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• Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.

  Yazdani S, Badjatiya A, Dorrani N, Lee H, Grody WW, Nelson SF, Dipple KM. Yazdani S, et al. Mol Genet Metab Rep. 2020 Apr 6;23:100582. doi: 10.1016/j.ymgmr.2020.100582. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32280589 Free PMC article.
• Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

  De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A; SYNAPS Study Group; Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A. De Nittis P, et al. J Med Genet. 2021 Dec;58(12):815-831. doi: 10.1136/jmedgenet-2020-107015. Epub 2020 Nov 10. J Med Genet. 2021. PMID: 33172956 Free PMC article.
• The Emerging Role of Gβ Subunits in Human Genetic Diseases.

  Malerba N, De Nittis P, Merla G. Malerba N, et al. Cells. 2019 Dec 4;8(12):1567. doi: 10.3390/cells8121567. Cells. 2019. PMID: 31817184 Free PMC article. Review.
• Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

  Sciacca FL, Ciaccio C, Fontana F, Strano C, Gilardoni F, Pantaleoni C, D'Arrigo S. Sciacca FL, et al. Front Genet. 2020 May 13;11:399. doi: 10.3389/fgene.2020.00399. eCollection 2020. Front Genet. 2020. PMID: 32477400 Free PMC article.
• A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

  Malerba N, Towner S, Keating K, Squeo GM, Wilson W, Merla G. Malerba N, et al. Front Genet. 2018 Dec 12;9:626. doi: 10.3389/fgene.2018.00626. eCollection 2018. Front Genet. 2018. PMID: 30631341 Free PMC article.