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Scope of definitions of genetic testing: evidence from a EuroGentest survey.
Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J. Pinto-Basto J, et al. Among authors: javaher p. J Community Genet. 2010 Mar;1(1):29-35. doi: 10.1007/s12687-010-0004-2. Epub 2010 Mar 16. J Community Genet. 2010. PMID: 22422358 Free PMC article.
EuroGentest: DNA-based testing for heritable disorders in Europe.
Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J. Javaher P, et al. Community Genet. 2008;11(2):75-120. doi: 10.1159/000111984. Epub 2008 Jan 17. Community Genet. 2008. PMID: 18204250 Review.
Genetic screening in Europe.
Javaher P, Nyoungui E, Kääriäinen H, Kristoffersson U, Nippert I, Sequeiros J, Schmidtke J. Javaher P, et al. Public Health Genomics. 2010;13(7-8):524-37. doi: 10.1159/000294998. Epub 2010 Mar 5. Public Health Genomics. 2010. PMID: 20203479
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B, Campagnolo É, Spineli-Silva S, de Leeuw N, Correia-Costa GR, Pessoa A, de Souza CFM, Stevens C, Javaher P, Scallet HF, Mohr J, Biskup S, Herkert JC, Pfundt R, Mehta L, Rekab A, Elloumi HZ, Sanyoura M, Maciel-Guerra AT, Gil-da-Silva-Lopes VL, Dos Santos AM, Vieira TP. Schincariol-Manhe B, et al. Among authors: javaher p. Eur J Hum Genet. 2024 Dec;32(12):1640-1646. doi: 10.1038/s41431-024-01695-8. Epub 2024 Sep 27. Eur J Hum Genet. 2024. PMID: 39333428