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Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Cervantes-Barragán DE, et al. Among authors: yang a. J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251. J Med Genet. 2011. PMID: 21931173
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Among authors: yang a. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.
Parkinson's disease prevalence in Fabry disease: A survey study.
Wise AH, Yang A, Naik H, Stauffer C, Zeid N, Liong C, Balwani M, Desnick RJ, Alcalay RN. Wise AH, et al. Among authors: yang a. Mol Genet Metab Rep. 2017 Nov 9;14:27-30. doi: 10.1016/j.ymgmr.2017.10.013. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29159076 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: yang ac. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
6,093 results