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BRENDAN HL LEE

TitleChair
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressOne Baylor Plaza, ABBR R814
Houston TX 77030
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


    Collapse Research 
    Collapse research activities and funding
    T32GM007526     (LEE, BRENDAN)Sep 30, 1978 - Jun 30, 2023
    NIH/NIGMS
    Medical Genetics Research Fellowship Program
    Role: Principal Investigator

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

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

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

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

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

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

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

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

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

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

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

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

    R01DK092921     (LEE, BRENDAN)Jul 1, 2011 - May 31, 2016
    NIH/NIDDK
    Phenylbutyrate therapy for maple syrup urine disease
    Role: Principal Investigator

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

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

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

    U54AR068069     (LEE, BRENDAN)Aug 6, 2014 - Jul 31, 2019
    NIH/NIAMS
    Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network
    Role: Principal Investigator

    R01DK102641     (LEE, BRENDAN)Sep 1, 2014 - Aug 31, 2019
    NIH/NIDDK
    Argininosuccinate lyase is an essential regulator of systemic nitric oxide produc
    Role: Principal Investigator

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

    R13AR074876     (LEE, BRENDAN)Sep 1, 2018 - Aug 31, 2019
    NIH/NIAMS
    Mechanistic and Therapeutic Advances in Rare Skeletal Disease
    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.
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    1. 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 Apr; 47(5):1223-1229. PMID: 30888847.
      View in: PubMed
    2. Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 Jan 23. PMID: 30670878.
      View in: PubMed
    3. 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 Jan 03; 104(1):164-178. PMID: 30580808.
      View in: PubMed
    4. 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 Mar; 179(3):475-479. PMID: 30569621.
      View in: PubMed
    5. 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 Feb; 30(2):225-235. PMID: 30070147.
      View in: PubMed
    6. 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.
      View in: PubMed
    7. 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 Nov; 176(11):2419-2424. PMID: 30246918.
      View in: PubMed
    8. 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 Aug 02; 103(2):276-287. PMID: 30075114.
      View in: PubMed
    9. 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, Dhar SU. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Aug; 4(4):e248. PMID: 30046660.
      View in: PubMed
    10. 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 Jul 05; 103(1):154-162. PMID: 29961569.
      View in: PubMed
    11. 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.
      View in: PubMed
    12. Grol MW, Lee BH. Gene therapy for repair and regeneration of bone and cartilage. Curr Opin Pharmacol. 2018 06; 40:59-66. PMID: 29621661.
      View in: PubMed
    13. 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.
      View in: PubMed
    14. 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 Dec 07; 7(1):17175. PMID: 29215029.
      View in: PubMed
    15. 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.
      View in: PubMed
    16. 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.
      View in: PubMed
    17. 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.
      View in: PubMed
    18. 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.
      View in: PubMed
    19. 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.
      View in: PubMed
    20. 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.
      View in: PubMed
    21. 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.
      View in: PubMed
    22. 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.
      View in: PubMed
    23. 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.
      View in: PubMed
    24. 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.
      View in: PubMed
    25. 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.
      View in: PubMed
    26. 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.
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    27. 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.
      View in: PubMed
    28. 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.
      View in: PubMed
    29. 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.
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    30. 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.
      View in: PubMed
    31. 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.
      View in: PubMed
    32. 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, 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.
      View in: PubMed
    33. 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.
      View in: PubMed
    34. 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.
      View in: PubMed
    35. 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.
      View in: PubMed
    36. 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.
      View in: PubMed
    37. 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.
      View in: PubMed
    38. 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.
      View in: PubMed
    39. 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.
      View in: PubMed
    40. 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.
      View in: PubMed
    41. 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.
      View in: PubMed
    42. 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.
      View in: PubMed
    43. 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.
      View in: PubMed
    44. 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.
      View in: PubMed
    45. 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.
      View in: PubMed
    46. Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May; 112(1):17-24. PMID: 24630270.
      View in: PubMed
    47. 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.
      View in: PubMed
    48. 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.
      View in: PubMed
    49. 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.
      View in: PubMed
    50. 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.
      View in: PubMed
    51. 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.
      View in: PubMed
    52. 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.
      View in: PubMed
    53. 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.
      View in: PubMed
    54. 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.
      View in: PubMed
    55. 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.
      View in: PubMed
    56. Chen S, Lee BH, Bae Y. Notch signaling in skeletal stem cells. Calcif Tissue Int. 2014 Jan; 94(1):68-77. PMID: 23963632.
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    131. 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.
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    132. 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.
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    133. 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.
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    134. 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.
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    135. 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.
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    136. 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.
