Publications

Selected Publications

Bhaduri U, Merla G. Rise of TRIM8: A Molecule of Duality. Mol Ther Nucleic Acids. 2020 Sep 2;22:434-444. doi: 10.1016/j.omtn.2020.08.034. PMID: 33230447.

Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med. 2020 Jan 17;10.1038/s41436-019-0743-3. doi: 10.1038/s41436-019-0743-3. PMID: 31949313.

Venuto S, Monteonofrio L, Cozzolino F, Monti M, Appolloni I, Mazza T, Canetti D, Giambra V, Panelli P, Fusco C, Squeo GM, Croce AI, Pucci P, Malatesta P, Soddu S, Merla G, Micale L. TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability. Cancer Lett. 2020 Mar 31;473:98-106. doi: 10.1016/j.canlet.2019.12.042. Epub 2020 Jan 2. PMID: 31904480.

Malerba N, Benzoni P, Squeo GM, Milanesi R, Giannetti F, Sadleir LG, Poke G, Augello B, Croce AI, Barbuti A, Merla G. Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub
2019 Aug 22. PMID: 31479876.

Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O’Rourke T, Laugsch M, Malerba N, Skaros A, Trattaro S, Germain PL, Mihailovic M, Merla G, Rada-Iglesias A, Boeckx C, Testa G. Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi:10.1126/sciadv.aaw7908. PMID: 31840056.

Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N. The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. Cell. 2018 Nov 1;175(4):1088-1104.e23. doi: 10.1016/j.cell.2018.09.014. PMID: 30318146.

Vernon H, Cohen J, De Nittis P, Fatemi A, McClellan R, Goldstein A, Malerba N, Guex N, Reymond A, Merla G. Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. Clin Genet. 2018 Jun;93(6):1254-1256. doi: 10.1111/cge.13194. Epub 2018 Jan 25. PMID: 29368331.

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds
WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 1;99(3):786. doi: 10.1016/j.ajhg.2016.08.011. Epub 2016 Sep 1. Erratum for: Am J
Hum Genet. 2016 Sep 1;99(3):704-710. PMID: 27588455.

Adamo A, Atashpaz S, Germain PL, Zanella M, D’Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Nat Genet. 2015 Feb;47(2):132-41. doi: 10.1038/ng.3169. Epub 2014 Dec 15. PMID:25501393.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C. BRF1 mutations
alter RNA polymerase III-dependent transcription and cause neurodevelopmentalanomalies. Genome Res. 2015 Apr;25(4):609. PMID: 25834187.

All Publications

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