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Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, Tucker S, Zhang Y, McElwee JJ, Pao M, Glover SC, Rothenberg ME, Hohman RJ, Stone KD, Caughey GH, Heller T, Metcalfe DD, Biesecker LG, Schwartz LB, Milner JD. Lyons JJ, et al. Among authors: pao m. Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17. Nat Genet. 2016. PMID: 27749843 Free PMC article.
CNS manifestations in patients with telomere biology disorders.
Bhala S, Best AF, Giri N, Alter BP, Pao M, Gropman A, Baker EH, Savage SA. Bhala S, et al. Among authors: pao m. Neurol Genet. 2019 Oct 29;5(6):370. doi: 10.1212/NXG.0000000000000370. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872047 Free PMC article.
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. O'Shea CJ, et al. Among authors: pao m. Pediatrics. 2012 Jun;129(6):e1541-51. doi: 10.1542/peds.2011-1715. Epub 2012 May 21. Pediatrics. 2012. PMID: 22614770 Free PMC article. Clinical Trial.
CD40 ligand deficiency: neurologic sequelae with radiographic correlation.
Bishu S, Madhavan D, Perez P, Civitello L, Liu S, Fessler M, Holland SM, Jain A, Pao M. Bishu S, et al. Among authors: pao m. Pediatr Neurol. 2009 Dec;41(6):419-27. doi: 10.1016/j.pediatrneurol.2009.07.003. Pediatr Neurol. 2009. PMID: 19931163 Free PMC article.
143 results