Sotabase

Career

· Professor, Baylor College of Medicine

Publications (406)

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
Genetics in Medicine · 2014
848
cited
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
Nature · 1991
659
cited
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
Nature Genetics · 1997
602
cited
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nature Genetics · 2008
591
cited
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
Nature Genetics · 1998
539
cited
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
Cell · 2006
499
cited
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
Nature Genetics · 1998
490
cited
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
Nature Genetics · 1995
431
cited
Dimorphic effects of Notch signaling in bone homeostasis
Nature Medicine · 2008
415
cited
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
JAMA pediatrics · 2017
397
cited
Dominance of SOX9 function over RUNX2 during skeletogenesis
Proceedings of the National Academy of Sciences of the United States of America · 2006
365
cited
The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells.
Cancer Cell · 2015
338
cited
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
New England Journal of Medicine · 2013
336
cited
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo
Journal of Cell Biology · 2003
327
cited
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
New England Journal of Medicine · 2018
322
cited
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
New England Journal of Medicine · 2006
321
cited
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
American Journal of Human Genetics · 2010
284
cited
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Nature Medicine · 2019
264
cited
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
New England Journal of Medicine · 1992
240
cited
Genetic factors in congenital diaphragmatic hernia.
American Journal of Human Genetics · 2007
238
cited
Sotabase
Brendan Lee | Researcher Profile | Sotabase | Sotabase