Brendan Lee

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome

Haixu Chen, Yi Lun, Dmitry A. Ovchinnikov et al. · Nature Genetics · 1998 · 574 citations

Life Sciences, Genetics, Molecular Genetics +12

Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo

Qiping Zheng, Guang Zhou, Roy Morello et al. · The Journal of Cell Biology · 2003 · 326 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes

Marshall Summar, Dries Dobbelaere, Saul W. Brusilow et al. · Acta Paediatrica · 2008 · 235 citations · Full text

Medicine, Internal Medicine, Pediatrics +6

The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9–dependent innate immune responses in the liver

Ashley T. Martino, Masataka Suzuki, David M. Markusic et al. · Blood · 2011 · 233 citations · Full text

Life Sciences, Immunology, Molecular Biology +16