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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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    Collapse Research 
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    R01AR081904     (SONG, I-WEN)Sep 7, 2023 - Jun 30, 2028
    NIH
    Targeting TGFb In Osteogenesis Imperfecta
    Role: Co-Principal Investigator
    R01DE031162     (LEE, BRENDAN ;PARK, DONGSU)Sep 10, 2021 - Aug 31, 2026
    NIH
    WNT1 Function in Stem Cells in Osteogenesis Imperfecta and Craniofacial-Skeletal Tissues
    Role: Principal Investigator
    OT2OD031932     (LEE, BRENDAN)Jul 1, 2021 - Jun 30, 2026
    NIH
    ALL OF US EVENINGS WITH GENETICS RESEARCH EDUCATION PROGRAM
    Role: Principal Investigator
    U54OD030165     (BURRAGE, LINDSAY C;HEANEY, JASON D ;MILOSAVLJEVIC, ALEKSANDAR)Sep 15, 2020 - Aug 31, 2025
    NIH
    BCM Center for Precision Medicine Models
    Role: Co-Principal Investigator
    R13AR074876     (LEE, BRENDAN)Sep 1, 2018 - Aug 31, 2019
    NIH
    Mechanistic and Therapeutic Advances in Rare Skeletal Disease
    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
    R01DK102641     (LEE, BRENDAN)Sep 1, 2014 - Aug 31, 2020
    NIH
    Argininosuccinate lyase is an essential regulator of systemic nitric oxide produc
    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
    U01HG007709     (LEE, BRENDAN)Jul 1, 2014 - Apr 30, 2023
    NIH
    BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)
    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
    P01HD070394     (LEE, BRENDAN)Sep 15, 2011 - Jun 30, 2021
    NIH
    Pathogenesis of Novel Forms of Osteogenesis Imperfecta
    Role: Principal Investigator
    R01DK092921     (LEE, BRENDAN)Jul 1, 2011 - May 31, 2017
    NIH
    Phenylbutyrate therapy for maple syrup urine disease
    Role: 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
    R13HD062130     (LE MONS, CYNTHIA)Aug 1, 2009 - Jul 31, 2013
    NIH
    Urea Cycle Disorders Satellite Symposium: 11th International Meeting
    Role: Co-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
    R01DE017713     (LEE, BRENDAN HL)Aug 1, 2006 - Apr 30, 2011
    NIH
    Dysregulation of 3-prolyl-hydroxylation in Human Skeletal Dysplasias
    Role: Principal Investigator
    R01DE016990     (LEE, BRENDAN)Aug 1, 2005 - Jul 31, 2010
    NIH
    Transcriptional Regulation of Craniofacial Skeletogenesis
    Role: Principal Investigator
    P01ES011253     (LEE, BRENDAN HL)Jul 15, 2001 - May 31, 2007
    NIH
    GENETIC &ENVIRONMENTAL DETERMINANTS OF CRANIOFACIAL DIS
    Role: Principal Investigator
    R01DK056787     (LEE, BRENDAN HL)Apr 15, 2001 - Jan 31, 2007
    NIH
    Adenoviral hepatocyte gene therapy in Citrullinemia
    Role: Principal Investigator
    R01DK054450     (LEE, BRENDAN HL)Sep 30, 1998 - Jul 31, 2009
    NIH
    Enteral Precursors for Urea Synthesis in Humans
    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
    R55AR044738     (LEE, BRENDAN HL)Sep 30, 1997 - Mar 31, 1998
    NIH
    TRANSCRIPTIONAL REGULATORS IN CHONDROGENESIS
    Role: Principal Investigator
    K08DK002407     (LEE, BRENDAN HL)Sep 30, 1995 - Feb 28, 2001
    NIH
    HEPATOCYTE GENE THERAPY FOR CITRULLINEMIA
    Role: Principal Investigator
    T32GM007526     (LEE, BRENDAN)Sep 30, 1978 - Jun 30, 2023
    NIH
    Medical Genetics Research Fellowship Program
    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. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. PMID: 38508193.
