Concepedia

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier,

Nature Genetics · 2010 · 507 citations · 12 references

DOI

Concepts

References

12

A gene atlas of the mouse and human protein-encoding transcriptomes

Andrew I. Su, Tim Wiltshire, Serge Batalov et al. · Proceedings of the National Academy of Sciences · 2004 · 3.5K citations · Full text

, , +16

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

, , +9

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

, , +8

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

, , +4

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

Albert Schinzel, A Giedion · American Journal of Medical Genetics · 1978 · 149 citations

, , +17