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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H; PRISM investigators. Thomas J, et al. Among authors: amato s. Mol Genet Metab. 2018 May;124(1):27-38. doi: 10.1016/j.ymgme.2018.03.006. Epub 2018 Mar 31. Mol Genet Metab. 2018. PMID: 29653686 Free article. Clinical Trial.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: amato s. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
Increased LIS1 expression affects human and mouse brain development.
Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Bi W, et al. Among authors: amato ss. Nat Genet. 2009 Feb;41(2):168-77. doi: 10.1038/ng.302. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136950 Free PMC article.
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Ben-Shachar S, et al. Among authors: amato s. J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289393 Free PMC article.
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: amato s. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. Dittwald P, et al. Among authors: amato s. Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8. Genome Res. 2013. PMID: 23657883 Free PMC article.
Measurement of CP Violation Observables in D^{+}→K^{-}K^{+}π^{+} Decays.
Aaij R, Abdelmotteleb ASW, Abellan Beteta C, Abudinén F, Ackernley T, Adefisoye AA, Adeva B, Adinolfi M, Adlarson P, Agapopoulou C, Aidala CA, Ajaltouni Z, Akar S, Akiba K, Albicocco P, Albrecht J, Alessio F, Alexander M, Aliouche Z, Alvarez Cartelle P, Amalric R, Amato S, Amey JL, Amhis Y, An L, Anderlini L, Andersson M, Andreianov A, Andreola P, Andreotti M, Andreou D, Anelli A, Ao D, Archilli F, Argenton M, Arguedas Cuendis S, Artamonov A, Artuso M, Aslanides E, Ataíde Da Silva R, Atzeni M, Audurier B, Bacher D, Bachiller Perea I, Bachmann S, Bachmayer M, Back JJ, Baladron Rodriguez P, Balagura V, Baldini W, Balzani L, Bao H, Baptista de Souza Leite J, Barbero Pretel C, Barbetti M, Barbosa IR, Barlow RJ, Barnyakov M, Barsuk S, Barter W, Bartolini M, Bartz J, Basels JM, Bashir S, Bassi G, Batsukh B, Battista PB, Bay A, Beck A, Becker M, Bedeschi F, Bediaga IB, Behling NB, Belin S, Bellee V, Belous K, Belov I, Belyaev I, Benane G, Bencivenni G, Ben-Haim E, Berezhnoy A, Bernet R, Bernet Andres S, Bertolin A, Betancourt C, Betti F, Bex J, Bezshyiko I, Bhom J, Bieker MS, Biesuz NV, Billoir P, Biolchini A, Birch M, Bishop FCR, Bitadze A, Bizzeti A, Blake T, Blanc F, Blank JE, … See abstract for full author list ➔ Aaij R, et al. Among authors: amato s. Phys Rev Lett. 2024 Dec 20;133(25):251801. doi: 10.1103/PhysRevLett.133.251801. Phys Rev Lett. 2024. PMID: 39752695
Determinants of delayed healthcare access and stigma associated with pandemic SARS-CoV-2 infec-tion: findings from a pilot study in the immigrant population in Catania (Sicily Region, Southern Italy).
Barchitta M, Colloca C, Giorgianni G, Cuccia M, Pantaleo V, Campisi E, Ojeda-Granados C, Manoli M, Leonardi A, Cernigliaro A, D'Amato S, Agodi A. Barchitta M, et al. Among authors: d amato s. Epidemiol Prev. 2024 Jul-Oct;48(4-5):90-100. doi: 10.19191/EP24.4-5.S1.118. Epidemiol Prev. 2024. PMID: 39431391 Free article. English.
646 results