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 · 675 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Dentistry, Genetics, Molecular Genetics +16

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

Roy Morello, Terry Bertin, Yuqing Chen et al. · Cell · 2006 · 530 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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 · 530 citations

Medicine, Genetics, Molecular Genetics +15

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14