 15, 2012): 50–58. https://doi.org/10.1002/ajmg.c.31320.
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    • Koeberl, Dwight D., Songtao Li, Jian Dai, Beth L. Thurberg, Deeksha Bali, and Priya S. Kishnani. “β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.” Mol Genet Metab 105, no. 2 (February 2012): 221–27. https://doi.org/10.1016/j.ymgme.2011.11.005.
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    • Li, Sing-Chung, Wuh-Liang Hwu, Ju-Li Lin, Deeksha S. Bali, Chen Yang, Shih-Ming Chu, Yin-Hsiu Chien, et al. “Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.” J Child Neurol 27, no. 2 (February 2012): 204–8. https://doi.org/10.1177/0883073811415107.
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    • Messinger, Yoav H., Nancy J. Mendelsohn, William Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon A. Jones, et al. “Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.” Genet Med 14, no. 1 (January 2012): 135–42. https://doi.org/10.1038/gim.2011.4.
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    • Achouitar, Samira, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, et al. “Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.” Mol Genet Metab 104, no. 4 (December 2011): 691–94. https://doi.org/10.1016/j.ymgme.2011.08.021.
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    • Prajnya, R., C. Rehder, S. R. Phadke, and D. Bali. “Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?” Indian Pediatr 48, no. 11 (November 11, 2011): 901–2. https://doi.org/10.1007/s13312-011-0130-x.
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    • Sista, Ramakrishna S., Allen E. Eckhardt, Tong Wang, Carrie Graham, Jeremy L. Rouse, Scott M. Norton, Vijay Srinivasan, et al. “Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.” Clin Chem 57, no. 10 (October 2011): 1444–51. https://doi.org/10.1373/clinchem.2011.163139.
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    • Reuser, Arnold J., Frans W. Verheijen, Deeksha Bali, Otto P. van Diggelen, Dominique P. Germain, Wuh-Liang Hwu, Zoltan Lukacs, et al. “The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.” Mol Genet Metab 104, no. 1–2 (September 2011): 144–48. https://doi.org/10.1016/j.ymgme.2011.07.014.
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    • Koeberl, Dwight D., Xiaoyan Luo, Baodong Sun, Alison McVie-Wylie, Jian Dai, Songtao Li, Suhrad G. Banugaria, Y. -. T. Chen, and Deeksha S. Bali. “Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.” Mol Genet Metab 103, no. 2 (June 2011): 107–12. https://doi.org/10.1016/j.ymgme.2011.02.006.
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    • Bali, Deeksha S., Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai, and Priya S. Kishnani. “Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.” Muscle Nerve 43, no. 5 (May 2011): 665–70. https://doi.org/10.1002/mus.21933.
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    • Lee, Yi-Ching, Chia-Jung Chang, Deeksha Bali, Yuan-Tsong Chen, and Yu-Ting Yan. “Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.” Hum Mol Genet 20, no. 3 (February 1, 2011): 455–65. https://doi.org/10.1093/hmg/ddq492.
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    • Brassat, Ute, Stefan Balabanov, Daniel Bali, Judith Dierlamm, Melanie Braig, Ulrike Hartmann, Hüseyin Sirma, et al. “Functional p53 is required for effective execution of telomerase inhibition in BCR-ABL–positive CML cells.” Experimental Hematology 39, no. 1 (January 2011): 66-76.e2. https://doi.org/10.1016/j.exphem.2010.10.001.
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    • Li, Sing-Chung, Chiao-Ming Chen, Jennifer L. Goldstein, Jer-Yuarn Wu, Emmanuelle Lemyre, Thomas Andrew Burrow, Peter B. Kang, Yuan-Tsong Chen, and Deeksha S. Bali. “Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.” J Inherit Metab Dis 33 Suppl 3 (December 2010): S83–90. https://doi.org/10.1007/s10545-009-9026-5.
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    • Kishnani, P. S., S. L. Austin, P. Arn, D. S. Bali, A. Boney, and L. E. Case. “Glycogen storage disease type III diagnosis and management guidelines (vol 12, pg 446, 2010).” Genetics in Medicine 12, no. 9 (September 1, 2010): 566–566.
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    • Goldstein, Jennifer L., Stephanie L. Austin, Keri Boyette, Angela Kanaly, Aravind Veerapandiyan, Catherine Rehder, Priya S. Kishnani, and Deeksha S. Bali. “Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.” Genet Med 12, no. 7 (July 2010): 424–30. https://doi.org/10.1097/GIM.0b013e3181d94eaa.
