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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif M, Kaygusuz E, Shinawi M, Nickelsen A, Hsieh TC, Wagle P, Budde BS, Hochscherf J, Abdullah U, Höning S, Nienberg C, Lindenblatt D, Noegel AA, Altmüller J, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Tinschert S, Samra NN, Savatt JM, Rudy NL, De Luca C; Italian Undiagnosed Diseases Network; Paola Fortugno, White SM, Krawitz P, Hurst ACE, Niefind K, Jose J, Brancati F, Nürnberg P, Hussain MS. Asif M, et al. HGG Adv. 2022 Apr 18;3(3):100111. doi: 10.1016/j.xhgg.2022.100111. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35571680 Free PMC article.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS. Rasool S, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17. Mol Genet Genomic Med. 2020. PMID: 32677750 Free PMC article.
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH, Waseem SS, Iqbal M, Abdullah U, Hussain G, Asif M, Budde B, Höhne W, Tinschert S, Saadi SM, Yousaf H, Ali Z, Fatima A, Kaygusuz E, Khan A, Jameel M, Khan S, Tariq M, Anjum I, Altmüller J, Thiele H, Höning S, Baig SM, Nürnberg P, Hussain MS. Makhdoom EUH, et al. Genes (Basel). 2021 May 13;12(5):731. doi: 10.3390/genes12050731. Genes (Basel). 2021. PMID: 34068194 Free PMC article.