BRENDAN LEE

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Other Positions
    TitleChair
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


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    T32GM007526     (LEE, BRENDAN)Sep 30, 1978 - Jun 30, 2023
    NIH
    Medical Genetics Research Fellowship Program
    Role: Principal Investigator

    K08DK002407     (LEE, BRENDAN HL)Sep 30, 1995 - Feb 28, 2001
    NIH
    HEPATOCYTE GENE THERAPY FOR CITRULLINEMIA
    Role: Principal Investigator

    R55AR044738     (LEE, BRENDAN HL)Sep 30, 1997 - Mar 31, 1998
    NIH
    TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Role: Principal Investigator

    R01AR044738     (LEE, BRENDAN HL)Apr 1, 1998 - Mar 31, 2003
    NIH
    TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Role: Principal Investigator

    R29AR044738     (LEE, BRENDAN HL)Apr 1, 1998 - Mar 31, 2003
    NIH
    TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Role: Principal Investigator

    R01DK054450     (LEE, BRENDAN HL)Sep 30, 1998 - Jul 31, 2009
    NIH
    Enteral Precursors for Urea Synthesis in Humans
    Role: Principal Investigator

    R01DK056787     (LEE, BRENDAN HL)Apr 15, 2001 - Jan 31, 2007
    NIH
    Adenoviral hepatocyte gene therapy in Citrullinemia
    Role: Principal Investigator

    P01ES011253     (LEE, BRENDAN HL)Jul 15, 2001 - May 31, 2007
    NIH
    GENETIC &ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Role: Principal Investigator

    R01DE016990     (LEE, BRENDAN)Aug 1, 2005 - Jul 31, 2010
    NIH
    Transcriptional Regulation of Craniofacial Skeletogenesis
    Role: Principal Investigator

    R01DE017713     (LEE, BRENDAN HL)Aug 1, 2006 - Apr 30, 2011
    NIH
    Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Role: Principal Investigator

    R01HL087836     (LEE, BRENDAN HL)Dec 21, 2007 - Nov 30, 2011
    NIH
    In vivo function and tolerance to Factor VIII variants
    Role: Principal Investigator

    R13HD062130     (LE MONS, CYNTHIA)Aug 1, 2009 - Jul 31, 2013
    NIH
    Urea Cycle Disorders Satellite Symposium: 11th International Meeting
    Role: Co-Principal Investigator

    R01GM090310     (LEE, BRENDAN)Sep 30, 2009 - Aug 31, 2014
    NIH
    Argininosuccinate Lyase is an essential regulator of systemic nitric oxide produc
    Role: Principal Investigator

    R01DK092921     (LEE, BRENDAN)Jul 1, 2011 - May 31, 2017
    NIH
    Phenylbutyrate therapy for maple syrup urine disease
    Role: Principal Investigator

    P01HD070394     (LEE, BRENDAN)Sep 15, 2011 - Jun 30, 2021
    NIH
    Pathogenesis of Novel Forms of Osteogenesis Imperfecta
    Role: Principal Investigator

    R13AR065806     (LEE, BRENDAN)Sep 25, 2013 - Aug 31, 2014
    NIH
    2014 Bones and Teeth Gordon Research Conference and Gordon Research Seminar
    Role: Principal Investigator

    U01HG007709     (LEE, BRENDAN)Jul 1, 2014 - Jun 30, 2022
    NIH
    BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)
    Role: Principal Investigator

    U54AR068069     (LEE, BRENDAN)Aug 6, 2014 - Aug 31, 2024
    NIH
    BRITTLE BONE DISORDERS CONSORTIUM OF THE RARE DISEASE CLINICAL RESEARCH NETWORK
    Role: Principal Investigator

    R01DK102641     (LEE, BRENDAN)Sep 1, 2014 - Aug 31, 2020
    NIH
    Argininosuccinate lyase is an essential regulator of systemic nitric oxide produc
    Role: Principal Investigator

    R01AR071741     (LEE, BRENDAN)Apr 1, 2017 - Mar 31, 2021
    NIH
    Nitric Oxide and Bone Homeostasis in Patients with Argininosuccinate Lyase Deficiency
    Role: Principal Investigator

    R13AR074876     (LEE, BRENDAN)Sep 1, 2018 - Aug 31, 2019
    NIH
    Mechanistic and Therapeutic Advances in Rare Skeletal Disease
    Role: Principal Investigator

    U54OD030165     (HEANEY, JASON D)Sep 15, 2020 - Aug 31, 2025
    NIH
    BCM Center for Precision Medicine Models
    Role: Co-Principal Investigator

    OT2OD031932     (LEE, BRENDAN)Jul 1, 2021 - Jun 30, 2026
    NIH
    ALL OF US EVENINGS WITH GENETICS RESEARCH EDUCATION PROGRAM
    Role: Principal Investigator

