• Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome
• Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case
• Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
• Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers
• Further delineation of the Baller-Gerold syndrome
• Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
• Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
• Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion
• Sacral tumors in Schinzel-Giedion syndrome
• X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression