My Bibliography

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Butchbach MER, Kale JJ, Simeone SD, Chen JYH, Anderson RL, Prichina AY, Del Gaudio D, Stabley DL, Holbrook J, Culcea E, Ober C, Swoboda KJ. Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies. Genet Med. 2026 Apr;28(4):102535. doi: 10.1016/j.gim.2026.102535. Epub 2026 Feb 12. PubMed PMID: 41691542; PubMed Central PMCID: PMC13449057.

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Chang GY, Cox CA, Kane EA, Tye GP, Fawcett P, Shaffer TH. Comparison of stress-induced hemolysis in neonatal intravenous catheters: Theoretical and experimental analysis of shear stress, exposure time, and index of hemolysis. J Neonatal Perinatal Med. 2025 May;18(3):255-269. doi: 10.1177/19345798251326071. Epub 2025 Mar 21. PubMed PMID: 40116425.

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Kovatis K, Mackley A, Traczykiewicz S, Subedi K, Rahman T, Shaffer TH. Oxygen saturation and work of breathing indices in preterm infants with bronchopulmonary dysplasia compared to healthy preterm infants at discharge. J Neonatal Perinatal Med. 2024;17(4):589-595. doi: 10.3233/NPM-230222. PubMed PMID: 38968059.

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Yue X, Stauff E, Boyapati S, Langhans SA, Xu W, Makrogiannis S, Okorie UJ, Okorie AM, Kandula VVR, Kecskemethy HH, Nikam RM, Averill LW, Shaffer TH. PET Imaging of Neurofibromatosis Type 1 with a Fluorine-18 Labeled Tryptophan Radiotracer. Pharmaceuticals (Basel). 2024 May 27;17(6). doi: 10.3390/ph17060685. PubMed PMID: 38931352; PubMed Central PMCID: PMC11206478.

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Hestvik A, Morlet T, Nagao K, Han C. Auditory Processing Disorder Targets Phonetics, Not Phonology. Proc Annu Boston Univ Conf Lang Dev. 2023;2023(1):356-365. PubMed PMID: 37560553; PubMed Central PMCID: PMC10410628.

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Gable M, Shaffer TH, Locke R, Mackley A, Kovatis KZ. The impact of kangaroo mother care on work of breathing and oxygen saturation in very low birth weight infants with respiratory insufficiency. J Neonatal Perinatal Med. 2023;16(1):141-150. doi: 10.3233/NPM-221068. PubMed PMID: 36314219.

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Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 Jun 26;13(1):10374. doi: 10.1038/s41598-023-37496-0. PubMed PMID: 37365234; PubMed Central PMCID: PMC10293174.

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Lutz J, Levenbrown Y, Hossain MJ, Hesek A, Massa KE, Keith JP, Shaffer TH. Impact of intravenous fluid administration on cardiac output and oxygenation during cardiopulmonary resuscitation. Intensive Care Med Exp. 2023 Mar 24;11(1):13. doi: 10.1186/s40635-023-00497-4. PubMed PMID: 36959337; PubMed Central PMCID: PMC10036707.

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Miller TL, Raab LM, Shaffer TH, Schweikert A, Diana F, Fort P, Frum AS, Pergolizzi J, Raffa RB. A Novel Agnostic Respiratory Stimulant as a Treatment for Apnea of Prematurity: A Proof-of-Concept Study. Cureus. 2022 Sep;14(9):e28900. doi: 10.7759/cureus.28900. eCollection 2022 Sep. PubMed PMID: 36237747; PubMed Central PMCID: PMC9544529.

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Kanda S, Moulton E, Butchbach MER. Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. Mol Pharmacol. 2022 Aug;102(2):92-105. doi: 10.1124/molpharm.122.000529. Epub 2022 Jun 6. PubMed PMID: 35667685; PubMed Central PMCID: PMC9341265.

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Murala DK, Levenbrown Y, Xiao W, Hossain J, Shaffer TH. Utilising pneuRIP device in determining the adequacy of respiratory support when weaning high-flow nasal cannula in paediatric patients with acute respiratory distress: A pilot study. J Paediatr Child Health. 2022 Sep;58(9):1548-1553. doi: 10.1111/jpc.16031. Epub 2022 Jun 2. PubMed PMID: 35652438.

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Pinto A, Cunha C, Chaves R, Butchbach MER, Adega F. Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy. Biology (Basel). 2022 May 27;11(6). doi: 10.3390/biology11060824. PubMed PMID: 35741345; PubMed Central PMCID: PMC9219815.

