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• Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

  Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
• Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

  Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Kaiwar C, et al. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28963436 Free PMC article. Review.
• Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

  Bertacchi M, Tocco C, Schaaf CP, Studer M. Bertacchi M, et al. Cells. 2022 Apr 8;11(8):1260. doi: 10.3390/cells11081260. Cells. 2022. PMID: 35455940 Free PMC article. Review.
• Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

  Mio C, Fogolari F, Pezzoli L, D'Elia AV, Iascone M, Damante G. Mio C, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1278. doi: 10.1002/mgg3.1278. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32412696 Free PMC article.
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

  Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. Chen CA, et al. Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Genet Med. 2016. PMID: 26986877