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Corrigendum to "Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center": [ESMO Open 7 (2022) 100607].
Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer. Poliani L, et al. Among authors: genuardi m. ESMO Open. 2023 Jun;8(3):101581. doi: 10.1016/j.esmoop.2023.101581. Epub 2023 Jun 2. ESMO Open. 2023. PMID: 37270869 Free PMC article. No abstract available.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):279-281. doi: 10.1038/s41431-022-01241-4. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450798 Free PMC article. No abstract available.
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):368. doi: 10.1038/s41431-022-01263-y. Eur J Hum Genet. 2023. PMID: 36536147 Free PMC article. No abstract available.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: genuardi m. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. Among authors: genuardi m. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
Biolato M, Terranova R, Viceconti N, Marrone G, Miele L, Giustiniani MC, Francalanci P, Gazzellone A, Bauleo A, Falcone E, Genuardi M, Grieco A. Biolato M, et al. Among authors: genuardi m. Gastroenterol Rep (Oxf). 2024 Apr 25;12:goae022. doi: 10.1093/gastro/goae022. eCollection 2024. Gastroenterol Rep (Oxf). 2024. PMID: 38665279 Free PMC article. No abstract available.
296 results