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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: alzaidan h. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Among authors: alzaidan h. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS. Maddirevula S, et al. Among authors: alzaidan h. Genet Med. 2019 May;21(5):1164-1172. doi: 10.1038/s41436-018-0288-x. Epub 2018 Sep 25. Genet Med. 2019. PMID: 30250217 Free article.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium; Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L. Hengel H, et al. Among authors: alzaidan h. Am J Hum Genet. 2021 Jun 3;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. Am J Hum Genet. 2021. PMID: 34022130 Free PMC article.
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: alzaidan h. J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18. J Mol Med (Berl). 2021. PMID: 34536092 Free PMC article. Review.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: alzaidan h. J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4. J Mol Med (Berl). 2021. PMID: 34661688 Free PMC article. No abstract available.
62 results