Brendan Lee

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

Brendan Lee, Maurice Godfrey, Emilia Vitale et al. · Nature · 1991 · 671 citations

Marfan Syndrome, Different Fibrillin Genes, Mendelian Disorder +11

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

Brendan Lee, Kannan Thirunavukkarasu, Lei Zhou et al. · Nature Genetics · 1997 · 569 citations

Cleidocranial Dysplasia, Missense Mutations, Dna Binding +9

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Sandra D. Dreyer, Guang Zhou, Antonio Baldini et al. · Nature Genetics · 1998 · 526 citations

Renal Dysplasia, Mendelian Disorder, Genetic Disorder +6

CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

Roy Morello, Terry Bertin, Yuqing Chen et al. · Cell · 2006 · 524 citations · Full text

Sclerostin, Developmental Biology, Bone Morphogenic Protein +6

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Jung Ahn, Hermann‐Josef Lüdecke, Steffi Lindow et al. · Nature Genetics · 1995 · 428 citations

Genetics, Pathology, Molecular Genetics +6