BrendanLeeMDPh.D.

PubMed

• 19 citations
  Arginase overexpression in neurons and its effect on traumatic brain injury
  Simran Madan, Bettina Kron, Zixue Jin, George Al Shamy, Philippe M. Campeau
  Molecular Genetics and Metabolism. 2018-09-01
• 256 citations
  The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells.
  Hai Wang, Cuijuan Yu, Xia Gao, Thomas Welte, Aaron M. Muscarella
  Cancer Cell. 2015-02-09
• 142 citations
  Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
  Marshall L. Summar, Dries Dobbelaere, Saul W. Brusilow, Brendan Lee
  Acta Paediatrica. 2008-10-01

Journal Articles

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease  
  Carlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
• Heterozygous WNT1 Variant Causing a Variable Bone Phenotype  
  Peter H Byers, Lynne M Bird, Brendan H Lee, American Journal of Medical Genetics Part A
• Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate  
  D. Hook, G.A. Diaz, B. Lee, J. Bartley, N. Longo, W. Berquist, C. Le Mons, I. Rudolph-Angelich, M. Porter, B.F. Scharschmidt, and M. Mokhtarani, Molecular Genetics and Metabolism Reports, 1/1/2016
• Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice  
  A. Rajagopal, E.P. Homan, K.S. Joeng, M. Suzuki, T. Bertin, R. Cela, E. Munivez, B. Dawson, M.M. Jiang, F. Gannon, S. Crawford, and B.H. Lee, Molecular Genetics and Metabolism, 1/1/2016
• Sclerostin antibody treatment improves the bone phenotype of Crtap-/-mice, a model of recessive Osteogenesis Imperfecta  
  I. Grafe, S. Alexander, T. Yang, C. Lietman, E. P. Homan, E. Munivez, Y. Chen, M.M. Jiang, T. Bertin, B. Dawson, F. Asuncion, H.Z. Ke, M. S Ominsky, and B. Lee, Journal of Bone and Mineral Research, 1/1/2016
• Treatment of osteoarthritis using a helper-dependent adenoviral vector retargeted to chondrocytes  
  M.Z.C. Ruan, V. Cerullo, R. Cela, C. Clarke, E. Lundgren-Akerlund, M.A. Barry, and B.H.L. Lee, Molecular Therapy—Methods & Clinical Development, 1/1/2016
• Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives  
  O.A. Shchelochkov, K. Dickinson, B.F. Scharschmidt, B. Lee, M. Marino, and C. Le Mons, Molecular Genetics and Metabolism Reports, 1/1/2016
• Dissatisfaction with Maintenance of Certification in Academic Pediatrics  
  KG Ackerman, B Lee, JA Kushner, Pediatric Research, 1/1/2016
• Gene Therapy Grows Up (And Moves Out of the House)  
  B.L. Davidson, and B. Lee, Human Molecular Genetics, 1/1/2016
• A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation  
  C.D. Lietman, R. Marom, E. Munivez, T.K. Bertin, M.M. Jiang, Y. Chen, B. Dawson, M.A. Weis, D. Eyre, and B. Lee, Journal of Bone and Mineral Research, 1/1/2015
• Blood ammonia and glutamine as predictors of hyperammonemic crises in urea cycle disorder patients  
  B. Lee, G.A. Diaz, W. Rhead, U. Lichter-Konecki, A. Feigenbaum, S.A. Berry, C. Le Mons, J.A Bartley, N. Longo, S.C. Nagamani, W. Berquist, R. Gallagher, D. Bartholomew..., Genetics in Medicine, 1/1/2015
• Cross-sectional multicenter study of osteogenesis imperfecta in North America-Results from the Linked Clinical Research Centers  
  R.M. Patel, S.C. Nagamani, D. Cuthbertson, P.M. Campeau, J.P. Krischer, J.R. Shapiro, R.D. Steiner, P.A. Smith, M.B. Bober, P.H. Byers, M. Pepin, M. Durigova, F.H. Glo..., Clinical Genetics, 1/1/2015
• RECQL4 regulates p53 function in vivo during skeletogenesis  
  L. Lu, K. Harutyunyan, W. Jin, J. Wu, T. Yang, Y. Chen, K.S. Joeng, Y. Bae, J. Tao, B.C. Dawson, M. Jiang, B. Lee, and L.L. Wang, Journal of Bone and Mineral Research, 1/1/2015
• Unique Roles of TLR9-and MyD88-Dependent and-Independent Pathways in Adaptive Immune Responses to AAV-Mediated Gene Transfer  
  G.L. Rogers, M. Suzuki, I. Zolotukhin, D.M. Markusic, L.M. Morel, B. Lee, H.C. Ertl, and R.W. Herzog, Journal of Innate Immunity, 1/1/2015
• Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations  
  D.M. Hudson, K.S. Joeng, R. Werther, A. Rajagopal, M. Weis, B.H. Lee, and D.R. Eyre, Journal of Biological Chemistry, 1/1/2015
• Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton  
  S. Chen, M. Grover, T. Sibai, J. Black, N. Rianon, A. Rajagopal, E. Munivez, T. Bertin, B. Dawson, Y. Chen, M.M. Jiang, B. Lee, T. Yang, and Y. Bae, Molecular Genetics and Metabolism, 1/1/2015
• FBN1 contributing to familial congenital diaphragmatic hernia  
  T.F. Beck, P.M. Campeau, S.N. Jhangiani, T. Gambin, A.H. Li, R. Abo-Zahrah, V.K. Jordan, A. Hernandez-Garcia, W.K. Wiszniewski, D. Muzny, R.A. Gibbs, E. Boerwinkle, J...., American Journal of Medical Genetics A, 1/1/2015
• Adult presentation of X-linked Conradi-Hunermann-Happle syndrome  
  J.E. Posey, L.C. Burrage, P.M. Campeau, J.T. Lu, T.N. Eble, L. Kratz, A.E. Schlesinger, R.A. Gibbs, B.H. Lee, and S.C. Nagamani, American Journal of Medical Genetics A, 1/1/2015
• Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies  
  M. Niceta, E. Stellacci, K.W. Gripp, G. Zampino, M. Kousi, M. Anselmi, A. Traversa, A. Ciolfi, D. Stabley, A. Bruselles, V. Caputo, S. Cecchetti, S. Prudente, M.T. Fio..., American Journal of Human Genetics, 1/1/2015
• Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3  
  J.X. Chong, L.C. Burrage, A.E. Beck, C.T. Marvin, M.J. McMillin, K.M. Shively, T.M. Harrell, K.J. Buckingham, C.A. Bacino, M. Jain, Y. Alanay, S.A. Berry, J.C. Carey, ..., American Journal of Human Genetics, 1/1/2015
• Differential effects of collagen 3-prolyl hydroxylation on skeletal tissues  
  E.P. Homan, C. Lietman, I. Grafe, J. Lennington, R. Morello, D. Napierala, M.M. Jiang, E.M. Munivez, B. Dawson, T.K. Bertin, Y. Chen, R. Lua, O. Lichtarge, J. Hicks, M..., PLoS Genetics, 1/1/2014
• The genetic basis of DOORS syndrome: an exome sequencing study  
  P.M. Campeau, D. Kasperaviciute, J.T. Lu, L.C. Burrage, C. Kim, M. Hori, B.R. Powell, F. Stewart, T.M. Félix, J.V.D. Ende, M.Wisniewska, H. Kayserili, P. Rump, S. Namp..., Lancet Neurology, 1/1/2014
• Teriparatide treatment in adults with Osteogenesis Imperfecta; a randomized trial  
  E.S. Orwoll, J. Shapiro, S. Veith, Y. Wang, J. Lapidus, C. Vanek, J.L. Reeder, T.M. Keaveny, D. Lee, M.A Mullins, S.C.S. Nagamani, and B. Lee, Journal of Clinical Investigation, 1/1/2014
• Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia  
  C. Murali, J.T. Lu, M. Jain, D.S. Liu, R. Lachman, R.A. Gibbs, B. Lee, D. Cohn, and P.M. Campeau, Molecular Genetics and Metabolism Reports, 1/1/2014
• Lysinuric protein intolerance presenting with multiple fractures  
  J.E. Posey, L.C. Burrage, M.J. Miller, P. Liu, M.T. Hardison, S.H. Elsea, Q. Sun, Y. Yang, A.S. Willis, A.E. Schlesinger, C.A. Bacino, and B. Lee, Molecular Genetics and Metabolism Reports, 1/1/2014
• Join now to see all

Books/Book Chapters

• Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis 
  Chapter: RUNX2 and Cleidocranial Dysplasia. 
  Page 401 - 406L.C. Burrage, Y. Bae, B.H. Lee, and D. NapieralaEditors: C. Epstein, R.P. Erickson, A. Wynshaw-Boris.Oxford University PressEdition 3rd,2016
• Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 
  Chapter: Recessive Osteogenesis Imperfecta due to mutations in CRTAP, LEPRE1, and PPBIB. 
  Page 141 - 150E.P. Homan, B. Lee, and R. MorelloEditors: J.A. Shapiro, P.H. Byers, F.H. Glorieux, and P. Sponsellar.Academic Press2013
• Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease 
  Chapter: SERPINF1 as a cause of Osteogenesis Imperfecta type VI. 
  Page 167 - 172K.S. Joeng, M. Grover, A. Rajagopal, and B. LeeEditors: J.A. Shapiro, P.H. Byers, F.H. Glorieux, and P. Sponsellar.Academic Press2013
• Genetics of Bone Biology and Skeletal Disease 
  Chapter: Prospects of Gene Therapy. 
  Page 133 - 150Z. Ruan, K. Guse, and B. LeeEditors: R.V. Thakker, M.P. Whyte, J. Eisman, and T. Igarashi.Elsevier2013
• Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism 
  Chapter: Human Fetal and Neonatal Bone Development. 
  Page 121 - 126T. Yang, M. Grove, K.Y. Joeng, and B. LeeEditors: C. Rosen.John Wiley & SonsEdition 8th,2013
• Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism 
  Chapter: Osteogenic Osteosarcoma. 
  Page 702 - 710J. Tao, Y. Bae, L. Wang, and B. LeeEditors: C. Rosen.John Wiley & SonsEdition 8th,2013
• GeneReviews™ (Internet) 
  Chapter: KAT6B-Related Disorders. 
  P. Campeau and B. LeeEditors: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP.University of Washington, Seattle, Seattle, WA2012
• GeneReviews 
  Chapter: Argininosuccinate Lyase Deficiency. 
  S.C. Sreenath-Nagamani, A. Erez A, and B. LeeEditors: Pagon RA, Bird TD, Dolan CR, Stephens K.University of Washington, Seattle, Seattle, WA2011
• Nelson Textbook of Pediatrics 
  Chapter: The Human Genome. 
  D. Scott and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: Genetics of Common Disorders. 
  Page 414 - 415John Belmont and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: Down Syndrome. 
  Page 399 - 404Karen Summar and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: Cytogenetics. 
  Page 394 - 414Carlos Bacino and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: Patterns of Genetic Transmission. 
  Page 383 - 393D. Scott and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: The Genetic Approach in Pediatric Medicine. 
