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A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Ganapathi M, Buchovecky CM, Cristo F, Ahimaz P, Ruzal-Shapiro C, Wou K, Inácio JM, Iglesias A, Belo JA, Jobanputra V. Ganapathi M, et al. Among authors: cristo f. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006248. doi: 10.1101/mcs.a006248. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36316122 Free PMC article.
Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration.
Pars S, Cristo F, Inácio JM, Rosas G, Carreira IM, Melo JB, Mendes P, Martins DS, de Almeida LP, Maio J, Anjos R, Belo JA. Pars S, et al. Among authors: cristo f. Stem Cell Res. 2018 May;29:202-206. doi: 10.1016/j.scr.2018.04.015. Epub 2018 Apr 28. Stem Cell Res. 2018. PMID: 29730570 Free article.