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    • Hobson-Webb, Lisa D., Stephanie L. Austin, Deeksha S. Bali, and Priya S. Kishnani. “The electrodiagnostic characteristics of Glycogen Storage Disease Type III.” Genet Med 12, no. 7 (July 2010): 440–45. https://doi.org/10.1097/GIM.0b013e3181cd735b.
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    • Kishnani, Priya S., Stephanie L. Austin, Pamela Arn, Deeksha S. Bali, Anne Boney, Laura E. Case, Wendy K. Chung, et al. “Glycogen storage disease type III diagnosis and management guidelines.” Genet Med 12, no. 7 (July 2010): 446–63. https://doi.org/10.1097/GIM.0b013e3181e655b6.
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    • Vertilus, Shawyntee M., Stephanie L. Austin, Kimberly S. Foster, Keri E. Boyette, Deeksha S. Bali, Jennifer S. Li, Priya S. Kishnani, and Stephanie Burns Wechsler. “Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.” Genet Med 12, no. 7 (July 2010): 413–23. https://doi.org/10.1097/GIM.0b013e3181e0e979.
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    • Chen, Y. T., and D. S. Bali. “Prenatal Diagnosis of DisorDers of Carbohydrate Metabolism,” May 18, 2010, 554–76. https://doi.org/10.1002/9781444314342.ch16.
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    • Millington, David S., Ramakrishna Sista, Allen Eckhardt, Jeremy Rouse, Deeksha Bali, Ronald Goldberg, Michael Cotten, Rebecca Buckley, and Vamsee Pamula. “Digital microfluidics: a future technology in the newborn screening laboratory?” Semin Perinatol 34, no. 2 (April 2010): 163–69. https://doi.org/10.1053/j.semperi.2009.12.008.
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    • Kishnani, Priya S., Paula C. Goldenberg, Stephanie L. DeArmey, James Heller, Danny Benjamin, Sarah Young, Deeksha Bali, et al. “Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.” Mol Genet Metab 99, no. 1 (January 2010): 26–33. https://doi.org/10.1016/j.ymgme.2009.08.003.
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    • Kishnani, Priya S., Tzu-Po Chuang, Deeksha Bali, Dwight Koeberl, Stephanie Austin, David A. Weinstein, Elaine Murphy, et al. “Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.” Hum Mol Genet 18, no. 24 (December 15, 2009): 4781–90. https://doi.org/10.1093/hmg/ddp441.
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    • Goldstein, Jennifer L., Sarah P. Young, Mohita Changela, Gwen H. Dickerson, Haoyue Zhang, Jian Dai, Denise Peterson, David S. Millington, Priya S. Kishnani, and Deeksha S. Bali. “Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.” Muscle Nerve 40, no. 1 (July 2009): 32–36. https://doi.org/10.1002/mus.21376.
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    • Koeberl, D. D., P. S. Kishnani, D. Bali, and Y. -. T. Chen. “Emerging therapies for glycogen storage disease type I.” Trends Endocrinol Metab 20, no. 5 (July 2009): 252–58. https://doi.org/10.1016/j.tem.2009.02.003.
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    • Young, Sarah P., Haoyue Zhang, Deyanira Corzo, Beth L. Thurberg, Deeksha Bali, Priya S. Kishnani, and David S. Millington. “Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.” Genet Med 11, no. 7 (July 2009): 536–41. https://doi.org/10.1097/GIM.0b013e3181a87867.
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    • Nicolino, Marc, Barry Byrne, J Edmund Wraith, Nancy Leslie, Hanna Mandel, David R. Freyer, Georgianne L. Arnold, et al. “Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.” Genet Med 11, no. 3 (March 2009): 210–19. https://doi.org/10.1097/GIM.0b013e31819d0996.
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    • Case, Laura E., Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, and Priya S. Kishnani. “Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.” Mol Genet Metab 95, no. 4 (December 2008): 233–35. https://doi.org/10.1016/j.ymgme.2008.09.001.
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    • Pompe Disease Diagnostic Working Group, J., B. Winchester, D. Bali, O. A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, et al. “Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.” Mol Genet Metab 93, no. 3 (March 2008): 275–81. https://doi.org/10.1016/j.ymgme.2007.09.006.
