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Novel biallelic variants expand the phenotype of NAA20-related syndrome.
D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, Arnesen T, Bilo L. D'Onofrio G, et al. Among authors: webb bd. Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16. Clin Genet. 2023. PMID: 37191084
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Morrison J, Altuwaijri NK, Brønstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T. Morrison J, et al. Among authors: webb bd. Genet Med. 2021 Nov;23(11):2213-2218. doi: 10.1038/s41436-021-01264-0. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230638 Free PMC article.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Among authors: webb bd. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: webb bd. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Urreizti R, et al. Among authors: webb bd. Eur J Hum Genet. 2020 Jan;28(1):64-75. doi: 10.1038/s41431-019-0374-9. Epub 2019 Mar 15. Eur J Hum Genet. 2020. PMID: 30877278 Free PMC article.
57 results