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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.
Anirdia-like phenotype caused by 6p25 dosage aberrations.
Sadagopan KA, Liu GT, Capasso JE, Wuthisiri W, Keep RB, Levin AV. Sadagopan KA, et al. Among authors: levin av. Am J Med Genet A. 2015 Mar;167A(3):524-8. doi: 10.1002/ajmg.a.36890. Am J Med Genet A. 2015. PMID: 25691405
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
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: levin av. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
310 results