      Citations:    Fields:    
    2. Lee B. 2023 ASHG presidential address-Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future. Am J Hum Genet. 2024 Mar 07; 111(3):407-409. PMID: 38458160; PMCID: PMC10995458.
      Citations:    Fields:    Translation:Humans
    3. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 04; 111(1):96-118. PMID: 38181735; PMCID: PMC10806447.
      Citations:    Fields:    Translation:HumansAnimals
    4. Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Undiagnosed Diseases Network, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH, Nonet ML. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. PLoS Genet. 2023 Nov; 19(11):e1011005. PMID: 37934770; PMCID: PMC10656020.
      Citations:    Fields:    Translation:HumansAnimalsCells
    5. Zhao X, Tang L, Le TP, Nguyen BH, Chen W, Zheng M, Yamaguchi H, Dawson B, You S, Martinez-Traverso IM, Erhardt S, Wang J, Li M, Martin JF, Lee BH, Komatsu Y, Wang J. Yap and Taz promote osteogenesis and prevent chondrogenesis in neural crest cells in vitro and in vivo. Sci Signal. 2022 10 25; 15(757):eabn9009. PMID: 36282910; PMCID: PMC9938793.
      Citations: 6     Fields:    Translation:Animals
    6. Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 04 22; 31(8):1325-1335. PMID: 34740257; PMCID: PMC9029232.
      Citations:    Fields:    Translation:Animals
    7. Bae Y, Zeng HC, Chen YT, Ketkar S, Munivez E, Yu Z, Gannon FH, Lee BH. miRNA-34c Suppresses Osteosarcoma Progression In Vivo by Targeting Notch and E2F. JBMR Plus. 2022 May; 6(5):e10623. PMID: 35509638; PMCID: PMC9059472.
      Citations:    
    8. Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874. PMID: 35194938.
      Citations:    Fields:    Translation:Humans
    9. Duran I, Zieba J, Csukasi F, Martin JH, Wachtell D, Barad M, Dawson B, Fafilek B, Jacobsen CM, Ambrose CG, Cohn DH, Krejci P, Lee BH, Krakow D. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. PMID: 34997935; PMCID: PMC9018561.
      Citations: 2     Fields:    Translation:AnimalsCells
    10. Marathe A, Patel SJ, Song B, Sliepka JM, Shybut TS, Lee BH, Jayaram P. Double-Spin Leukocyte-Rich Platelet-Rich Plasma Is Predominantly Lymphocyte Rich With Notable Concentrations of Other White Blood Cell Subtypes. Arthrosc Sports Med Rehabil. 2022 Apr; 4(2):e335-e341. PMID: 35494265; PMCID: PMC9042761.
      Citations:    
    11. 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; PMCID: PMC8438954.
      Citations: 1     Fields:    Translation:HumansCells
    12. Lim J, Lietman C, Grol MW, Castellon A, Dawson B, Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH. Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta. Proc Natl Acad Sci U S A. 2021 06 22; 118(25). PMID: 34161280; PMCID: PMC8237619.
      Citations: 1     Fields:    Translation:AnimalsCells
    13. 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; PMCID: PMC8186905.
      Citations:    Fields:    Translation:AnimalsCells
    14. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BH, Rosmaninho-Salgado J, Almeida PM, S? J. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045. PMID: 33847457.
      Citations: 2     Fields:    Translation:Humans
    15. 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; PMCID: PMC9448563.
      Citations: 1     Fields:    Translation:Humans
    16. 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; PMCID: PMC7882121.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    17. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, 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, Ferrero GB, Nampoothiri S, Mowat D, Patel MS, Bracho A, Gezdirici A, Hauser N, Zarate YA, Bosanko KA, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM, Verloes A, Tartaglia M, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerri?re A, Aziza J, Dubucs C, Cammarata-Scalisi F, Fernandez-Jaen A, Dieterich K. 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; PMCID: PMC7737399.
