Teresa Costa

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Molecular and Biochemical Characterization of a Highly Stable Bacterial Laccase That Occurs as a Structural Component of the Bacillus subtilis Endospore Coat

Lı́gia O. Martins, Cláudio M. Soares, Manuela M. Pereira et al. · Journal of Biological Chemistry · 2002 · 531 citations · Full text

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan Hellemans, Olena Preobrazhenska, Andy Willaert et al. · Nature Genetics · 2004 · 454 citations · Full text

Lemd3 Result, Developmental Biology, Sclerostin +9

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

Jack Thomas, Michael W. Kilpatrick, Kerning Lin et al. · Nature Genetics · 1997 · 357 citations

Genome Instability, Developmental Biology, Genetic Disorder +10

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Lucy R. Osborne, Martin Li, Barbara R. Pober et al. · Nature Genetics · 2001 · 333 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5