    R01DE031162     (LEE, BRENDAN)Sep 10, 2021 - Aug 31, 2026
    NIH
    WNT1 Function in Stem Cells in Osteogenesis Imperfecta and Craniofacial-Skeletal Tissues
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Jayaram P, Kang GE, Heldt BL, Sokunbi O, Song B, Yeh PC, Epstein M, Shybut TB, Lee BH, Najafi B. Novel assessment of leukocyte-rich platelet-rich plasma on functional and patient-reported outcomes in knee osteoarthritis: a pilot study. Regen Med. 2021 09; 16(9):823-832. PMID: 34424054.
      Citations:    Fields:    Translation:HumansCells
    2. Grol MW, Haelterman NA, Lim J, Munivez EM, Archer M, Hudson DM, Tufa SF, Keene DR, Lei K, Park D, Kuzawa CD, Ambrose CG, Eyre DR, Lee BH. Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta. Elife. 2021 05 26; 10. PMID: 34036937.
      Citations:    Fields:    Translation:AnimalsCells
    3. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Yang Y, Posey JE, Lee BH. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045. PMID: 33847457.
      Citations:    Fields:    
    4. Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Am J Obstet Gynecol MFM. 2021 07; 3(4):100362. PMID: 33781976.
      Citations:    Translation:Humans
    5. Surface LE, Burrow DT, Li J, Park J, Kumar S, Lyu C, Song N, Yu Z, Rajagopal A, Bae Y, Lee BH, Mumm S, Gu CC, Baker JC, Mohseni M, Sum M, Huskey M, Duan S, Bijanki VN, Civitelli R, Gardner MJ, McAndrew CM, Ricci WM, Gurnett CA, Diemer K, Wan F, Costantino CL, Shannon KM, Raje N, Dodson TB, Haber DA, Carette JE, Varadarajan M, Brummelkamp TR, Birsoy K, Sabatini DM, Haller G, Peterson TR. ATRAID regulates the action of nitrogen-containing bisphosphonates on bone. Sci Transl Med. 2020 05 20; 12(544). PMID: 32434850.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    6. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. PMID: 32424177.
      Citations: 3     Fields:    Translation:Humans
    7. Zieba JT, Chen YT, Lee BH, Bae Y. Notch Signaling in Skeletal Development, Homeostasis and Pathogenesis. Biomolecules. 2020 02 19; 10(2). PMID: 32092942.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    8. Stevens Smith H, Russell HV, Lee BH, Morain SR. Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. Genet Med. 2020 01; 22(1):69-76. PMID: 31273346.
      Citations: 4     Fields:    Translation:Humans
    9. Hu T, Kitano A, Luu V, Dawson B, Hoegenauer KA, Lee BH, Nakada D. Bmi1 Suppresses Adipogenesis in the Hematopoietic Stem Cell Niche. Stem Cell Reports. 2019 09 10; 13(3):545-558. PMID: 31257132.
      Citations: 9     Fields:    Translation:AnimalsCells
    10. Jayaram P, Yeh P, Patel SJ, Cela R, Shybut TB, Grol MW, Lee BH. Effects of Aspirin on Growth Factor Release From Freshly Isolated Leukocyte-Rich Platelet-Rich Plasma in Healthy Men: A Prospective Fixed-Sequence Controlled Laboratory Study. Am J Sports Med. 2019 04; 47(5):1223-1229. PMID: 30888847.
      Citations: 6     Fields:    Translation:HumansCells
    11. Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Campeau PM. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178. PMID: 30580808.
      Citations: 17     Fields:    Translation:Humans
    12. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479. PMID: 30569621.
      Citations: 3     Translation:Humans
    13. Stone A, Grol MW, Ruan MZC, Dawson B, Chen Y, Jiang MM, Song IW, Jayaram P, Cela R, Gannon F, Lee BHL. Combinatorial Prg4 and Il-1ra Gene Therapy Protects Against Hyperalgesia and Cartilage Degeneration in Post-Traumatic Osteoarthritis. Hum Gene Ther. 2019 02; 30(2):225-235. PMID: 30070147.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    14. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647.
      Citations: 67     Fields:    Translation:HumansAnimals
    15. Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 08 02; 103(2):276-287. PMID: 30075114.
      Citations: 6     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    16. Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162. PMID: 29961569.
      Citations: 11     Fields:    Translation:HumansCells
    17. Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med. 2019 01; 21(1):3-16. PMID: 29760485.
      Citations: 24     Fields:    Translation:Humans
    18. Grol MW, Lee BH. Gene therapy for repair and regeneration of bone and cartilage. Curr Opin Pharmacol. 2018 06; 40:59-66. PMID: 29621661.
      Citations: 12     Fields:    Translation:HumansAnimals
    19. Lee B. 2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet. Am J Hum Genet. 2018 Mar 01; 102(3):359-360. PMID: 29499162.
      Citations:    Fields:    
    20. Lim J, Munivez E, Jiang MM, Song IW, Gannon F, Keene DR, Schweitzer R, Lee BH, Joeng KS. mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development. Sci Rep. 2017 12 07; 7(1):17175. PMID: 29215029.
      Citations: 7     Fields:    Translation:AnimalsCells
    21. Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823. PMID: 29100092.
      Citations: 8     Fields:    Translation:Humans
    22. Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH. Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis. J Clin Invest. 2017 Jun 30; 127(7):2678-2688. PMID: 28628032.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    23. Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Mol Genet Metab Rep. 2017 Sep; 12:57-61. PMID: 28626639.
      Citations: 1     
