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Page 1
Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population.
Balla C, Margutti A, De Carolis B, Canovi L, Di Domenico A, Vivaldi I, Vitali F, De Raffele M, Malagù M, Sassone B, Biffi M, Selvatici R, Ferlini A, Gualandi F, Bertini M. Balla C, et al. Among authors: gualandi f. Heart Rhythm. 2024 Aug;21(8):1363-1369. doi: 10.1016/j.hrthm.2024.03.008. Epub 2024 Mar 10. Heart Rhythm. 2024. PMID: 38467355 Free article.
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L, Balla C, Farnè M, Margutti A, Maniscalchi ET, De Feo G, Di Domenico A, De Raffele M, Percesepe A, Uliana V, Barili V, Serra W, Sassone B, Virzì S, De Maria E, Parmeggiani G, Assenza GE, Biagini E, Parisi V, Biffi M, Carinci V, Perugini E, Imbrici P, Ferlini A, Bertini M, Selvatici R, Gualandi F. Tonelli L, et al. Among authors: gualandi f. J Cardiovasc Med (Hagerstown). 2023 Dec 1;24(12):864-870. doi: 10.2459/JCM.0000000000001560. Epub 2023 Oct 30. J Cardiovasc Med (Hagerstown). 2023. PMID: 37942788
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.
Farnè M, Fortunato F, Neri M, Farnè M, Balla C, Albamonte E, Barp A, Armaroli A, Perugini E, Carinci V, Facchini M, Chiarini L, Sansone VA, Straudi S, Tugnoli V, Sette E, Sensi M, Bertini M, Evangelista T, Ferlini A, Gualandi F. Farnè M, et al. Among authors: gualandi f. Eur J Med Genet. 2023 Jun;66(6):104749. doi: 10.1016/j.ejmg.2023.104749. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948289
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: gualandi f. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.
Bottillo I, Ciccone MP, Magliozzi M, Pilichou K, Girotto G, Girolami F, Cecconi M, D'Argenio V, Novelli V, Coiana A, Formicola D, Micaglio E, Tortora G, Gualandi F, Petrucci S; Italian Cardiogenetics Study Group; Castori M, Resta N, Vestri AR, Iascone M, Grammatico P. Bottillo I, et al. Among authors: gualandi f. J Mol Cell Cardiol. 2024 Dec 12;199:46-50. doi: 10.1016/j.yjmcc.2024.12.004. Online ahead of print. J Mol Cell Cardiol. 2024. PMID: 39674365 No abstract available.
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Benati D, Cattin E, Corradi F, Ferrari T, Pedrazzoli E, Patrizi C, Marchionni M, Bertorelli R, De Sanctis V, Merlini L, Ferlini A, Sabatelli P, Gualandi F, Recchia A. Benati D, et al. Among authors: gualandi f. Biomolecules. 2024 Nov 6;14(11):1412. doi: 10.3390/biom14111412. Biomolecules. 2024. PMID: 39595588 Free PMC article.
296 results