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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Among authors: levin av. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D. Kline AD, et al. Among authors: levin av. Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504889
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: levin av. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Ophthalmologic findings in the Cornelia de Lange Syndrome.
Wygnanski-Jaffe T, Shin J, Perruzza E, Abdolell M, Jackson LG, Levin AV. Wygnanski-Jaffe T, et al. Among authors: levin av. J AAPOS. 2005 Oct;9(5):407-15. doi: 10.1016/j.jaapos.2005.05.010. J AAPOS. 2005. PMID: 16213388
Ocular manifestations of Emanuel syndrome.
Saffren BD, Capasso JE, Zanolli M, Levin AV. Saffren BD, et al. Among authors: levin av. Am J Med Genet A. 2018 Sep;176(9):1964-1967. doi: 10.1002/ajmg.a.40361. Epub 2018 Sep 4. Am J Med Genet A. 2018. PMID: 30178914
Stargardt misdiagnosis: How ocular genetics helps.
Ibanez MB 4th, de Guimarães TAC, Capasso J, Bello N, Levin AV. Ibanez MB 4th, et al. Among authors: levin av. Am J Med Genet A. 2021 Mar;185(3):814-819. doi: 10.1002/ajmg.a.62045. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369172
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Among authors: levin av. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
303 results