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Page 1
Recommendations for the use of microarrays in prenatal diagnosis.
Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos. Suela J, et al. Among authors: garcia planells j. Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. Med Clin (Barc). 2017. PMID: 28233562 English, Spanish.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: garcia planells j. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.
Valero-Garcia J, González-Espinosa MDC, Barrios M, Carmona-Antoñanzas G, García-Planells J, Ruiz-Lafora C, Fuentes-Gálvez A, Jiménez-Velasco A. Valero-Garcia J, et al. Among authors: garcia planells j. PLoS One. 2019 Feb 22;14(2):e0212708. doi: 10.1371/journal.pone.0212708. eCollection 2019. PLoS One. 2019. PMID: 30794643 Free PMC article.
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Among authors: garcia planells j. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Correction: Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.
Valero-Garcia J, González-Espinosa MDC, Barrios M, Carmona-Antoñanzas G, García-Planells J, Ruiz-Lafora C, Fuentes-Gálvez A, Jiménez-Velasco A. Valero-Garcia J, et al. Among authors: garcia planells j. PLoS One. 2019 Mar 13;14(3):e0213966. doi: 10.1371/journal.pone.0213966. eCollection 2019. PLoS One. 2019. PMID: 30865717 Free PMC article.
Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.
Rodríguez-López R, García-Planells J, Martínez-Matilla M, Pérez-García C, García Banacloy A, Guzmán Luján C, Zomeño Alcalá O, Belchi Navarro J, Martínez-León J, Salguero-Bodes R. Rodríguez-López R, et al. Among authors: garcia planells j. Life (Basel). 2022 Jul 12;12(7):1035. doi: 10.3390/life12071035. Life (Basel). 2022. PMID: 35888124 Free PMC article.
28 results