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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S. Becker LL, et al. Among authors: abdin d. J Hum Genet. 2020 Nov;65(11):1003-1017. doi: 10.1038/s10038-020-0803-1. Epub 2020 Aug 12. J Hum Genet. 2020. PMID: 32788638 Free PMC article.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. Lee S, et al. Among authors: abdin d. Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013. Am J Hum Genet. 2019. PMID: 31585108 Free PMC article.
Parental mosaicism in epilepsies due to alleged de novo variants.
Møller RS, Liebmann N, Larsen LHG, Stiller M, Hentschel J, Kako N, Abdin D, Di Donato N, Pal DK, Zacher P, Syrbe S, Dahl HA, Lemke JR. Møller RS, et al. Among authors: abdin d. Epilepsia. 2019 Jun;60(6):e63-e66. doi: 10.1111/epi.15187. Epub 2019 May 11. Epilepsia. 2019. PMID: 31077350