    24. Zeng HC, Bae Y, Dawson BC, Chen Y, Bertin T, Munivez E, Campeau PM, Tao J, Chen R, Lee BH. MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-ß signalling in osteoblasts. Nat Commun. 2017 04 11; 8:15000. PMID: 28397831.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    25. Lee B. 2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy. Am J Hum Genet. 2017 Mar 02; 100(3):397-400. PMID: 28257687.
      Citations:    Fields:    Translation:Humans
    26. Hudson DM, Weis M, Rai J, Joeng KS, Dimori M, Lee BH, Morello R, Eyre DR. P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. J Biol Chem. 2017 03 03; 292(9):3877-3887. PMID: 28115524.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    27. Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr; 62(4):465-471. PMID: 28003643.
      Citations: 1     Fields:    Translation:Humans
    28. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 28206698.
      Citations: 7     Fields:    Translation:AnimalsCells
    29. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 28299356.
      Citations: 4     Fields:    Translation:Humans
    30. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 28263186.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    31. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 27888646.
      Citations: 2     Translation:Humans
    32. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 25957469.
      Citations: 22     Fields:    Translation:Humans
    33. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 26693895.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    34. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 27626040.
      Citations: 10     
    35. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 25419514.
      Citations: 9     
    36. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23928557.
      Citations: 35     Fields:    Translation:AnimalsCells
    37. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 25203324.
      Citations: 51     Fields:    Translation:HumansAnimalsCells
    38. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30044894.
      Citations: 12     Fields:    Translation:AnimalsCells
    39. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30246918.
      Citations: 2     Translation:HumansCells
    40. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30670878.
      Citations: 10     Fields:    Translation:Humans
    41. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30046660.
      Citations: 4     
    42. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 32197074.
      Citations: 8     Fields:    Translation:Humans
    43. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 32336750.
      Citations: 3     Fields:    Translation:Humans
    44. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 31303264.
      Citations: 6     Fields:    Translation:Humans
    45. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 31876392.
      Citations: 5     Fields:    Translation:Humans
    46. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 34161280.
      Citations:    Fields:    
    47. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 34740257.
      Citations:    Fields:    
    48. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 15336649.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    49. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 19520195.
      Citations: 40     Fields:    Translation:AnimalsCells
    50. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 18386804.
      Citations: 3     Fields:    Translation:HumansCells
    51. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23319058.
      Citations: 28     Fields:    Translation:AnimalsCells
    52. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 16838329.
      Citations: 21     Translation:HumansCells
    53. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 21887706.
      Citations: 34     Fields:    Translation:AnimalsCells
    54. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23467562.
      Citations: 28     Fields:    Translation:AnimalsCells
    55. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 18289904.
      Citations: 30     Fields:    Translation:Humans
    56. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 17235317.
      Citations: 79     Fields:    Translation:AnimalsCells
    57. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 17055431.
      Citations: 188     Fields:    Translation:HumansAnimalsCells
    58. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22991339.
      Citations: 28     Fields:    Translation:AnimalsCells
    59. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 16772445.
      Citations: 6     Fields:    Translation:Animals
    60. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 12210319.
      Citations: 19     Fields:    Translation:HumansCells
    61. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 12952936.
      Citations: 115     Fields:    Translation:HumansAnimalsCells
    62. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22468961.
      Citations: 5     Fields:    Translation:AnimalsCells
    63. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22961727.
      Citations: 28     Fields:    Translation:HumansCTClinical Trials
    64. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 15694178.
      Citations: 10     Fields:    Translation:AnimalsCells
    65. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 20573946.
      Citations: 10     Fields:    Translation:Animals
    66. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22987818.
      Citations: 12     Fields:    Translation:HumansCells
    67. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23448908.
      Citations: 2     Fields:    Translation:HumansCells