      Citations: 6     Fields:    Translation:Humans
    18. Smith HS, Swint JM, Lalani SR, de Oliveira Otto MC, Yamal JM, Russell HV, Lee BH. Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. Genet Med. 2020 08; 22(8):1303-1310. PMID: 32336750.
      Citations: 4     Fields:    Translation:Humans
    19. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    20. Zieba JT, Chen YT, Lee BH, Bae Y. Notch Signaling in Skeletal Development, Homeostasis and Pathogenesis. Biomolecules. 2020 02 19; 10(2). PMID: 32092942; PMCID: PMC7072615.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    21. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Members of the BBD Consortium, Nagamani SCS, Raggio C. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704. PMID: 31876392; PMCID: PMC7385724.
      Citations: 5     Fields:    Translation:Humans
    22. Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 09 05; 105(3):625-630. PMID: 31303264; PMCID: PMC6731352.
      Citations: 12     Fields:    Translation:Humans
    23. Stevens Smith H, Russell HV, Lee BH, Morain SR, and the Value of Exome Sequencing Delphi Panel. 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
    24. 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; PMCID: PMC6739622.
      Citations: 9     Fields:    Translation:AnimalsCells
    25. 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: 8     Fields:    Translation:HumansCells
    26. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Members of the UCDC,, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986. PMID: 30670878; PMCID: PMC6650380.
      Citations: 16     Fields:    Translation:Humans
    27. 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, 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, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM, Rosello Piera M, Orellana C, Mart?nez F, Caro-Llopis A, Monfort S, Thevenon J, Faivre L, Maurel A, Petrovski S. 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; PMCID: PMC6323608.
      Citations: 24     Fields:    Translation:Humans
    28. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, 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     Fields:    Translation:Humans
    29. 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; PMCID: PMC6383580.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    30. 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, Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139. PMID: 30304647; PMCID: PMC6481166.
      Citations: 97     Fields:    Translation:HumansAnimals
    31. Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Heterozygous WNT1 variant causing a variable bone phenotype. Am J Med Genet A. 2018 11; 176(11):2419-2424. PMID: 30246918; PMCID: PMC6289778.
      Citations: 5     Fields:    Translation:HumansCells
    32. Nixon AJ, Grol MW, Lang HM, Ruan MZC, Stone A, Begum L, Chen Y, Dawson B, Gannon F, Plutizki S, Lee BHL, Guse K. Disease-Modifying Osteoarthritis Treatment With Interleukin-1 Receptor Antagonist Gene Therapy in Small and Large Animal Models. Arthritis Rheumatol. 2018 11; 70(11):1757-1768. PMID: 30044894.
      Citations: 16     Fields:    Translation:AnimalsCells
    33. 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; PMCID: PMC6080833.
      Citations: 6     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    34. Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM, Undiagnosed Diseases Network, Dhar SU. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Aug; 4(4):e248. PMID: 30046660; PMCID: PMC6055357.
      Citations: 4     
    35. 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, Undiagnosed Diseases Network, 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; PMCID: PMC6035372.
      Citations: 12     Fields:    Translation:HumansCells
    36. 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: 31     Fields:    Translation:Humans
    37. 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: 16     Fields:    Translation:HumansAnimals
    38. 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; PMCID: PMC5985278.
      Citations:    Fields:    
    39. 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; PMCID: PMC5719403.
      Citations: 11     Fields:    Translation:AnimalsCells
    40. Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Marcelis CL, Lugtenberg D, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Lausch E, Unger S, Superti-Furga A, Lu JT, Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Lee BH, Reinhardt DP, Campeau PM, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Bartuli A, Aracena MI, Tartaglia M. 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; PMCID: PMC5673654.
      Citations: 11     Fields:    Translation:Humans
    41. 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; PMCID: PMC5490765.
      Citations: 70     Fields:    Translation:HumansAnimalsCells
    42. 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; PMCID: PMC5466597.
