Author:
Poulton Cathryn,Oegema Renske,Heijsman Daphne,Hoogeboom Jeannette,Schot Rachel,Stroink Hans,Willemsen Michèl A.,Verheijen Frans W.,van de Spek Peter,Kremer Andreas,Mancini Grazia M. S.
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Reference23 articles.
1. Hoischen A, van Bon BW, Gilissen C et al (2010) De novo mutations of SETBP1 cause Schinzel–Giedion syndrome. Nat Genet 42:483–485
2. Lupski JR, Reid JG, Gonzaga-Jauregui C et al (2010) Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy. N Engl J Med 362:1181–1191
3. Roach JC, Glusman G, Smit AF et al (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636–639
4. Pippucci T, Benelli M, Magi A et al (2011) EX-HOM (EXome HOMozygosity): a proof of principle. Hum Hered 72:45–53
5. Dixon-Salazar TJ, Silhavy JL, Udpa N et al (2012) Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 4:138–178
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