    68. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 20485499.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    69. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 12718908.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    70. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 15050979.
      Citations: 42     Fields:    Translation:Humans
    71. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 21245323.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    72. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 18487507.
      Citations: 20     Fields:    Translation:HumansCells
    73. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22265014.
      Citations: 49     Fields:    Translation:HumansAnimals
    74. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 16227112.
      Citations: 7     Fields:    Translation:Humans
    75. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 21826736.
      Citations: 58     Fields:    Translation:HumansCells
    76. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 18424451.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    77. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 19228774.
      Citations: 82     Fields:    Translation:HumansAnimalsCells
    78. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 17332192.
      Citations: 25     Fields:    Translation:Humans
    79. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 16176871.
      Citations: 3     Fields:    Translation:Humans
    80. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 19805143.
      Citations: 31     Fields:    Translation:AnimalsCells
    81. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22498974.
      Citations: 81     Fields:    Translation:AnimalsCells
    82. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23443412.
      Citations: 20     Fields:    Translation:Humans
    83. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23731537.
      Citations: 36     Fields:    Translation:HumansCells
    84. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 24465224.
      Citations: 14     Fields:    Translation:AnimalsCells
    85. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 24630270.
      Citations: 13     Fields:    Translation:HumansCTClinical Trials
    86. Yu C, Wang H, Muscarella A, Goldstein A, Zeng HC, Bae Y, Lee BH, Zhang XH. Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis. J Vis Exp. 2016 09 26; (115). PMID: 27768029.
      Citations: 11     Fields:    Translation:HumansAnimals
    87. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. PMID: 26586473.
      Citations: 4     Fields:    Translation:HumansCTClinical Trials
    88. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27. PMID: 26358771.
      Citations: 13     Fields:    Translation:HumansAnimals
    89. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    90. Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet. 2015 May 07; 96(5):816-25. PMID: 25865493.
      Citations: 29     Fields:    Translation:HumansCells
    91. Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959.
      Citations: 1     Translation:HumansCells
    92. Hudson DM, Joeng KS, Werther R, Rajagopal A, Weis M, Lee BH, Eyre DR. Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. J Biol Chem. 2015 Mar 27; 290(13):8613-22. PMID: 25645914.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    93. Lu JT, Campeau PM, Lee BH. Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing. N Engl J Med. 2014 Aug 14; 371(7):593-6. PMID: 25119605.
      Citations: 29     Fields:    Translation:Humans
    94. Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res. 2014 Aug; 29(8):1815-1822. PMID: 24644033.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    95. Tso SC, Gui WJ, Wu CY, Chuang JL, Qi X, Skvora KJ, Dork K, Wallace AL, Morlock LK, Lee BH, Hutson SM, Strom SC, Williams NS, Tambar UK, Wynn RM, Chuang DT. Benzothiophene carboxylate derivatives as novel allosteric inhibitors of branched-chain a-ketoacid dehydrogenase kinase. J Biol Chem. 2014 Jul 25; 289(30):20583-93. PMID: 24895126.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    96. Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov; 99(11):E2451-6. PMID: 25050900.
      Citations: 11     Fields:    Translation:Humans
    97. Burrage LC, Jain M, Gandolfo L, Lee BH, Nagamani SC. Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):131-5. PMID: 25042691.
      Citations: 19     Fields:    Translation:Humans
    98. Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, Bächinger HP, Lee B. Excessive transforming growth factor-ß signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun; 20(6):670-5. PMID: 24793237.
      Citations: 113     Fields:    Translation:AnimalsCells
    99. Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Connective tissue alterations in Fkbp10-/- mice. Hum Mol Genet. 2014 Sep 15; 23(18):4822-31. PMID: 24777781.
      Citations: 26     Fields:    Translation:HumansAnimals
    100. Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15; 23(R1):R1-8. PMID: 24651065.
      Citations: 41     Fields:    Translation:HumansAnimals
    101. Joeng KS, Lee YC, Jiang MM, Bertin TK, Chen Y, Abraham AM, Ding H, Bi X, Ambrose CG, Lee BH. The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet. 2014 Aug 01; 23(15):4035-42. PMID: 24634143.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    102. Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014 Feb; 124(2):491-8. PMID: 24463451.
      Citations: 45     Fields:    Translation:Humans