      Citations: 2     
    43. 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-? signalling in osteoblasts. Nat Commun. 2017 04 11; 8:15000. PMID: 28397831; PMCID: PMC5394267.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    44. Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH. Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun; 32(6):1354-1367. PMID: 28206698; PMCID: PMC5466482.
      Citations: 8     Fields:    Translation:AnimalsCells
    45. Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 03; 127(4):1475-1484. PMID: 28263186; PMCID: PMC5373861.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    46. 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; PMCID: PMC5339344.
      Citations:    Fields:    Translation:Humans
    47. Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984. PMID: 28299356; PMCID: PMC5334472.
      Citations: 5     Fields:    Translation:Humans
    48. 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; PMCID: PMC5339768.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    49. 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; PMCID: PMC5370204.
      Citations: 3     Fields:    Translation:Humans
    50. Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739. PMID: 27888646; PMCID: PMC5315610.
      Citations: 2     Fields:    Translation:Humans
    51. Ruan MZ, Cerullo V, Cela R, Clarke C, Lundgren-Akerlund E, Barry MA, Lee BH. Treatment of osteoarthritis using a helper-dependent adenoviral vector retargeted to chondrocytes. Mol Ther Methods Clin Dev. 2016; 3:16008. PMID: 27626040; PMCID: PMC5008224.
      Citations: 14     
    52. Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH. Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice. Mol Genet Metab. 2016 Mar; 117(3):378-82. PMID: 26693895; PMCID: PMC4788589.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    53. 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; PMCID: PMC4915945.
      Citations: 4     Fields:    Translation:HumansCTClinical Trials
    54. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Members of Urea Cycle Disorders Consortium, 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; PMCID: PMC5007608.
      Citations: 15     Fields:    Translation:HumansAnimals
    55. 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; PMCID: PMC4804346.
      Citations: 2     Fields:    Translation:HumansCTClinical Trials
    56. Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9. PMID: 25957469; PMCID: PMC4570285.
      Citations: 24     Fields:    Translation:Humans
    57. Gripp KW, Kousi M, Stabley D, Prudente S, Niyazov D, Nakane T, Keppler-Noreuil K, Braddock SR, Campeau PM, Lee BH, Pouponnot C, Katsanis N, Sol-Church K, Niceta M, Stellacci E, Zampino G, Anselmi M, Traversa A, Ciolfi A, Bruselles A, Caputo V, Cecchetti S, Fiorenza MT, Boitani C, Philip N, Leoni C, Gillessen-Kaesbach G, Palleschi A, Stella L, Bocchinfuso G, 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; PMCID: PMC4570552.
      Citations: 37     Fields:    Translation:HumansCells
    58. 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-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959; PMCID: PMC4449285.
      Citations: 3     Fields:    Translation:HumansCells
    59. 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; PMCID: PMC4375510.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    60. Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, Chen R, Donehower LA, Gannon F, Lee BH. Notch activation as a driver of osteogenic sarcoma. Cancer Cell. 2014 Sep 08; 26(3):390-401. PMID: 25203324; PMCID: PMC4159617.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    61. 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: 30     Fields:    Translation:Humans
    62. 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; PMCID: PMC4108531.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    63. 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; PMCID: PMC4110271.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    64. Lu JT, Kleppe S, Cassinelli H, Liu DS, Liern JM, Vallejo G, Gibbs RA, Campeau PM, Lee BH, Rajagopal A, Braslavsky D, Cl?ment F, Bergad? I. 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; PMCID: PMC4223446.
      Citations: 16     Fields:    Translation:Humans
    65. Burrage LC, Jain M, Gandolfo L, Lee BH, Members of the Urea Cycle Disorders Consortium, 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; PMCID: PMC4177960.
      Citations: 22     Fields:    Translation:Humans
    66. 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, Lee B, B?chinger HP. Excessive transforming growth factor-? signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun; 20(6):670-5. PMID: 24793237; PMCID: PMC4048326.
      Citations: 131     Fields:    Translation:AnimalsCells
    67. 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; PMCID: PMC4140464.
