Novel genetic causes of human disease

Gilissen C*, Hehir-Kwa JY*, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle Rick, Bo T, Pfundt R, Yntema HG, de Vries BBA, Kleefstra T, Brunner HG#, Vissers LELM#, Veltman JA#. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014 Jul 17;511(7509):344-7.

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Gilissen C, Hoischen A, Brunner HG, Veltman JA Disease gene identification strategies for exome sequencing .Eur J Hum Genet. 2012 May;20(5):490-7.

Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing Genome Biol. 2011 Sep 14;12(9):228.

Van Bon BW*, Gilissen C*, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB#, Hoischen A#. Cantu Syndrome Is Caused by Mutations in ABCC9. Am J Hum Genet. 2012 May 16.

Nikopoulos K*, Gilissen C*, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy Am J Hum Genet. 2010 Feb 12;86(2):240-7.

Becker J*, Semler O*, Gilissen C*, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, and Netzer C Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal- Recessive Osteogenesis Imperfecta Am J Hum Genet. 2011,xx

Vissers LE*, de Ligt J*, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P,Wieskamp N, Del Rosario, M, van Bon BW, Hoischen A, de Vries BB, Brunner HG#, Veltman JA#. A de novo paradigm for mental retardation Nat Genet. 2010 Dec;42(12):1109-12.

Gilissen C*, Arts HH*, Hoischen A*, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NVAM, Veltman JA, Brunner HG. Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome. Am J Hum Genet. 2010 Sep 10;87(3):418-23.

Hoischen A*, van Bon B*, Gilissen C*, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, DeVriendt K, Amorim MZ, Revencu M, Kidd A, Barbosa M, Tuner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BBA, Veltman JA. De novo mutations of SETBP1 cause Schinzel- Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5.