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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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    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


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    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. 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 19. PMID: 28628032.
      View in: PubMed
    2. 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
    3. 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 Mar 06. PMID: 28263186.
      View in: PubMed
    4. 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
    5. 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 Mar; 3(2):a000984. PMID: 28299356.
      View in: PubMed
    6. 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 Feb 16. PMID: 28206698.
      View in: PubMed
    7. 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 Jan 23. PMID: 28115524.
      View in: PubMed
    8. 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. 2016 Dec 22. PMID: 28003643.
      View in: PubMed
    9. 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. 2016 Nov 26. PMID: 27888646.
      View in: PubMed
    10. 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.
    11. 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 [Available on 03/01/17].
    12. 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.
      View in: PubMed
    13. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G. 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
    14. 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
    15. 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. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 7; 96(5):841-9. PMID: 25957469.
      View in: PubMed
    16. 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 7; 96(5):816-25. PMID: 25865493; PMCID: PMC4570552.
    17. 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
    18. 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.
    19. 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 8; 26(3):390-401. PMID: 25203324; PMCID: PMC4159617.
    20. 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
    21. 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):1815-22. PMID: 24644033; PMCID: PMC4108531.
    22. 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 ?-ketoacid dehydrogenase kinase. J Biol Chem. 2014 Jul 25; 289(30):20583-93. PMID: 24895126; PMCID: PMC4110271.
    23. 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; PMCID: PMC4223446.
    24. Burrage LC, Jain M, Gandolfo L, Lee BH. 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.
    25. 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-? signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun; 20(6):670-5. PMID: 24793237; PMCID: PMC4048326.
    26. 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.
    27. 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.
    28. 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 1; 23(15):4035-42. PMID: 24634143; PMCID: PMC4082367.
    29. 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; PMCID: PMC4382922.
    30. 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; PMCID: PMC3904621.
    31. 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.
    32. 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
    33. 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
    34. 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; PMCID: PMC3895324.
    35. 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.
    36. 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.
    37. 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; PMCID: PMC3757305.
    38. 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
    39. Chen S, Lee BH, Bae Y. Notch signaling in skeletal stem cells. Calcif Tissue Int. 2014 Jan; 94(1):68-77. PMID: 23963632; PMCID: PMC3947214.
    40. 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-? in the pathogenesis of osteoarthritis. Ann Rheum Dis. 2014 Aug; 73(8):1575-84. PMID: 23928557; PMCID: PMC4418017.
    41. 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.
    42. 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 ?-ketoacid dehydrogenase kinase. Proc Natl Acad Sci U S A. 2013 Jun 11; 110(24):9728-33. PMID: 23716694; PMCID: PMC3683707.
    43. 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 6; 92(6):996-1000. PMID: 23731537; PMCID: PMC3675240.
    44. 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 9; 368(19):1809-16. PMID: 23656646; PMCID: PMC3709450.
    45. 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 2; 92(5):781-91. PMID: 23623387; PMCID: PMC3644641.
    46. 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-? in the bone microenvironment. Proc Natl Acad Sci U S A. 2013 Apr 30; 110(18):7336-41. PMID: 23589896; PMCID: PMC3645519.
    47. 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.
    48. 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.
    49. Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013 Mar 6; 5(175):175ra31. PMID: 23467562; PMCID: PMC4102924.
    50. Chen S, Tao J, Bae Y, Jiang MM, Bertin T, Chen Y, Yang T, Lee B. Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression of Sox9. J Bone Miner Res. 2013 Mar; 28(3):649-59. PMID: 22991339; PMCID: PMC3548081.
    51. Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9. PMID: 23443412; PMCID: PMC3709009.
    52. 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; PMCID: PMC3581587.
    53. 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.
    54. Suzuki M, Bertin TK, Rogers GL, Cela RG, Zolotukhin I, Palmer DJ, Ng P, Herzog RW, Lee B. Differential type I interferon-dependent transgene silencing of helper-dependent adenoviral vs. adeno-associated viral vectors in vivo. Mol Ther. 2013 Apr; 21(4):796-805. PMID: 23319058; PMCID: PMC3616533.
