Dotan G, Khetan V, Marshall JD, Affel E, Armiger-George D, Naggert JK, Collin GB, Levin AV., Spectral-domain optical coherence tomography findings in Alström syndrome. Ophthalmic Genet. 2017 Jan 23:1-6. doi: 10.1080/13816810.2016.1257029. [Epub ahead of print]
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M.. Respiratory manifestations in 38 patients with Alström syndrome. Pediatr Pulmonol 2016 Dec 28. doi: 10.1002/ppul.23607. [Epub ahead of print]
Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S., Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. Eur J Med Genet. 2016 Sep;59(9):444-51. doi: 10.1016/j.ejmg.2016.08.004.
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R., Pituitary morphovolumetric changes in Alström syndrome. J Neuroradiol. 2016 Jun;43(3):195-9. doi: 10.1016/j.neurad.2015.10.005.
Frölander HE, Möller C, Rudner M, Mishra S, Marshall JD, Piacentini H, Lyxell B., Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability. Front Psychol. 2015 Sep 23;6:1426. doi: 10.3389/fpsyg. 2015.01426.
Nadol JB Jr, Marshall JD, Bronson RT., Audiol Neurootol., Histopathology of the human inner ear in Alström’s syndrome. 2015;20(4):267-72. doi: 10.1159/000381935. Orphanet J Rare Dis. 2015 Jun 24;10:83. doi: 10.1186/s13023-015-0292-z.
Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK., Alström Syndrome: Mutation Spectrum of ALMS1. Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796.
Butler MG, Wang K, Marshall JD, Naggert JK, Rethmeyer JA, Gunewardena SS, Manzardo AM., Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes. Adv Genomics Genet. 2015;2015(5):53-75.
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK., The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. J Hum Genet. 2015 Jan;60(1):51. doi: 10.1038/jhg.2014.101. No abstract available.
“It is difficult to say what is impossible, for the dreams of yesterday are the hopes of today and the reality of tomorrow.” ~Robert H. Goddard