  Page 380 - 383D. Scott and B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Nelson Textbook of Pediatrics 
  Chapter: Integration of Genetics into Pediatric Practice. 
  Page 376 - 379B. LeeEditors: R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton.Saunders ElsevierEdition 19th,2010
• Inborn Errors of Development 
  Chapter: RMRP and Cartilage Hair Hypoplasia. 
  Page 1142 - 1147P. Hermanns, B. Zabel, and B. LeeEditors: C. Epstein, R.P. Erickson, A. Wynshaw-Boris.Oxford University PressEdition 2nd,2008
• Genetic Diseases of the Kidney 
  Chapter: Nail Patella Syndrome. 
  Page 547 - 560R. Morello, D. Scott, and B. LeeEditors: R. Lifton, D. Seldin, G. Giebisch, and S. Somlo.Elsevier2008
• Pathophysiology and Management of Hyperammonemia 
  Chapter: Role of branched chain amino acids in patients with urea cycle disorders. 
  Page 65 - 75F. Scaglia, B. Lanpher, J. Marini, and B. LeeEditors: C. Bachmann, J. Haberle, and J.V. Leonard.SPS Publications2007
• Principles of Developmental Genetics 
  Chapter: Understanding Birth Defects Through Model Organism Studies. 
  Page 129 - 148F. Engin and B. LeeEditors: Sally Moody.Elsevier2007
• GeneReviews 
  Chapter: Cleidocranial Dysplasia. 
  R. Mendoza-Londono and B. LeeEditors: Pagon RA, Bird TD, Dolan CR, Stephens K.University of Washington, Seattle, Seattle, WA2006
• Encyclopedia of Biomaterials and Biomedical Engineering 
  Chapter: Gene Therapy. 
  Page 670 - 682V. Mane, W. McCormack, and B. LeeEditors: G.E. Wnek, G.L. Bowlin.Marcel Dekker2004
• Inborn Errors of Development 
  Chapter: LMX1B and Nail Patella Syndrome. 
  Page 615 - 624B. Lee and R. MorelloEditors: C. Epstein, R.P. Erickson, A. Wynshaw-Boris.Oxford University PressEdition 1st,2003
• Inborn Errors of Development 
  Chapter: RUNX2 and Cleidocranial Dysplasia. 
  Page 331 - 339B. Lee and G. ZhouEditors: C. Epstein, R.P. Erickson, A. Wynshaw-Boris.Oxford University PressEdition 1st,2003
• The Growth Plate 
  Chapter: RUNX2/CBFA1 mutations in cleidocranial dysplasia: Phenotypic and structure/function correlations. 
  Page 213 - 222K. McBride, D. Napierala, Y. Chen, Q. Zheng, G. Zhou, and B. LeeEditors: I.M. Shapiro, B. Boyan, H.C. Anderson.IOS Press, Amsterdam2002
• The Metabolic and Molecular Basis of Inherited Disease 
  Chapter: Marfan syndrome and related disorders. 
  Page 4079 - 4094F. Ramirez, M. Godfrey, B. Lee, and P. TsipourasEditors: C. Scriver, A. Beaudet, W. Sly, and D. Valle.Edition 7th,1995
• Join now to see all