    103. Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014; 1:213-219. PMID: 25019053.
      Citations: 6     
    104. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58. PMID: 24291220.
      Citations: 46     Fields:    Translation:Humans
    105. Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov; 28(11):2333-7. PMID: 23674381.
      Citations: 11     Fields:    Translation:HumansCells
    106. Ruan MZ, Patel RM, Dawson BC, Jiang MM, Lee BH. Pain, motor and gait assessment of murine osteoarthritis in a cruciate ligament transection model. Osteoarthritis Cartilage. 2013 Sep; 21(9):1355-64. PMID: 23973150.
      Citations: 20     Fields:    Translation:AnimalsCells
    107. Zhong L, Li S, Li M, Xie J, Zhang Y, Lee B, Batshaw ML, Wilson JM, Gao G. Vector sequences are not detected in tumor tissue from research subjects with ornithine transcarbamylase deficiency who previously received adenovirus gene transfer. Hum Gene Ther. 2013 Sep; 24(9):814-9. PMID: 24010702.
      Citations: 1     Fields:    Translation:HumansCells
    108. Zhong L, Li S, Li M, Xie J, Zhang Y, Lee BH, Batshaw ML, Wilson JM, Gao G. Vector Sequences Are Not Detected In Tumor Tissue From Research Subjects With Ornithine Transcarbamylase Deficiency Who Previously Received Adenovirus Gene Transfer. Hum Gene Ther. 2013 Aug 27. PMID: 23980918.
      Citations:    
    109. Chen S, Lee BH, Bae Y. Notch signaling in skeletal stem cells. Calcif Tissue Int. 2014 Jan; 94(1):68-77. PMID: 23963632.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    110. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul; 28(7):1523-30. PMID: 23408678.
      Citations: 32     Fields:    Translation:HumansCTClinical Trials
    111. Tso SC, Qi X, Gui WJ, Chuang JL, Morlock LK, Wallace AL, Ahmed K, Laxman S, Campeau PM, Lee BH, Hutson SM, Tu BP, Williams NS, Tambar UK, Wynn RM, Chuang DT. Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain a-ketoacid dehydrogenase kinase. Proc Natl Acad Sci U S A. 2013 Jun 11; 110(24):9728-33. PMID: 23716694.
      Citations: 19     Fields:    Translation:AnimalsCells
    112. Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16. PMID: 23656646.
      Citations: 126     Fields:    Translation:HumansAnimals
    113. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 02; 92(5):781-91. PMID: 23623387.
      Citations: 54     Fields:    Translation:HumansAnimalsCells
    114. Yang T, Grafe I, Bae Y, Chen S, Chen Y, Bertin TK, Jiang MM, Ambrose CG, Lee B. E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-ß in the bone microenvironment. Proc Natl Acad Sci U S A. 2013 Apr 30; 110(18):7336-41. PMID: 23589896.
      Citations: 17     Fields:    Translation:AnimalsCells
    115. Ruan MZ, Erez A, Guse K, Dawson B, Bertin T, Chen Y, Jiang MM, Yustein J, Gannon F, Lee BH. Proteoglycan 4 expression protects against the development of osteoarthritis. Sci Transl Med. 2013 Mar 13; 5(176):176ra34. PMID: 23486780.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    116. Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013; 8(2):e57460. PMID: 23451234.
      Citations: 13     Fields:    Translation:AnimalsCells
    117. Ruan MZ, Dawson B, Jiang MM, Gannon F, Heggeness M, Lee BH. Quantitative imaging of murine osteoarthritic cartilage by phase-contrast micro-computed tomography. Arthritis Rheum. 2013 Feb; 65(2):388-96. PMID: 23124630.
      Citations: 22     Fields:    Translation:AnimalsCells
    118. Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr. 2013 Jun; 162(6):1228-34, 1234.e1. PMID: 23324524.
      Citations: 15     Fields:    Translation:HumansCTClinical Trials
    119. Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 01; 22(5):1026-38. PMID: 23221805.
      Citations: 16     Fields:    Translation:HumansAnimals
    120. Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102. PMID: 23033274.
      Citations: 24     Fields:    Translation:HumansCells
    121. Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab. 2012 Nov; 107(3):315-21. PMID: 23040521.
      Citations: 12     Fields:    Translation:Humans
    122. Guse K, Suzuki M, Sule G, Bertin TK, Tyynismaa H, Ahola-Erkkilä S, Palmer D, Suomalainen A, Ng P, Cerullo V, Hemminki A, Lee B. Capsid-modified adenoviral vectors for improved muscle-directed gene therapy. Hum Gene Ther. 2012 Oct; 23(10):1065-70. PMID: 22888960.
      Citations: 12     Fields:    Translation:AnimalsCells
    123. Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15; 21(22):4904-9. PMID: 22875837.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    124. Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4. PMID: 22887731.
      Citations: 6     Fields:    Translation:Humans
    125. Napierala D, Sun Y, Maciejewska I, Bertin TK, Dawson B, D'Souza R, Qin C, Lee B. Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. J Bone Miner Res. 2012 Aug; 27(8):1735-45. PMID: 22508542.
      Citations: 9     Fields:    Translation:AnimalsCells
    126. Nagamani SC, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep; 107(1-2):10-4. PMID: 22841516.
      Citations: 4     Fields:    Translation:Humans
    127. Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5. PMID: 22715153.
      Citations: 28     Fields:    Translation:HumansCells
    128. Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15; 21(18):4115-25. PMID: 22723016.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    129. Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul; 158A(7):1785-7. PMID: 22639458.
      Citations: 7     Translation:Humans