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    • Raju, G Praveen, Hsin-Chang Li, Deeksha S. Bali, Yuan-Tsong Chen, David K. Urion, Hart G. W. Lidov, and Peter B. Kang. “A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.” J Child Neurol 23, no. 3 (March 2008): 349–52. https://doi.org/10.1177/0883073807309248.
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    • Kallwass, H., C. Carr, J. Gerrein, M. Titlow, R. Pomponio, D. Bali, J. Dai, et al. “Erratum to "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots" [Mol. Genet. Metab. 90 (2007) 449-452] (DOI:10.1016/j.ymgme.2006.12.006).” Molecular Genetics and Metabolism 92, no. 3 (November 1, 2007): 285. https://doi.org/10.1016/j.ymgme.2006.12.014.
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    • Kallwass, Helmut, Cortney Carr, Joseph Gerrein, Mariah Titlow, Robert Pomponio, Deeksha Bali, Jian Dai, et al. “Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.” Mol Genet Metab 90, no. 4 (April 2007): 449–52. https://doi.org/10.1016/j.ymgme.2006.12.006.
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    • Demo, Erin, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney, Deeksha Bali, Y. T. Chen, and Priya S. Kishnani. “Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?” J Hepatol 46, no. 3 (March 2007): 492–98. https://doi.org/10.1016/j.jhep.2006.09.022.
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    • Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.” Neurology 68, no. 2 (January 9, 2007): 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04.
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    • Gregory, Brittany L., G Diane Shelton, Deeksha S. Bali, Yuan-Tsong Chen, and John C. Fyfe. “Glycogen storage disease type IIIa in curly-coated retrievers.” J Vet Intern Med 21, no. 1 (January 2007): 40–46. https://doi.org/10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2.
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    • Jennett, Alison M., Doru Bali, Pallavi Jasti, Bhavish Shah, and Linda A. Browning. “Telithromycin and myasthenic crisis.” Clin Infect Dis 43, no. 12 (December 15, 2006): 1621–22. https://doi.org/10.1086/509646.
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    • Kishnani, P. S., R. D. Steiner, D. Bali, K. Berger, B. J. Byrne, L. E. Case, J. F. Crowley, et al. “Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288)).” Genetics in Medicine 8, no. 6 (June 1, 2006): 382. https://doi.org/10.1097/00125817-200606000-00008.
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    • Jack, Rhona M., Cindy Gordon, C. R. Scott, Priya S. Kishnani, and Deeksha Bali. “The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.” Genet Med 8, no. 5 (May 2006): 307–12. https://doi.org/10.1097/01.gim.0000217785.19262.9e.
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    • Jones, Kerin, Manish Garg, Doru Bali, Roger Yang, and Scott Compton. “The knowledge and perceptions of medical personnel relating to outcome after cardiac arrest.” Resuscitation 69, no. 2 (May 2006): 235–39. https://doi.org/10.1016/j.resuscitation.2005.07.023.
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    • Kishnani, Priya S., Robert D. Steiner, Deeksha Bali, Kenneth Berger, Barry J. Byrne, Laura E. Case, John F. Crowley, et al. “Pompe disease diagnosis and management guideline.” Genet Med 8, no. 5 (May 2006): 267–88. https://doi.org/10.1097/01.gim.0000218152.87434.f3.
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    • Zhang, Haoyue, Helmut Kallwass, Sarah P. Young, Cortney Carr, Jian Dai, Priya S. Kishnani, David S. Millington, Joan Keutzer, Yuan-Tsong Chen, and Deeksha Bali. “Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.” Genet Med 8, no. 5 (May 2006): 302–6. https://doi.org/10.1097/01.gim.0000217781.66786.9b.
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    • Burrow, T Andrew, Robert J. Hopkin, Kevin E. Bove, Lili Miles, Brenda L. Wong, Arabinda Choudhary, Deeksha Bali, Sing Chung Li, and Yuan-Tsong Chen. “Non-lethal congenital hypotonia due to glycogen storage disease type IV.” Am J Med Genet A 140, no. 8 (April 15, 2006): 878–82. https://doi.org/10.1002/ajmg.a.31166.
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    • Ahmad, Ferhaan, Michael Arad, Nicolas Musi, Huamei He, Cordula Wolf, Dorothy Branco, Antonio R. Perez-Atayde, et al. “Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.” Circulation 112, no. 20 (November 15, 2005): 3140–48. https://doi.org/10.1161/CIRCULATIONAHA.105.550806.