Lectures

• "Argininosuccinate Lyase regulates nitric oxide-dependent NO production in coupling osteoblast-osteoclast function" 
  Crete, Greece - 1/1/2016
• "Bone mass and collagen-small leucine rich proteoglycan interactions" 
  Andover, NH - 1/1/2016
• "Nitric Oxide and Bone Homeostasis" 
  Galveston, TX - 1/1/2016
• "Genetics and Therapy of Brittle Bone Diseases" 
  Sapporo Japan - 1/1/2016
• "The Skeleton: A Model for Collaboration, Integration, and Leadership" 
  Baltimore, MD - 1/1/2016
• "Genetic Mechanisms in Osteosarcoma" 
  Seattle, WA - 1/1/2015
• "Translating Genetics into Therapy in the Skeletal Dysplasias" 
  Stanford University School of Medicine and Packard Children's Hospital, Palo Alto, CA - 1/1/2015
• "Bone and Osteocyte Biology: Lessons from Human Genetics" 
  Salzburg, Austria - 1/1/2015
• "Novel Matrix and Cell Signaling Mechanisms Informed by Human Skeletal Dysplasias" 
  Seoul, Korea - 1/1/2015
• "Gene Therapy and Genetic Models for Osteoarthritis" 
  Seoul, Korea - 1/1/2015
• "Argininosuccinate Lyase and Nitric Oxide" 
  Ventura, CA - 1/1/2015
• "Altered Matrix to Cell Signaling in the Human Skeletal Dysplasias" 
  Toronto, Canadanada - 1/1/2015
• "Molecular Pathology of Collagen 3-hydroxylation Defects" 
  Wilmington, DE - 1/1/2014
• "What can we learn from rare bone diseases?-Matrix" 
  Houston, TX - 1/1/2014
• "Genetics of OI and homeostatic mechanisms in the skeleton" 
  Houston, TX - 1/1/2014
• "Novel preclinical models, imaging, and treatment of osteoarthritis" 
  Washington, DC - 1/1/2014
• "Pathogenesis of Argininosuccinate Lyase Deficiency: From Mendelian to Complex Disease" 
  Zurich, Switzerland - 1/1/2014
• "Translating basic mechanisms to therapy in the skeletal dysplasias" 
  Vancouver, British Columbia - 1/1/2014
• "Unexpected genotype-phenotype associations in bone dysplasias driven by whole exome sequencing" 
  San Diego, CA - 1/1/2014
• "Genetics of Human Skeletal Dysplasias" 
  Bruges, Belgium - 1/1/2014
• "Unlocking the Secrets of the Skeletal Dysplasias: A Journey Inspired by David Rimoin" 
  American College of Medical Genetics, Phoenix, AZ - 1/1/2013
• "Rare Bone Disease Workshop: Mendelian Forms of Osteoporosis and Osteogenesis Imperfecta" 
  Baltimore, MD - 1/1/2013
• "Osteogenesis Imperfecta: New Genes and Therapies" 
  Nuremberg, Germany - 1/1/2012
• "MicroRNA regulation of Notch Signaling during Skeletal Development" 
  Corfu, Greece - 1/1/2012
• "Novel Mechanisms in the Pathogenesis of Osteogenesis Imperfecta" 
  Souzhou, China - 1/1/2012
• Join now to see all

Other

• Dental and Craniofacial Characteristics Caused by the p.Ser40Leu Mutation in IFITM5 
  Brendan Lee, MD, American Journal of Medical Genetics Part A
  https://www.doximity.com/articles/da020c4d-762b-4471-9fd3-e86465fa2cc7
  UpToDate, Wolters Kluwer Health - 2012-09-25
• Drugs for Rare Disease: Ravicti for Urea Cycle Disorders as a Case Study. 
  C. LeMons, B. Lee, B. Salehizadeh, K. Dickinson, C. Nash, M. Mokhtarani, and B.F. Scharschmidt, The Wharton Healthcare Quarterly
  1/1/2013
• Cartilage Hair Hypoplasia/Metaphyseal Chondrodysplasia. 
  P. Hermanns and B. Lee, Atlas of Genetics and Cytogenetics in Oncology and Haemotology
  http://AtlasGeneticsOncology.org
  1/1/2007
• RMRP. 
  P. Hermanns, K. Reicherter, and B. Lee, Atlas of Genetics and Cytogenetics in Oncology and Haemotology
  http://AtlasGeneticsOncology.org
  1/1/2007
• Urea Cycle Disorders. 
  B. Lee, Uptodate in Pediatrics
  www.uptodate.com
  1/1/2006
• Urgent Treatment of Urea Cycle Defects. 
  W. M. McCormack and B. Lee, Uptodate in Pediatrics
  www.uptodate.com
  1/1/2001
• Methylmalonic Acidemia. 
  O. Bodamer and B. Lee, eMedicine
  www.emedicine.com
  1/1/2000
• Maple Syrup Urine Disease. 
  O. Bodamer and B. Lee, eMedicine
  www.emedicine.com
  1/1/2000
• Molecular characterization of homotrimeric types II and III collagen disorders. 
  B. Lee, Graduate Thesis, State University of New York Downstate Medical Center, Department of Microbiology &
  1/1/1990
• Urea cycle disorders: Management 
  Lee B
  http://www.uptodate.com/contents/urea-cycle-disorders-management
  UpToDate, Wolters Kluwer Health - 2013-03-26
• Join now to see all