    130. Tighe MK, Savage R, Vrbova L, Toolan M, Whitfield Y, Varga C, Lee B, Allen V, Maki A, Walton R, Johnson C, Dhar B, Ahmed R, Crowcroft NS, Middleton D. The epidemiology of travel-related Salmonella Enteritidis in Ontario, Canada, 2010-2011. BMC Public Health. 2012 May 18; 12:310. PMID: 22537320.
      Citations: 10     Fields:    Translation:HumansCells
    131. Gurha P, Abreu-Goodger C, Wang T, Ramirez MO, Drumond AL, van Dongen S, Chen Y, Bartonicek N, Enright AJ, Lee B, Kelm RJ, Reddy AK, Taffet GE, Bradley A, Wehrens XH, Entman ML, Rodriguez A. Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation. 2012 Jun 05; 125(22):2751-61. PMID: 22570371.
      Citations: 67     Fields:    Translation:AnimalsCells
    132. Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 04; 90(5):836-46. PMID: 22541557.
      Citations: 17     Fields:    Translation:HumansAnimals
    133. Choudhry KS, Grover M, Tran AA, O'Brian Smith E, Ellis KJ, Lee BH. Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? Mol Genet Metab. 2012 Jun; 106(2):237-40. PMID: 22551697.
      Citations: 3     Fields:    Translation:HumansCells
    134. Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 May; 14(5):501-7. PMID: 22241104.
      Citations: 21     Fields:    Translation:HumansPHPublic Health
    135. Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13; 17(12):1619-26. PMID: 22081021.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    136. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79. PMID: 21948486.
      Citations: 19     Fields:    Translation:HumansCells
    137. Suzuki M, Cela R, Bertin TK, Sule G, Cerullo V, Rodgers JR, Lee B. NOD2 signaling contributes to the innate immune response against helper-dependent adenovirus vectors independently of MyD88 in vivo. Hum Gene Ther. 2011 Sep; 22(9):1071-82. PMID: 21561248.
      Citations: 12     Fields:    Translation:AnimalsCells
    138. Lee B, Davidson BL. Gene therapy grows into young adulthood: special review issue. Hum Mol Genet. 2011 Apr 15; 20(R1):R1. PMID: 21571785.
      Citations: 6     Fields:    Translation:Humans
    139. Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun; 93(6):1248-54. PMID: 21490144.
      Citations: 3     Fields:    Translation:Humans
    140. Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 08; 88(4):402-21. PMID: 21473982.
      Citations: 17     Fields:    Translation:Humans
    141. Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar; 26(3):666-72. PMID: 20839288.
      Citations: 58     Fields:    Translation:HumansCells
    142. Tao J, Erez A, Lee B. One NOTCH Further: Jagged 1 in Bone Metastasis. Cancer Cell. 2011 Feb 15; 19(2):159-61. PMID: 21316596.
      Citations: 9     Fields:    
    143. Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet. 2011 Feb 15; 157C(1):45-53. PMID: 21312326.
      Citations: 24     Fields:    Translation:HumansPHPublic Health
    144. Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B. Interaction of TGFß and BMP signaling pathways during chondrogenesis. PLoS One. 2011 Jan 28; 6(1):e16421. PMID: 21297990.
      Citations: 48     Fields:    Translation:AnimalsCells
    145. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748.
      Citations: 23     Fields:    Translation:HumansAnimalsCells
    146. Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet. 2011 Feb 15; 20(4):631-40. PMID: 21098507.
      Citations: 32     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    147. Marini JC, Keller B, Didelija IC, Castillo L, Lee B. Enteral arginase II provides ornithine for citrulline synthesis. Am J Physiol Endocrinol Metab. 2011 Jan; 300(1):E188-94. PMID: 20978229.
      Citations: 13     Fields:    Translation:Animals
    148. Tao J, Chen S, Yang T, Dawson B, Munivez E, Bertin T, Lee B. Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. J Bone Miner Res. 2010 Oct; 25(10):2175-83. PMID: 20499347.
      Citations: 40     Fields:    Translation:AnimalsCells
    149. Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J Clin Invest. 2010 Jul; 120(7):2474-85. PMID: 20530870.
      Citations: 13     Fields:    Translation:AnimalsCells
    150. Marini JC, Didelija IC, Castillo L, Lee B. Glutamine: precursor or nitrogen donor for citrulline synthesis? Am J Physiol Endocrinol Metab. 2010 Jul; 299(1):E69-79. PMID: 20407005.
      Citations: 22     Fields:    Translation:Animals
    151. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 09; 86(4):551-9. PMID: 20362275.
      Citations: 113     Fields:    Translation:Humans
    152. Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab. 2010 Jul; 100(3):221-8. PMID: 20382058.
      Citations: 31     Fields:    Translation:HumansCTClinical Trials
    153. Suzuki M, Cerullo V, Bertin TK, Cela R, Clarke C, Guenther M, Brunetti-Pierri N, Lee B. MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus. Hum Gene Ther. 2010 Mar; 21(3):325-36. PMID: 19824822.
      Citations: 19     Fields:    Translation:AnimalsCells
    154. Tao J, Chen S, Lee B. Alteration of Notch signaling in skeletal development and disease. Ann N Y Acad Sci. 2010 Mar; 1192:257-68. PMID: 20392245.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    155. Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010; 100 Suppl 1:S84-7. PMID: 20223690.
      Citations: 10     Fields:    Translation:Humans
    156. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. PMID: 20188616.
      Citations: 41     Fields:    Translation:Humans
    157. Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010; 11:189-217. PMID: 20690819.
      Citations: 25     Fields:    Translation:HumansCells