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    137. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15; 112(4):1042-7. PMID: 18487507.
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    138. Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 01; 146A(9):1230-3. PMID: 18386804.
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    139. Napierala D, Sam K, Morello R, Zheng Q, Munivez E, Shivdasani RA, Lee B. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet. 2008 Jul 15; 17(14):2244-54. PMID: 18424451.
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    140. Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May; 94(1):105-11. PMID: 18289904.
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    141. 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.
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    142. 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.
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    143. 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.
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    144. 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.
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    145. 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.
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    146. 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.
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    147. 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.
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    148. Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7. PMID: 17332192.
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    149. Cerullo V, Seiler MP, Mane V, Brunetti-Pierri N, Clarke C, Bertin TK, Rodgers JR, Lee B. Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther. 2007 Feb; 15(2):378-85. PMID: 17235317.
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    150. 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.
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    151. 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.
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    152. 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.
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    153. 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.
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    154. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20; 127(2):291-304. PMID: 17055431.
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    155. Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 2006 Oct 01; 140(19):2121-30. PMID: 16838329.
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    156. 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.
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    157. Marini JC, Lee B, Garlick PJ. Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice. J Nutr. 2006 Jul; 136(7):1834-8. PMID: 16772445.
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    158. 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.
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    159. 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.
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    160. 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.
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    161. 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.
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    162. 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.
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    163. 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.
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    164. 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.
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    165. 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.
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    166. 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.
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    167. Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin. 2005 Oct; 21(4 Suppl):S19-25. PMID: 16227112.
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    168. Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol. 2005 Dec; 24(8):530-8. PMID: 16176871.
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    169. 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.
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    170. 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.
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    171. 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.
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    172. 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.
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    173. 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.
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    174. 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.
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    175. 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.
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    176. Mian A, Guenther M, Finegold M, Ng P, Rodgers J, Lee B. Toxicity and adaptive immune response to intracellular transgenes delivered by helper-dependent vs. first generation adenoviral vectors. Mol Genet Metab. 2005 Mar; 84(3):278-88. PMID: 15694178.
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    177. 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.
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    178. 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.
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    179. Mian A, McCormack WM, Mane V, Kleppe S, Ng P, Finegold M, O'Brien WE, Rodgers JR, Beaudet AL, Lee B. Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther. 2004 Sep; 10(3):492-9. PMID: 15336649.
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    180. 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.
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    181. 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.
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    182. Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr; 81 Suppl 1:S79-85. PMID: 15050979.
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    183. 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.
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    184. 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.
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    185. Zheng Q, Zhou G, Morello R, Chen Y, Garcia-Rojas X, Lee B. Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo. J Cell Biol. 2003 Sep 01; 162(5):833-42. PMID: 12952936.
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    186. 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.
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    187. Toietta G, Koehler DR, Finegold MJ, Lee B, Hu J, Beaudet AL. Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter. Mol Ther. 2003 May; 7(5 Pt 1):649-58. PMID: 12718908.
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    188. 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.
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    189. 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.
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    190. 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.
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    191. Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet. 2002 Aug 15; 111(3):238-42. PMID: 12210319.
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    192. 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.
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    193. 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.
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    194. 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.
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    195. 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.
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    196. 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.
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