Gabriel A. Bien-Willner

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway (2007)

Bien-Willner, Gabriel A., Stankiewicz, Pawel, Lupski, James R.

SOX9 is a temporal and tissue-specific transcription factor involved in male sexual development and bone formation. Haploinsufficiency of SOX9 is known to cause campomelic dysplasia (CD). CD cases...

Position effects : distal regulation of SOX9 by cis-acting regulators and SHH signaling / (2007)

Bien-Willner, Gabriel A.

Abstract.

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Velagaleti, Gopalrao V. N., Bien-Willner, Gabriel A., Northup, Jill K., Lockhart, Lillian H., Hawkins, Judy C., Jalal, Syed M., ...

Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the multiple mutations found within the sex-determining region Y–related...