    55. 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; PMCID: PMC4017326.
    56. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. PMID: 22961727; PMCID: PMC3557606.
    57. 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 1; 22(5):1026-38. PMID: 23221805; PMCID: PMC3561915.
    58. Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102. PMID: 23033274.
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    59. Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC. 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; PMCID: PMC3483446.
    60. Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24. PMID: 22987818; PMCID: PMC4000731.
    61. 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; PMCID: PMC3472516.
    62. 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; PMCID: PMC3607481.
    63. 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.
    64. 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; PMCID: PMC3399940.
    65. Nagamani SC, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep; 107(1-2):10-4. PMID: 22841516; PMCID: PMC3444682.
    66. 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.
    67. 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; PMCID: PMC3428158.
    68. 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.
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    69. 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; 12:310. PMID: 22537320; PMCID: PMC3356229.
    70. Sule G, Suzuki M, Guse K, Cela R, Rodgers JR, Lee B. Cytokine-conditioned dendritic cells induce humoral tolerance to protein therapy in mice. Hum Gene Ther. 2012 Jul; 23(7):769-80. PMID: 22468961; PMCID: PMC3404424.
    71. 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 5; 125(22):2751-61. PMID: 22570371; PMCID: PMC3503489.
    72. 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 4; 90(5):836-46. PMID: 22541557; PMCID: PMC3376491.
    73. 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 1; 21(13):2991-3000. PMID: 22498974; PMCID: PMC3373245.
    74. 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.
    75. 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, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. 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.
    76. Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 May; 14(5):501-7. PMID: 22241104; PMCID: PMC3709024.
    77. Li F, Lu Y, Ding M, Napierala D, Abbassi S, Chen Y, Duan X, Wang S, Lee B, Zheng Q. Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer. J Bone Miner Res. 2011 Dec; 26(12):2899-910. PMID: 21887706; PMCID: PMC3222790.
    78. Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011 Dec; 26(12):2798-803. PMID: 21826736; PMCID: PMC3214246.
    79. 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 Dec; 17(12):1619-26. PMID: 22081021; PMCID: PMC3348956.
    80. 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; PMCID: PMC3655525.
    81. 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; PMCID: PMC3177951.
    82. Lee B, Davidson BL. Gene therapy grows into young adulthood: special review issue. Hum Mol Genet. 2011 Apr 15; 20(R1):R1. PMID: 21571785.
      View in: PubMed
    83. 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; PMCID: PMC3095500.
    84. 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 8; 88(4):402-21. PMID: 21473982; PMCID: PMC3071916.
    85. 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; PMCID: PMC3179293.
    86. 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.
      View in: PubMed
    87. 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; PMCID: PMC3073162.
    88. Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B. Interaction of TGF? and BMP signaling pathways during chondrogenesis. PLoS One. 2011; 6(1):e16421. PMID: 21297990; PMCID: PMC3030581.
    89. 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; PMCID: PMC3060324.
    90. 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 1; 108(5):2082-7. PMID: 21245323; PMCID: PMC3033287.
    91. 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; PMCID: PMC3024040.
    92. 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; PMCID: PMC3023202.
    93. 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; PMCID: PMC3126919.
    94. Marini JC, Didelija IC, Castillo L, Lee B. Plasma arginine and ornithine are the main citrulline precursors in mice infused with arginine-free diets. J Nutr. 2010 Aug; 140(8):1432-7. PMID: 20573946; PMCID: PMC2903302.
    95. 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; PMCID: PMC2898604.
    96. Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010; 5(5):e10560. PMID: 20485499; PMCID: PMC2868021.
    97. 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; PMCID: PMC2904050.
    98. 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 9; 86(4):551-9. PMID: 20362275; PMCID: PMC2850430.
    99. 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; PMCID: PMC2905228.
    100. 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; PMCID: PMC2865218.
    101. 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; PMCID: PMC2952341.
    102. 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.
    103. 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; PMCID: PMC2858794.
    104. 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.
      View in: PubMed
    105. 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; PMCID: PMC2829450.