    158. Suzuki M, Cela R, Clarke C, Bertin TK, Mouriño S, Lee B. Large-scale production of high-quality helper-dependent adenoviral vectors using adherent cells in cell factories. Hum Gene Ther. 2010 Jan; 21(1):120-6. PMID: 19719388.
      Citations: 23     Fields:    Translation:HumansCells
    159. Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab. 2009 Sep-Oct; 98(1-2):195-7. PMID: 19592285.
      Citations: 18     Fields:    Translation:Humans
    160. Zheng Q, Keller B, Zhou G, Napierala D, Chen Y, Zabel B, Parker AE, Lee B. Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo. J Bone Miner Res. 2009 Jun; 24(6):1022-32. PMID: 19113928.
      Citations: 18     Fields:    Translation:AnimalsCells
    161. Gau CL, Rosenblatt RA, Cerullo V, Lay FD, Dow AC, Livesay J, Brunetti-Pierri N, Lee B, Cederbaum SD, Grody WW, Lipshutz GS. Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther. 2009 Jul; 17(7):1155-63. PMID: 19367256.
      Citations: 22     Fields:    Translation:AnimalsCells
    162. Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet. 2009 Sep; 17(9):1141-7. PMID: 19277063.
      Citations: 12     Fields:    Translation:HumansCells
    163. Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab. 2009 Mar; 96(3):97-105. PMID: 19138872.
      Citations: 19     Fields:    Translation:HumansCells
    164. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71. PMID: 19029900.
      Citations: 233     Fields:    Translation:HumansCells
    165. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008 Dec; 29(12):1435-42. PMID: 18566967.
      Citations: 92     Fields:    Translation:Humans
    166. Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol. 2008 Oct; 217(1):127-37. PMID: 18446812.
      Citations: 23     Fields:    Translation:AnimalsCells
    167. Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors. J Gene Med. 2008 Aug; 10(8):890-6. PMID: 18563850.
      Citations: 9     Fields:    Translation:AnimalsCells
    168. Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 2008 Oct; 97(10):1420-5. PMID: 18647279.
      Citations: 57     Fields:    Translation:Humans
    169. Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008 Aug; 94(4):397-402. PMID: 18562231.
      Citations: 95     Fields:    Translation:Humans
    170. Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton RE, Boyce BF, Lee B. Dimorphic effects of Notch signaling in bone homeostasis. Nat Med. 2008 Mar; 14(3):299-305. PMID: 18297084.
      Citations: 173     Fields:    Translation:HumansAnimalsCells
    171. Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A. 2008 Feb 15; 146A(4):453-8. PMID: 18203189.
      Citations: 3     Fields:    Translation:HumansCells
    172. Holder AM, Graham BH, Lee B, Scott DA. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. 2007 Nov 01; 143A(21):2576-80. PMID: 17394214.
      Citations: 1     Translation:Humans
    173. Marini JC, Erez A, Castillo L, Lee B. Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes. Am J Physiol Endocrinol Metab. 2007 Dec; 293(6):E1764-71. PMID: 17925451.
      Citations: 8     Fields:    Translation:Animals
    174. Seiler MP, Cerullo V, Lee B. Immune response to helper dependent adenoviral mediated liver gene therapy: challenges and prospects. Curr Gene Ther. 2007 Oct; 7(5):297-305. PMID: 17979676.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    175. Cerullo V, Seiler MP, Mane V, Cela R, Clarke C, Kaufman RJ, Pipe SW, Lee B. Correction of murine hemophilia A and immunological differences of factor VIII variants delivered by helper-dependent adenoviral vectors. Mol Ther. 2007 Dec; 15(12):2080-7. PMID: 17848960.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    176. Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1071-81. PMID: 17431898.
      Citations: 17     Translation:HumansCells
    177. Seiler MP, Gottschalk S, Cerullo V, Ratnayake M, Mane VP, Clarke C, Palmer DJ, Ng P, Rooney CM, Lee B. Dendritic cell function after gene transfer with adenovirus-calcium phosphate co-precipitates. Mol Ther. 2007 Feb; 15(2):386-92. PMID: 17235318.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    178. Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet. 2007 Feb 15; 16(4):424-30. PMID: 17210672.
      Citations: 33     Fields:    Translation:HumansCells
    179. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28; 355(26):2757-64. PMID: 17192541.
      Citations: 111     Fields:    Translation:HumansCells
    180. Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12; 103(50):19004-9. PMID: 17142326.
      Citations: 139     Fields:    Translation:AnimalsCells
    181. McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb; 90(2):217-20. PMID: 17005426.
      Citations: 5     Fields:    Translation:Humans
    182. Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006 Jun; 7(6):449-60. PMID: 16708072.
      Citations: 36     Fields:    Translation:HumansCells
    183. Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):113-20. PMID: 16602094.
      Citations: 26     Fields:    Translation:HumansAnimals
    184. Marini JC, Lee B, Garlick PJ. Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice. J Nutr. 2006 Apr; 136(4):1017-20. PMID: 16549467.
      Citations: 3     Fields:    Translation:Animals
    185. Li J, Lee B, Lee AS. Endoplasmic reticulum stress-induced apoptosis: multiple pathways and activation of p53-up-regulated modulator of apoptosis (PUMA) and NOXA by p53. J Biol Chem. 2006 Mar 17; 281(11):7260-70. PMID: 16407291.
      Citations: 182     Fields:    Translation:HumansAnimalsCells