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    • Das, B. B., M. R. Narkewicz, R. J. Sokol, Y. T. Chen, D. Bali, S. C. Li, M. R. Matthews, G. W. Mierau, and D. D. Ivy. “Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.” Pediatr Transplant 9, no. 2 (April 2005): 261–65. https://doi.org/10.1111/j.1399-3046.2005.00282.x.
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    • Franco, L. M., V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, et al. “Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.” J Inherit Metab Dis 28, no. 2 (2005): 153–62. https://doi.org/10.1007/s10545-005-7500-2.
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    • Young, Sarah P., Dietrich Matern, Niels Gregersen, Robert D. Stevens, Deeksha Bali, Hui-Ming Liu, Dwight D. Koeberl, and David S. Millington. “A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.” Clin Chim Acta 337, no. 1–2 (November 2003): 103–13. https://doi.org/10.1016/j.cccn.2003.07.006.
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    • Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.” Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.
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    • Matern, Dietrich, Hans Hermann Seydewitz, Deeksha Bali, Christine Lang, and Yuan-Tsong Chen. “Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.” Eur J Pediatr 161 Suppl 1 (October 2002): S10–19. https://doi.org/10.1007/s00431-002-0998-5.
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    • Bali, D., D. Casanova, C. Aharoni, N. Mutaftschiev, K. Cilirie, and R. Legré. “[Longitudinal melanic nail bands (melanonychia): report of 22 cases].” Chir Main 21, no. 4 (July 2002): 225–34. https://doi.org/10.1016/s1297-3203(02)00117-8.
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    • Chen, Yuan-Tsong, Deeksha Bali, and Jennifer Sullivan. “Prenatal diagnosis in glycogen storage diseases.” Prenat Diagn 22, no. 5 (May 2002): 357–59. https://doi.org/10.1002/pd.166.
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    • Casanova, D., D. Bali, J. Bardot, R. Legre, and G. Magalon. “Tissue expansion of the lower limb: complications in a cohort of 103 cases.” Br J Plast Surg 54, no. 4 (June 2001): 310–16. https://doi.org/10.1054/bjps.2001.3588.
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    • Bali, D., S. Gourley, D. D. Kostyu, N. Goel, I. Bruce, A. Bell, D. J. Walker, et al. “Genetic analysis of multiplex rheumatoid arthritis families.” Genes Immun 1, no. 1 (September 1999): 28–36. https://doi.org/10.1038/sj.gene.6363635.
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    • Goel, N., T. L. Ortel, D. Bali, J. P. Anderson, I. S. Gourley, H. Smith, C. A. Morris, et al. “Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.” Arthritis Rheum 42, no. 2 (February 1999): 318–27. https://doi.org/10.1002/1529-0131(199902)42:2<318::AID-ANR15>3.0.CO;2-5.
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    • Noone, P. G., D. Bali, J. L. Carson, A. Sannuti, C. L. Gipson, L. E. Ostrowski, P. A. Bromberg, R. C. Boucher, and M. R. Knowles. “Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.” Am J Med Genet 82, no. 2 (January 15, 1999): 155–60. https://doi.org/10.1002/(sici)1096-8628(19990115)82:2<155::aid-ajmg11>3.0.co;2-t.
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    • Amos, C. I., D. Bali, T. J. Thiel, J. P. Anderson, I. Gourley, M. L. Frazier, P. M. Lynch, et al. “Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.” Cancer Res 57, no. 17 (September 1, 1997): 3653–56.
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    • Bali, D., A. Svetlanov, H. W. Lee, D. Fusco-DeMane, M. Leiser, B. Li, N. Barzilai, M. Surana, H. Hou, and N. Fleischer. “Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.” J Biol Chem 270, no. 37 (September 15, 1995): 21464–67. https://doi.org/10.1074/jbc.270.37.21464.
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    • Singh, H., J. R. Singh, V. S. Dhillon, D. Bali, and H. Paul. “In vitro and in vivo genotoxicity evaluation of hormonal drugs. II. Dexamethasone.” Mutat Res 308, no. 1 (July 1, 1994): 89–97. https://doi.org/10.1016/0027-5107(94)90201-1.
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    • Zaret, K. S., P. Milos, M. Lia, D. Bali, and S. Gluecksohn-Waelsch. “Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions.” Proc Natl Acad Sci U S A 89, no. 14 (July 15, 1992): 6540–44. https://doi.org/10.1073/pnas.89.14.6540.
