Brendan Lee

Research.com Recognitions

• 2014 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Best Publications

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

  Brendan Lee;Maurice Godfrey;Emilia Vitale;Hisae Hori

  846
  Citations

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

  Brendan Lee;Kannan Thirunavukkarasu;Lei Zhou;Lucio Pastore

  681
  Citations

• 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;John Belmont

  667
  Citations

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

  Haixu Chen;Yi Lun;Dmitry Ovchinnikov;Hiroki Kokubo

  582
  Citations

• CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

  Roy Morello;Terry K. Bertin;Yuqing Chen;Yuqing Chen;John Hicks

  553
  Citations

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

  Sandra D. Dreyer;Guang Zhou;Antonio Baldini;Andreas Winterpacht

  546
  Citations

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

  Jung Ahn;Hermann-Josef Lüdecke;Steffi Lindow;William A. Horton

  544
  Citations

• Dimorphic effects of Notch signaling in bone homeostasis.

  Feyza Engin;Zhenqiang Yao;Tao Yang;Guang Zhou

  456
  Citations

• Dominance of SOX9 function over RUNX2 during skeletogenesis

  Guang Zhou;Qiping Zheng;Feyza Engin;Elda Munivez

  403
  Citations

• Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

  Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  396
  Citations

• The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells.

  Hai Wang;Cuijuan Yu;Xia Gao;Thomas Welte

  384
  Citations

• Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

  Aileen M. Barnes;Weizhong Chang;Roy Morello;Wayne A. Cabral

  384
  Citations

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

  Qiping Zheng;Guang Zhou;Roy Morello;Yuqing Chen

  380
  Citations

• WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

  Christine M. Laine;Kyu Sang Joeng;Philippe M. Campeau;Riku Kiviranta

  367
  Citations

• Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

  Yasemin Alanay;Hrispima Avaygan;Natalia Camacho;G. Eda Utine

  355
  Citations

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

  Kimberly Splinter;David R. Adams;Carlos A. Bacino;Hugo J. Bellen

  320
  Citations

• Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

  Tsipouras P;Del Mastro R;Sarfarazi M;Lee B

  306
  Citations

• Genetic factors in congenital diaphragmatic hernia

  Ashley M. Holder;M. Klaassens;D. Tibboel;A. De Klein

  305
  Citations

• Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta

  Ingo Grafe;Tao Yang;Stefanie Alexander;Erica P Homan

  293
  Citations

• Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

  Brendan Lee;George A. Diaz;William Rhead;Uta Lichter-Konecki

  36
  Citations