    186. Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40. PMID: 16254002.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    187. Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M. Nutritional management of urea cycle disorders. Crit Care Clin. 2005 Oct; 21(4 Suppl):S27-35. PMID: 16227113.
      Citations: 13     Fields:    Translation:Humans
    188. Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005 Oct; 21(4 Suppl):S1-8. PMID: 16227111.
      Citations: 30     Fields:    Translation:HumansPHPublic Health
    189. Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M. Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin. 2005 Oct; 21(4 Suppl):S9-17. PMID: 16227115.
      Citations: 20     Fields:    Translation:Humans
    190. Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML. Genetic counseling issues in urea cycle disorders. Crit Care Clin. 2005 Oct; 21(4 Suppl):S37-44. PMID: 16227114.
      Citations: 6     Fields:    Translation:Humans
    191. Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A. 2005 Sep 15; 138(1):35-40. PMID: 16097009.
      Citations: 4     Translation:Humans
    192. Mohrmann G, Hengstler JG, Hofmann TG, Endele SU, Lee B, Stelzer C, Zabel B, Brieger J, Hasenclever D, Tanner B, Sagemueller J, Sehouli J, Will H, Winterpacht A. SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer. Int J Cancer. 2005 Sep 10; 116(4):547-54. PMID: 15825179.
      Citations: 9     Fields:    Translation:HumansCells
    193. Brunetti-Pierri N, Lee B. Gene therapy for inborn errors of liver metabolism. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):13-24. PMID: 16154372.
      Citations: 6     Fields:    Translation:HumansCells
    194. Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):257-68. PMID: 16140555.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    195. Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug; 77(2):305-12. PMID: 15952089.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    196. Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. Am J Hum Genet. 2005 Jul; 77(1):161-8. PMID: 15924278.
      Citations: 2     Fields:    Translation:Humans
    197. Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B. Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A. 2005 Mar 15; 102(11):3930-5. PMID: 15753292.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    198. McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics. 2004 Oct; 114(4):e523-6. PMID: 15466081.
      Citations: 16     Fields:    Translation:Humans
    199. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 10; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S. PMID: 15465784.
      Citations: 21     Fields:    Translation:HumansAnimals
    200. Dreyer SD, Naruse T, Morello R, Zabel B, Winterpacht A, Johnson RL, Lee B, Oberg KC. Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets. Gene Expr Patterns. 2004 Jul; 4(4):397-405. PMID: 15183306.
      Citations: 7     Fields:    Translation:Animals
    201. Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. Am J Med Genet A. 2004 Apr 30; 126A(3):299-302. PMID: 15054846.
      Citations: 1     Translation:Humans
    202. Pastore L, Belalcazar LM, Oka K, Cela R, Lee B, Chan L, Beaudet AL. Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. Gene. 2004 Mar 03; 327(2):153-60. PMID: 14980712.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    203. Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers. Am J Clin Nutr. 2003 Oct; 78(4):749-55. PMID: 14522733.
      Citations: 1     Fields:    Translation:Humans
    204. Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet. 2003 Oct; 113(5):447-51. PMID: 12938037.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    205. Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Crane-Heise syndrome: a second familial case report with elaboration of phenotype. Am J Med Genet A. 2003 Apr 30; 118A(3):223-8. PMID: 12673651.
      Citations: 1     Translation:Humans
    206. Leroy JG, Claus L, Lee B, Mortier GR. Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. Pediatr Pathol Mol Med. 2003 Jan-Feb; 22(1):23-35. PMID: 12687887.
      Citations: 2     Fields:    Translation:Humans
    207. Mian A, Lee B. Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism. Trends Mol Med. 2002 Dec; 8(12):583-9. PMID: 12470992.
      Citations: 11     Fields:    Translation:HumansCells
    208. Hamano Y, Grunkemeyer JA, Sudhakar A, Zeisberg M, Cosgrove D, Morello R, Lee B, Sugimoto H, Kalluri R. Determinants of vascular permeability in the kidney glomerulus. J Biol Chem. 2002 Aug 23; 277(34):31154-62. PMID: 12039968.
      Citations: 41     Fields:    Translation:AnimalsCells
    209. Morello R, Lee B. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res. 2002 May; 51(5):551-8. PMID: 11978876.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    210. Miner JH, Morello R, Andrews KL, Li C, Antignac C, Shaw AS, Lee B. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest. 2002 Apr; 109(8):1065-72. PMID: 11956244.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    211. Toietta G, Pastore L, Cerullo V, Finegold M, Beaudet AL, Lee B. Generation of helper-dependent adenoviral vectors by homologous recombination. Mol Ther. 2002 Feb; 5(2):204-10. PMID: 11829528.
      Citations: 19     Fields:    Translation:AnimalsCells
    212. Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics. 2002 Jan; 109(1):150-2. PMID: 11773558.
      Citations: 9     Fields:    Translation:Humans
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