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    • Lia, M., D. Bali, and S. Gluecksohn-Waelsch. “Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase.” Proc Natl Acad Sci U S A 89, no. 6 (March 15, 1992): 2453–55. https://doi.org/10.1073/pnas.89.6.2453.
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    • DeFranco, D., D. Bali, R. Torres, R. A. DePinho, R. P. Erickson, and S. Gluecksohn-Waelsch. “The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression.” Proc Natl Acad Sci U S A 88, no. 13 (July 1, 1991): 5607–10. https://doi.org/10.1073/pnas.88.13.5607.
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    • DeFranco, D., D. Bali, R. Torres, R. A. DePinho, R. P. Erickson, and S. Gluecksohn-Waelsch. “Erratum: The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression (Proc. Natl. Acad. Sci. USA (July 1991) 88 (5607-5610)).” Proceedings of the National Academy of Sciences of the United States of America 88, no. 20 (January 1, 1991): 9375. https://doi.org/10.1073/pnas.88.20.9375a.
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    • Bali, D., J. R. Singh, H. Singh, and D. Sandhu. “In vitro and in vivo genotoxicity evaluation of hormonal drugs. I. Hydrocortisone.” Environ Mol Mutagen 16, no. 4 (1990): 250–54. https://doi.org/10.1002/em.2850160406.
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  • Book Sections

    • Bali, D. S., S. Austin, and Y. T. Chen. “Prenatal Diagnosis of Disorders of Carbohydrate Metabolism.” In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Seventh Edition, 903–26, 2016. https://doi.org/10.1002/9781118981559.ch24.
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    • Millington, D. S., R. Sista, D. Bali, A. E. Eckhardt, and V. Pamula. “Development of Biomarker Assays for Clinical Diagnostics Using a Digital Microfluidics Platform.” In Dried Blood Spots: Applications and Techniques, 9781118054697:325–31, 2014. https://doi.org/10.1002/9781118890837.ch25.
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  • Conference Papers

    • Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, Catherine W. Rehder, Susan Richards, Amy S. Rosenberg, and Priya S. Kishnani. “Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience.” In Molecular Genetics and Metabolism, 126:S48–S48. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.106.
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    • Young, Sarah P., Jennifer L. Goldstein, Kathryn Berrier Sheets, Katherine M. Chistensen, David Kronn, Marwan Shinawi, Andrea M. Atherton, et al. “Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening.” In Molecular Genetics and Metabolism, 114:321–22. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2015.
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    • Sheets, Kathryn B., Priya S. Kishnani, Zoheb Kazi, Stephanie M. DeArmey, Deeksha S. Bali, Jian Dai, and Catherine W. Rehder. “The emerging natural history of cross-reactive immunologic material (CRIM)-negative infantile Pompe disease patients treated with recombinant human GAA.” In Molecular Genetics and Metabolism, 111:S97–S97. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.237.
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    • Goldstein, J. L., S. P. Young, M. Changela, G. H. Dickerson, H. Zhang, J. Dai, D. Peterson, D. S. Millington, P. S. Kishnani, and D. S. Bali. “LABORATORY EXPERIENCE OF USING DRIED BLOOD SPOT ASSAY TO DIAGNOSE POMPE DISEASE.” In Muscle & Nerve, 40:708–9. JOHN WILEY & SONS INC, 2009.
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    • Raju, G. P., S. -. C. Li, D. S. Bali, J. Anderson, K. R. McAlmon, H. B. Kim, M. M. Jonas, et al. “G.P.1 05 The clinical spectrum of glycogen storage disease type IV (Andersen disease).” In Neuromuscular Disorders, 16:655–655. Elsevier BV, 2006. https://doi.org/10.1016/j.nmd.2006.05.051.
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    • Bali, D. S., A. J. McVie-Wylie, J. Dai, and Y. T. Chen. “Investigation of the role of mannose-6-phosphate receptor (MPR300) in enzyme uptake and glycogen clearance in Pompe disease.” In American Journal of Human Genetics, 73:621–621. UNIV CHICAGO PRESS, 2003.
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    • Matern, D., H. H. Seydewitz, D. Bali, C. Lang, and Y. T. Chen. “Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation.” In European Journal of Pediatrics, Supplement, 161:S10–19, 2002. https://doi.org/10.1007/bf02679989.
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