1015 Walnut Street
Curtis Building, Room 501
Philadelphia, PA 19107
(215) 955-5480
Curtis Building, Room 501
Philadelphia, PA 19107
(215) 955-5480
Most Recent Peer-reviewed Publications
- Variable Expression and Incomplete Penetrance of Developmental Dysplasia of the Hip. Clinical Challenge in a 71-Member Multigeneration Family.
- The otto aufranc award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family
- Response to "mutations of the Noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al
- Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome
- Erratum: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva (Nature Genetics (2006) 38, (525-527))
- A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
- The genetics of fibrodysplasia ossificans progressiva
- Exoneration of NF-κB dysregulation in fibrodysplasia ossificans progressiva
- Development of a decision aid for patients with atrial fibrillation who are considering antithrombotic therapy
- Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)
- Primary prevention studies and the healthy elderly: Evaluating barriers to recruitment
- Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31
- Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710))
- Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain
- Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
- A novel phenotypic pattern in X-linked inheritan Craniofrontonasal syndrome maps to Xp22
- Adjusted-dose warfarin versus low-intensity, fixed-dose warfarin plus aspirin for high-risk patients with atrial fibrillation: Stroke prevention in Atrial Fibrillation III Randomised Clinical Trial
- A gene for cleidocranial dysplasia maps to the short arm of chromosome 6
- Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
- Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