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Alapati D, Shaffer TH. Administration of Drugs/Gene Products to the Respiratory System: A Historical Perspective of the Use of Inert Liquids. Front Physiol. 2022;13:871893. doi: 10.3389/fphys.2022.871893. eCollection 2022. Review. PubMed PMID: 35620598; PubMed Central PMCID: PMC9127416.

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Morlet T, Robbins KM, Stabley D, Holbrook J, University of Washington Center for Mendelian Genomics, Sol-Church K, O'Reilly RC. Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder. Otolaryngol Case Rep. 2021 Nov;21. doi: 10.1016/j.xocr.2021.100367. Epub 2021 Oct 9. PubMed PMID: 35875410; PubMed Central PMCID: PMC9307087.

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Sidhu I, Barwe SP, Kiick KL, Kolb EA, Gopalakrishnapillai A. A 3-D hydrogel based system for hematopoietic differentiation and its use in modeling down syndrome associated transient myeloproliferative disorder. Biomater Sci. 2021 Sep 14;9(18):6266-6281. doi: 10.1039/d1bm00442e. PubMed PMID: 34369483; PubMed Central PMCID: PMC8570143.

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Amendum PC, Khan S, Yamaguchi S, Kobayashi H, Ago Y, Suzuki Y, Celik B, Rintz E, Hossain J, Xiao W, Tomatsu S. Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders. Diagnostics (Basel). 2021 Aug 28;11(9). doi: 10.3390/diagnostics11091563. PubMed PMID: 34573906; PubMed Central PMCID: PMC8468223.

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Arunkumar N, Vu DC, Khan S, Kobayashi H, Ngoc Can TB, Oguni T, Watanabe J, Tanaka M, Yamaguchi S, Taketani T, Ago Y, Ohnishi H, Saikia S, Álvarez JV, Tomatsu S. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Diagnostics (Basel). 2021 Jul 27;11(8). doi: 10.3390/diagnostics11081347. PubMed PMID: 34441282; PubMed Central PMCID: PMC8394749.

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Ratnagiri MV, Zhu Y, Rahman T, Theroux M, Tomatsu S, Shaffer TH. Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome. Diagnostics (Basel). 2021 May 15;11(5). doi: 10.3390/diagnostics11050880. PubMed PMID: 34063456; PubMed Central PMCID: PMC8156300.

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Hossain MJ, Xiao W, Tayeb M, Khan S. Epidemiology and prognostic factors of pediatric brain tumor survival in the US: Evidence from four decades of population data. Cancer Epidemiol. 2021 Jun;72:101942. doi: 10.1016/j.canep.2021.101942. Epub 2021 May 1. PubMed PMID: 33946020; PubMed Central PMCID: PMC8142618.

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Kovatis KZ, Locke RG, Mackley AB, Subedi K, Shaffer TH. Adjustment of high flow nasal cannula rates using real-time work of breathing indices in premature infants with respiratory insufficiency. J Perinatol. 2021 Jul;41(7):1711-1717. doi: 10.1038/s41372-021-00977-z. Epub 2021 Mar 4. PubMed PMID: 33664469; PubMed Central PMCID: PMC8867510.

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Shrestha D, Ye GX, Stabley D, Betal SGN, Zhu Y, Glazewski L, Holbrook J, Sethi M, Hesek A, Shaffer TH, Aghai ZH, Addya S, Alapati D. Pulmonary immune cell transcriptome changes in double-hit model of BPD induced by chorioamnionitis and postnatal hyperoxia. Pediatr Res. 2021 Sep;90(3):565-575. doi: 10.1038/s41390-020-01319-z. Epub 2021 Jan 14. PubMed PMID: 33446917; PubMed Central PMCID: PMC7808307.

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Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 Mar;22(1):53-64. doi: 10.1007/s10048-020-00630-5. Epub 2021 Jan 7. PubMed PMID: 33415588; PubMed Central PMCID: PMC12712851.

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Halakos EG, Connell AJ, Glazewski L, Wei S, Mason RW. Bottom up proteomics identifies neuronal differentiation pathway networks activated by cathepsin inhibition treatment in neuroblastoma cells that are enhanced by concurrent 13-cis retinoic acid treatment. J Proteomics. 2021 Feb 10;232:104068. doi: 10.1016/j.jprot.2020.104068. Epub 2020 Dec 2. PubMed PMID: 33278663; PubMed Central PMCID: PMC7814974.

