Trainee Publications


Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 Jan;182(1):38-52. doi: 10.1002/ajmg.a.61380. Epub 2019 Nov 29. PMID: 31782611; PMCID: PMC7713511.

Latchman K, Nieto-Moreno M, Alberola RL. Spastic Diplegia in a Haitian Girl with Angelman Syndrome. J Pediatr Genet. 2020 Jun;9(2):104-108. doi: 10.1055/s-0039-1697029. Epub 2019 Sep 23. PMID: 32341813; PMCID: PMC7183405.


Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS. Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med. 2019 Dec;21(12):2686-2694. doi: 10.1038/s41436-019-0561-7. Epub 2019 Jul 2. PMID: 31263214.

Potnis KC, Flueckinger LB, Ha CI, Upadia J, Frush DP, Kishnani PS. Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy. Mol Genet Metab. 2019 Feb;126(2):157-161. doi: 10.1016/j.ymgme.2018.11.004. Epub 2018 Nov 9. PMID: 30448006.


Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P. Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a002758. doi: 10.1101/mcs.a002758. PMID: 30275001; PMCID: PMC6169830.

Mori M, Kurokawa N, Worley G. Speculation on the naming of Moyamoya disease. J Neuroradiol. 2018 Jul;45(4):261-262. doi: 10.1016/j.neurad.2018.03.004. Epub 2018 Apr 3. PMID: 29625155.


Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20. PMID: 28317311; PMCID: PMC5515470.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4. PMID: 27142047; PMCID: PMC5388642.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17. PMID: 29122469; PMCID: PMC5907499.

Tan QK, Cardona DM, Rehder CW, McDonald MT. Identification of EPCAM mutation: clinical use of microarray. Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. PMID: 28588851; PMCID: PMC5457984.

Tan QK, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002063. doi: 10.1101/mcs.a002063. PMID: 28729373; PMCID: PMC5701308.


Mori M, DeArmey SL, Weber TJ, Kishnani PS. Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth. Bone Rep. 2016 Aug 26;5:228-232. doi: 10.1016/j.bonr.2016.08.004. PMID: 28580391; PMCID: PMC5440952.


Chien YH, Goldstein JL, Hwu WL, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. JIMD Rep. 2015;19:67-73. doi: 10.1007/8904_2014_366. Epub 2015 Feb 15. PMID: 25681082; PMCID: PMC4501239.

Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD. Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis. Mol Genet Metab Rep. 2015 Jun 30;4:39-41. doi: 10.1016/j.ymgmr.2015.06.001. PMID: 26937408; PMCID: PMC4750615.

Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. Premature pubarche in children with Pompe disease. J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14. PMID: 25687635.


Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS. Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol. 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82. PMID: 24201678.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16. PMID: 23583224.

Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS. Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab. 2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27. PMID: 23318145.

Tan QK, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013 Feb;108(2):142-4. doi: 10.1016/j.ymgme.2012.11.013. Epub 2012 Nov 29. PMID: 23266370.


Austin SL, Proia AD, Spencer-Manzon MJ, Butany J, Wechsler SB, Kishnani PS. Cardiac Pathology in Glycogen Storage Disease Type III. JIMD Rep. 2012;6:65-72. doi: 10.1007/8904_2011_118. Epub 2012 Jan 31. PMID: 23430941; PMCID: PMC3565657.

Clark PJ, Thompson AJ, Vock DM, Kratz LE, Tolun AA, Muir AJ, McHutchison JG, Subramanian M, Millington DM, Kelley RI, Patel K. Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner. Hepatology. 2012 Jul;56(1):49-56. doi: 10.1002/hep.25631. Epub 2012 Jun 5. PMID: 22318926.

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21. PMID: 22227323.

Tolun AA, Scarbrough PM, Zhang H, McKillop JA, Wang F, Kishnani PS, Millington DS, Young SP, Il'yasova D. Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome. Ann Epidemiol. 2012 Dec;22(12):892-4. doi: 10.1016/j.annepidem.2012.09.005. Epub 2012 Oct 11. PMID: 23063134; PMCID: PMC3508197.


Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933. PMID: 21484825.

El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab. 2011 Aug;103(4):362-6. doi: 10.1016/j.ymgme.2011.04.009. Epub 2011 May 5. PMID: 21605996.
*Recipient of the SIMD Emmanuel Shapira Award for Best Article in Molecular Genetics and Metabolism

El-Gharbawy AH, Boney A, Young SP, Kishnani PS. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011 Feb;102(2):214-5. doi: 10.1016/j.ymgme.2010.11.001. Epub 2010 Nov 9. PMID: 21130013.

El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, Conway R, Kishnani PS. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab. 2011 Sep-Oct;104(1-2):118-22. doi: 10.1016/j.ymgme.2011.07.004. Epub 2011 Jul 13. PMID: 21802969; PMCID: PMC3711228.

Il'yasova D, Kennedy K, Spasojevic I, Wang F, Tolun AA, Base K, Young SP, Kelly Marcom P, Marks J, Millington DS, Dewhirst MW. Individual responses to chemotherapy-induced oxidative stress. Breast Cancer Res Treat. 2011 Jan;125(2):583-9. doi: 10.1007/s10549-010-1158-7. Epub 2010 Sep 10. PMID: 20830514; PMCID: PMC3500598.

Sista RS, Eckhardt AE, Wang T, Graham C, Rouse JL, Norton SM, Srinivasan V, Pollack MG, Tolun AA, Bali D, Millington DS, Pamula VK. Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22. PMID: 21859904.

Smith EC, El-Gharbawy A, Koeberl DD. Metabolic myopathies: clinical features and diagnostic approach. Rheum Dis Clin North Am. 2011 May;37(2):201-17, vi. doi: 10.1016/j.rdc.2011.01.004. PMID: 21444020.


Il'yasova D, Spasojevic I, Wang F, Tolun AA, Base K, Young SP, Marcom PK, Marks J, Mixon G, DiGiulio R, Millington DS. Urinary biomarkers of oxidative status in a clinical model of oxidative assault. Cancer Epidemiol Biomarkers Prev. 2010 Jun;19(6):1506-10. doi: 10.1158/1055-9965.EPI-10-0211. Epub 2010 May 25. PMID: 20501773; PMCID: PMC2883001.

Tolun AA, Zhang H, Il'yasova D, Sztáray J, Young SP, Millington DS. Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry. Anal Biochem. 2010 Jul 15;402(2):191-3. doi: 10.1016/j.ab.2010.03.033. Epub 2010 Mar 31. PMID: 20361921; PMCID: PMC3595192.


Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol. 2007 May;37(5):437-45. doi: 10.1007/s00247-007-0428-y. Epub 2007 Mar 7. PMID: 17342521.


Hanna R, McDonald MT, Sullivan JA, Mackey JF, Krishnamurthy V, Kishnani PS. Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. J Inherit Metab Dis. 2004;27(5):687-90. doi: 10.1023/b:boli.0000043027.80328.75. PMID: 15669686