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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB. Nielsen SM, et al. Among authors: De Toffol S. JCO Precis Oncol. 2018;2:10.1200/PO.18.00091. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26. JCO Precis Oncol. 2018. PMID: 31517176 Free PMC article.
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR. Marcato L, et al. Among authors: De Toffol S. Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6. Clin Case Rep. 2014. PMID: 25356238 Free PMC article.
Response to "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".
Grati FR, Malvestiti F, Grimi B, Gaetani E, Di Meco AM, Trotta A, Liuti R, Chinetti S, Dulcetti F, Ruggeri AM, Agrati C, Frascoli G, Milani S, De Toffol S, Martinoni L, Paganini S, Marcato L, Maggi F, Simoni G. Grati FR, et al. Among authors: De Toffol S. Prenat Diagn. 2013 Nov;33(11):1117. doi: 10.1002/pd.4220. Prenat Diagn. 2013. PMID: 24590588 No abstract available.
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.
Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, Grimi B, Dulcetti F, Ruggeri AM, De Toffol S, Maggi F, Wapner R, Gross S, Simoni G. Grati FR, et al. Among authors: De Toffol S. Genet Med. 2014 Aug;16(8):620-4. doi: 10.1038/gim.2014.3. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525917
De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.
Malvestiti F, De Toffol S, Grimi B, Chinetti S, Marcato L, Agrati C, Di Meco AM, Frascoli G, Trotta A, Malvestiti B, Ruggeri A, Dulcetti F, Maggi F, Simoni G, Grati FR. Malvestiti F, et al. Among authors: De Toffol S. Prenat Diagn. 2014 May;34(5):460-8. doi: 10.1002/pd.4330. Epub 2014 Feb 11. Prenat Diagn. 2014. PMID: 24436202
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.
Malvestiti F, Benedicenti F, De Toffol S, Chinetti S, Höller A, Grimi B, Fichtel G, Braghetto M, Agrati C, Bonaparte E, Maggi F, Simoni G, Grati FR. Malvestiti F, et al. Among authors: De Toffol S. Case Rep Genet. 2013;2013:306098. doi: 10.1155/2013/306098. Epub 2013 May 16. Case Rep Genet. 2013. PMID: 23762669 Free PMC article.
QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.
Grati FR, Malvestiti F, Grimi B, Gaetani E, Di Meco AM, Trotta A, Liuti R, Chinetti S, Dulcetti F, Ruggeri AM, Agrati C, Frascoli G, Milani S, De Toffol S, Martinoni L, Paganini S, Marcato L, Maggi F, Simoni G. Grati FR, et al. Among authors: De Toffol S. Prenat Diagn. 2013 May;33(5):502-8. doi: 10.1002/pd.4099. Epub 2013 Apr 21. Prenat Diagn. 2013. PMID: 23606546
Application of a new molecular technique for the genetic evaluation of products of conception.
Grati FR, Gomes DM, Ganesamoorthy D, Marcato L, De Toffol S, Blondeel E, Malvestiti F, Loeuillet L, Ruggeri AM, Wainer R, Maggi F, Aboura A, Dupont C, Tabet AC, Guimiot F, Slater HR, Simoni G, Vialard F. Grati FR, et al. Among authors: De Toffol S. Prenat Diagn. 2013 Jan;33(1):32-41. doi: 10.1002/pd.4004. Epub 2012 Nov 20. Prenat Diagn. 2013. PMID: 23168908
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories.
Vialard F, Simoni G, Gomes DM, Abourra A, De Toffol S, Bru F, Martinez Romero MC, Nitsch L, Bouhanna P, Marcato L, Popowski T, Grimi B, Martínez-Conejero JA, Benzacken B, Genesio R, Grati FR. Vialard F, et al. Among authors: De Toffol S. Prenat Diagn. 2012 Apr;32(4):329-35. doi: 10.1002/pd.2934. Prenat Diagn. 2012. PMID: 22467163 Clinical Trial.
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