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Sawamoto K, Álvarez JV, Herreño AM, Otero-Espinar FJ, Couce ML, Alméciga-Díaz CJ, Tomatsu S. Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders. Curr Osteoporos Rep. 2020 Oct;18(5):515-525. doi: 10.1007/s11914-020-00620-4. Review. PubMed PMID: 32845464; PubMed Central PMCID: PMC7541793.

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Barnum CE, Al Saai S, Patel SD, Cheng C, Anand D, Xu X, Dash S, Siddam AD, Glazewski L, Paglione E, Polson SW, Chuma S, Mason RW, Wei S, Batish M, Fowler VM, Lachke SA. The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology. Hum Mol Genet. 2020 Jul 29;29(12):2076-2097. doi: 10.1093/hmg/ddaa096. PubMed PMID: 32420594; PubMed Central PMCID: PMC7390939.

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Ratnagiri MV, Ryan L, Strang A, Heinle R, Rahman T, Shaffer TH. Machine learning for automatic identification of thoracoabdominal asynchrony in children. Pediatr Res. 2021 Apr;89(5):1232-1238. doi: 10.1038/s41390-020-1032-1. Epub 2020 Jul 3. PubMed PMID: 32620007; PubMed Central PMCID: PMC10843835.

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Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet. 2020 Jul;65(7):557-567. doi: 10.1038/s10038-020-0744-8. Epub 2020 Apr 10. Review. PubMed PMID: 32277174.

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Khan SA, Mason RW, Kobayashi H, Yamaguchi S, Tomatsu S. Advances in glycosaminoglycan detection. Mol Genet Metab. 2020 Jun;130(2):101-109. doi: 10.1016/j.ymgme.2020.03.004. Epub 2020 Mar 27. Review. PubMed PMID: 32247585; PubMed Central PMCID: PMC7198342.

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Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. PubMed PMID: 31448840; PubMed Central PMCID: PMC6953250.

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Halakos EG, Connell AJ, Glazewski L, Wei S, Mason RW. Bottom up proteomics reveals novel differentiation proteins in neuroblastoma cells treated with 13-cis retinoic acid. J Proteomics. 2019 Oct 30;209:103491. doi: 10.1016/j.jprot.2019.103491. Epub 2019 Aug 28. PubMed PMID: 31472280; PubMed Central PMCID: PMC7079284.

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Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Tomatsu S. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019 Nov;64(11):1153-1171. doi: 10.1038/s10038-019-0662-9. Epub 2019 Aug 27. Review. PubMed PMID: 31455839.

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Di Guglielmo MD, Franke K, Cox C, Crowgey EL. Whole genome metagenomic analysis of the gut microbiome of differently fed infants identifies differences in microbial composition and functional genes, including an absent CRISPR/Cas9 gene in the formula-fed cohort. Hum Microb J. 2019 Jun;12. doi: 10.1016/j.humic.2019.100057. Epub 2019 May 25. PubMed PMID: 34278055; PubMed Central PMCID: PMC8281965.

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Taylor M, Khan S, Stapleton M, Wang J, Chen J, Wynn R, Yabe H, Chinen Y, Boelens JJ, Mason RW, Kubaski F, Horovitz DDG, Barth AL, Serafini M, Bernardo ME, Kobayashi H, Orii KE, Suzuki Y, Orii T, Tomatsu S. Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future. Biol Blood Marrow Transplant. 2019 Jul;25(7):e226-e246. doi: 10.1016/j.bbmt.2019.02.012. Epub 2019 Feb 14. Review. PubMed PMID: 30772512; PubMed Central PMCID: PMC6615945.

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Morlet T, Nagao K, Greenwood LA, Cardinale RM, Gaffney RG, Riegner T. Auditory event-related potentials and function of the medial olivocochlear efferent system in children with auditory processing disorders. Int J Audiol. 2019 Apr;58(4):213-223. doi: 10.1080/14992027.2018.1551632. Epub 2019 Jan 25. PubMed PMID: 30682902; PubMed Central PMCID: PMC6430672.

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Shrestha S, Phay M, Kim HH, Pouladvand P, Lee SJ, Yoo S. Differential regulation of brain-derived neurotrophic factor (BDNF) expression in sensory neuron axons by miRNA-206. FEBS Open Bio. 2019 Feb;9(2):374-383. doi: 10.1002/2211-5463.12581. eCollection 2019 Feb. PubMed PMID: 30761261; PubMed Central PMCID: PMC6356166.

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Butchbach MER. Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy. Adv Neurobiol. 2018;21:267-281. doi: 10.1007/978-3-319-94593-4_10. Review. PubMed PMID: 30334226; PubMed Central PMCID: PMC6482380.