      Citations: 29     Fields:    Translation:HumansAnimals
    68. 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; PMCID: PMC4170715.
      Citations: 46     Fields:    Translation:HumansAnimals
    69. 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; PMCID: PMC4082367.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    70. Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. PLoS Genet. 2014 Jan; 10(1):e1004121. PMID: 24465224; PMCID: PMC3900401.
      Citations: 18     Fields:    Translation:AnimalsCells
    71. 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; PMCID: PMC4088274.
      Citations: 8     
    72. Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014; 1:176-183. PMID: 25419514; PMCID: PMC4235665.
      Citations: 10     
    73. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, van den Ende J, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Golabi M, Blair E, Male A, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM, F?lix TM, Wisniewska M, Kayserili H, Repetto GM, Giuliano F, Wieczorek D. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58. PMID: 24291220; PMCID: PMC3895324.
      Citations: 51     Fields:    Translation:Humans
    74. 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; PMCID: PMC3800501.
      Citations: 15     Fields:    Translation:HumansCells
    75. 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; PMCID: PMC3768231.
      Citations: 1     Fields:    Translation:HumansCells
    76. 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:    
    77. Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP, Liu CJ. ADAMTS-7 forms a positive feedback loop with TNF-a in the pathogenesis of osteoarthritis. Ann Rheum Dis. 2014 Aug; 73(8):1575-84. PMID: 23928557; PMCID: PMC4418017.
      Citations: 38     Fields:    Translation:AnimalsCells
    78. 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; PMCID: PMC3688672.
      Citations: 37     Fields:    Translation:HumansCTClinical Trials
    79. 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; PMCID: PMC3683707.
      Citations: 22     Fields:    Translation:AnimalsCells
    80. Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000. PMID: 23731537; PMCID: PMC3675240.
      Citations: 41     Fields:    Translation:HumansCells
    81. 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, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Laine CM, Kr?ger H, M?kitie O. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16. PMID: 23656646; PMCID: PMC3709450.
      Citations: 146     Fields:    Translation:HumansAnimals
    82. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH, Rom?n Corona-Rivera J. Yunis-Var?n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 02; 92(5):781-91. PMID: 23623387; PMCID: PMC3644641.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    83. Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80. PMID: 23448908; PMCID: PMC3673284.
      Citations: 2     Fields:    Translation:HumansCells
    84. 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; PMCID: PMC3804124.
      Citations: 80     Fields:    Translation:HumansAnimalsCells
    85. 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; PMCID: PMC3779602.
      Citations: 24     Fields:    Translation:AnimalsCells
    86. Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH, H?gler W. 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; PMCID: PMC3607481.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    87. 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; PMCID: PMC3429634.
      Citations: 10     Fields:    Translation:Humans
    88. 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; PMCID: PMC3696352.
      Citations: 32     Fields:    Translation:HumansCells
    89. Bae Y, Yang T, Zeng HC, Campeau PM, Chen Y, Bertin T, Dawson BC, Munivez E, Tao J, Lee BH. miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet. 2012 Jul 01; 21(13):2991-3000. PMID: 22498974; PMCID: PMC3373245.
      Citations: 97     Fields:    Translation:AnimalsCells
    90. 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; PMCID: PMC3356458.
      Citations: 5     Fields:    Translation:HumansCells
    91. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH, Cormier-Daire V. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10; 90(2):282-9. PMID: 22265014; PMCID: PMC3276659.
      Citations: 53     Fields:    Translation:HumansAnimals
    92. Hu C, Cela RG, Suzuki M, Lee B, Lipshutz GS. Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. Proc Natl Acad Sci U S A. 2011 Feb 01; 108(5):2082-7. PMID: 21245323; PMCID: PMC3033287.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    93. 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; PMCID: PMC2867349.
      Citations: 11     Fields:    Translation:Humans
    94. 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; PMCID: PMC2986596.
      Citations: 12     Fields:    Translation:HumansCells
    95. 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: 6     Fields:    Translation:Humans
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