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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: diaz de bustamante a. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.
Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S. Arnau-Collell C, et al. Among authors: diaz gay m, diaz de bustamante a. J Med Genet. 2020 Oct;57(10):677-682. doi: 10.1136/jmedgenet-2019-106374. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170005 Free PMC article.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: diaz de bustamante a. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Gil-Salvador M, Latorre-Pellicer A, Lucia-Campos C, Arnedo M, Darnaude MT, Díaz de Bustamante A, Villares R, Palma Milla C, Puisac B, Musio A, Ramos FJ, Pié J. Gil-Salvador M, et al. Among authors: diaz de bustamante a. Front Genet. 2022 Sep 28;13:993064. doi: 10.3389/fgene.2022.993064. eCollection 2022. Front Genet. 2022. PMID: 36246631 Free PMC article.
Tetraploidy in a liveborn infant.
López Pajares I, Delicado A, Diaz de Bustamante A, Pellicer A, Pinel I, Pardo M, Martin M. López Pajares I, et al. Among authors: diaz de bustamante a. J Med Genet. 1990 Dec;27(12):782-3. doi: 10.1136/jmg.27.12.782. J Med Genet. 1990. PMID: 2074564 Free PMC article. Review.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R. Mates J, et al. Among authors: diaz flores f, diaz de bustamante a. Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511324 Free PMC article.
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Toma C, Díaz-Gay M, Soares de Lima Y, Arnau-Collell C, Franch-Expósito S, Muñoz J, Overs B, Bonjoch L, Carballal S, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Balaguer F, Rodríguez-Alcalde D, Fullerton JM, Castellví-Bel S. Toma C, et al. Among authors: diaz gay m, diaz de bustamante a. Clin Transl Gastroenterol. 2019 Oct;10(10):e00100. doi: 10.14309/ctg.0000000000000100. Clin Transl Gastroenterol. 2019. PMID: 31663907 Free PMC article.
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
Soares de Lima Y, Arnau-Collell C, Díaz-Gay M, Bonjoch L, Franch-Expósito S, Muñoz J, Moreira L, Ocaña T, Cuatrecasas M, Herrera-Pariente C, Carballal S, Moreno L, Díaz de Bustamante A, Castells A, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Castellví-Bel S. Soares de Lima Y, et al. Among authors: diaz gay m, diaz de bustamante a. Cancers (Basel). 2021 Feb 23;13(4):929. doi: 10.3390/cancers13040929. Cancers (Basel). 2021. PMID: 33672345 Free PMC article.
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Brugada J, Fernandez-Aviles F, Brugada R. Mademont-Soler I, et al. Among authors: diaz de bustamante a. PLoS One. 2017 Aug 3;12(8):e0181465. doi: 10.1371/journal.pone.0181465. eCollection 2017. PLoS One. 2017. PMID: 28771489 Free PMC article.
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