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Nagao K, Bullard AS, Pasko LE, Pereira O, Walter C, Hammond M, Pellicori-Curry J, Morlet T. Tablet-Based Hearing Test Among Child Clinical Populations: Performance and Preference. Telemed J E Health. 2019 Oct;25(10):973-978. doi: 10.1089/tmj.2018.0163. Epub 2018 Oct 25. PubMed PMID: 30359209; PubMed Central PMCID: PMC6784491.

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Ayrapetyan M, Talekar K, Schwabenbauer K, Carola D, Solarin K, McElwee D, Adeniyi-Jones S, Greenspan J, Aghai ZH. Apgar Scores at 10 Minutes and Outcomes in Term and Late Preterm Neonates with Hypoxic-Ischemic Encephalopathy in the Cooling Era. Am J Perinatol. 2019 Apr;36(5):545-554. doi: 10.1055/s-0038-1670637. Epub 2018 Sep 12. PubMed PMID: 30208498; PubMed Central PMCID: PMC8039809.

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Ayrapetyan M, Carola D, Lakshminrusimha S, Bhandari V, Aghai ZH. Infants Born to Mothers with Clinical Chorioamnionitis: A Cross-Sectional Survey on the Use of Early-Onset Sepsis Risk Calculator and Prolonged Use of Antibiotics. Am J Perinatol. 2019 Mar;36(4):428-433. doi: 10.1055/s-0038-1668548. Epub 2018 Aug 21. PubMed PMID: 30130819; PubMed Central PMCID: PMC8631007.

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Khan SA, Mason RW, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018 Sep;125(1-2):44-52. doi: 10.1016/j.ymgme.2018.04.011. Epub 2018 May 17. PubMed PMID: 29779903; PubMed Central PMCID: PMC6175648.

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Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Review. PubMed PMID: 29779902; PubMed Central PMCID: PMC6175643.

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Pereira O, Pasko LE, Supinski J, Hammond M, Morlet T, Nagao K. Is there a clinical application for tablet-based automated audiometry in children?. Int J Pediatr Otorhinolaryngol. 2018 Jul;110:87-92. doi: 10.1016/j.ijporl.2018.04.029. Epub 2018 May 3. PubMed PMID: 29859595.

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Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S. Growth impairment in mucopolysaccharidoses. Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16. Review. PubMed PMID: 29627275; PubMed Central PMCID: PMC5966322.

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Xie S, Hossain MJ. Survival differences in childhood and young adult acute myeloid leukemia: A cross-national study using US and England data. Cancer Epidemiol. 2018 Jun;54:19-24. doi: 10.1016/j.canep.2018.03.001. Epub 2018 Mar 16. PubMed PMID: 29554538; PubMed Central PMCID: PMC5971133.

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Nagao K, Morlet T, Haley E, Padilla J, Nemith J, Mason RW, Tomatsu S. Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. Mol Genet Metab. 2018 Apr;123(4):472-478. doi: 10.1016/j.ymgme.2018.02.002. Epub 2018 Feb 8. PubMed PMID: 29472067; PubMed Central PMCID: PMC5891367.

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Doherty C, Kubaski F, Tomatsu S, Shaffer TH. Non-invasive pulmonary function test on Morquio patients. J Rare Dis Res Treat. 2017;2(2):55-62. PubMed PMID: 30294725; PubMed Central PMCID: PMC6171363.

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Sawamoto K, Chen HH, Alméciga-Díaz CJ, Mason RW, Tomatsu S. Gene therapy for Mucopolysaccharidoses. Mol Genet Metab. 2018 Feb;123(2):59-68. doi: 10.1016/j.ymgme.2017.12.434. Epub 2017 Dec 26. Review. PubMed PMID: 29295764; PubMed Central PMCID: PMC5986190.

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Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, Tomatsu S. Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep. 2018 Mar;14:59-67. doi: 10.1016/j.ymgmr.2017.11.005. eCollection 2018 Mar. PubMed PMID: 29326877; PubMed Central PMCID: PMC5758848.

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Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M. Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 Aug 25;7(1):9473. doi: 10.1038/s41598-017-09958-9. PubMed PMID: 28842642; PubMed Central PMCID: PMC5573317.

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Alapati D, Shaffer TH. Skeletal dysplasia: Respiratory management during infancy. Respir Med. 2017 Oct;131:18-26. doi: 10.1016/j.rmed.2017.07.063. Epub 2017 Aug 1. Review. PubMed PMID: 28947027; PubMed Central PMCID: PMC5659738.