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Brendan Lee
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Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
B Lee, M Godfrey, E Vitale, H Hori, MG Mattei, M Sarfarazi, P Tsipouras, ...
Nature 352 (6333), 330-334, 1991
8541991
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
B Lee, K Thirunavukkarasu, L Zhou, L Pastore, A Baldini, J Hecht, ...
Nature genetics 16 (3), 307-310, 1997
6891997
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ...
Nature genetics 40 (12), 1466-1471, 2008
6702008
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
H Chen, Y Lun, D Ovchinnikov, H Kokubo, KC Oberg, CV Pepicelli, L Can, ...
Nature genetics 19 (1), 51-55, 1998
6051998
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
R Morello, TK Bertin, Y Chen, J Hicks, L Tonachini, M Monticone, ...
Cell 127 (2), 291-304, 2006
5882006
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
SD Dreyer, G Zhou, A Baldini, A Winterpacht, B Zabel, W Cole, ...
Nature genetics 19 (1), 47-50, 1998
5781998
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
J Ahn, HJ Lüdecke, S Lindow, WA Horton, B Lee, MJ Wagner, ...
Nature genetics 11 (2), 137-143, 1995
5381995
Dimorphic effects of Notch signaling in bone homeostasis
F Engin, Z Yao, T Yang, G Zhou, T Bertin, MM Jiang, Y Chen, L Wang, ...
Nature medicine 14 (3), 299-305, 2008
4742008
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
4232017
Dominance of SOX9 function over RUNX2 during skeletogenesis
G Zhou, Q Zheng, F Engin, E Munivez, Y Chen, E Sebald, D Krakow, ...
Proceedings of the National Academy of Sciences 103 (50), 19004-19009, 2006
4162006
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
AM Barnes, W Chang, R Morello, WA Cabral, MA Weis, DR Eyre, S Leikin, ...
New England Journal of Medicine 355 (26), 2757-2764, 2006
4132006
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ...
New England Journal of Medicine 368 (19), 1809-1816, 2013
3892013
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo
Q Zheng, G Zhou, R Morello, Y Chen, X Garcia-Rojas, B Lee
The Journal of cell biology 162 (5), 833-842, 2003
3832003
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
3652010
The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells
H Wang, C Yu, X Gao, T Welte, AM Muscarella, L Tian, H Zhao, Z Zhao, ...
Cancer cell 27 (2), 193-210, 2015
3502015
Effect of genetic diagnosis on patients with previously undiagnosed disease
K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ...
New England Journal of Medicine 379 (22), 2131-2139, 2018
3272018
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta
I Grafe, T Yang, S Alexander, EP Homan, C Lietman, MM Jiang, T Bertin, ...
Nature medicine 20 (6), 670-675, 2014
3002014
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
P Tsipouras, R Del Mastro, M Sarfarazi, B Lee, E Vitale, AH Child, ...
New England Journal of Medicine 326 (14), 905-909, 1992
2911992
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology 13 (1), 44-58, 2014
2892014
A natural history of cleidocranial dysplasia
SC Cooper, CM Flaitz, DA Johnston, B Lee, JT Hecht
American journal of medical genetics 104 (1), 1-6, 2001
2812001
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