    106. Mao J, Yang T, Gu Z, Heird WC, Finegold MJ, Lee B, Wakil SJ. aP2-Cre-mediated inactivation of acetyl-CoA carboxylase 1 causes growth retardation and reduced lipid accumulation in adipose tissues. Proc Natl Acad Sci U S A. 2009 Oct 13; 106(41):17576-81. PMID: 19805143; PMCID: PMC2762677.
    107. 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; PMCID: PMC2746757.
    108. Engin F, Lee B. NOTCHing the bone: insights into multi-functionality. Bone. 2010 Feb; 46(2):274-80. PMID: 19520195; PMCID: PMC2835535.
    109. 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; PMCID: PMC2683646.
    110. 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; PMCID: PMC2835205.
    111. 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.
    112. Engin F, Bertin T, Ma O, Jiang MM, Wang L, Sutton RE, Donehower LA, Lee B. Notch signaling contributes to the pathogenesis of human osteosarcomas. Hum Mol Genet. 2009 Apr 15; 18(8):1464-70. PMID: 19228774; PMCID: PMC2733809.
    113. 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.
      View in: PubMed
    114. 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; PMCID: PMC2671575.
    115. 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; PMCID: PMC2680128.
    116. 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; PMCID: PMC2677682.
    117. 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; PMCID: PMC2766563.
    118. 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; PMCID: PMC2675643.
    119. 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; PMCID: PMC2640937.
    120. 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; PMCID: PMC2515126.
    121. 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 1; 146A(9):1230-3. PMID: 18386804; PMCID: PMC2637032.
    122. 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; PMCID: PMC2710999.
    123. 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; PMCID: PMC2430595.
    124. 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; PMCID: PMC2671578.
    125. 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; PMCID: PMC2663417.
    126. 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 1; 143A(21):2576-80. PMID: 17394214.
      View in: PubMed
    127. 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.
      View in: PubMed
    128. 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.
      View in: PubMed
    129. 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.
      View in: PubMed
    130. 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.
      View in: PubMed
    131. 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.
      View in: PubMed
    132. 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.
      View in: PubMed
    133. 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.
      View in: PubMed
    134. 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.
      View in: PubMed
    135. 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.
      View in: PubMed
    136. 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; PMCID: PMC1748167.
    137. 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.
      View in: PubMed
    138. 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 1; 140(19):2121-30. PMID: 16838329.
      View in: PubMed
    139. 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.
      View in: PubMed
    140. 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.
      View in: PubMed
    141. 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.
      View in: PubMed
    142. 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; PMCID: PMC4052756.
    143. 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.
      View in: PubMed
    144. 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.
      View in: PubMed
    145. 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 1; 14(23):3723-40. PMID: 16254002.
      View in: PubMed
    146. 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.
      View in: PubMed
    147. 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.
      View in: PubMed
    148. 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.
      View in: PubMed
    149. 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.
      View in: PubMed
    150. 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.
      View in: PubMed
    151. 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.
      View in: PubMed
    152. 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.
      View in: PubMed
    153. 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.
      View in: PubMed
    154. 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.
      View in: PubMed
    155. 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.
      View in: PubMed
    156. 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; PMCID: PMC1224532.
    157. 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; PMCID: PMC1226190.
    158. 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; PMCID: PMC554836.
    159. 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.
      View in: PubMed
    160. 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.
      View in: PubMed
    161. 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 Oct; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S. PMID: 15465784.
      View in: PubMed
    162. 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.
      View in: PubMed
    163. 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.
      View in: PubMed
    164. 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.
      View in: PubMed
    165. 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.
      View in: PubMed
    166. 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 3; 327(2):153-60. PMID: 14980712.
      View in: PubMed
    167. 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.
      View in: PubMed
    168. 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 1; 162(5):833-42. PMID: 12952936; PMCID: PMC2172833.
    169. 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.
      View in: PubMed
    170. 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.
      View in: PubMed
    171. 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.
      View in: PubMed
    172. 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.
      View in: PubMed
    173. 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.
      View in: PubMed
    174. 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.
      View in: PubMed
    175. 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.
      View in: PubMed
    176. 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.
      View in: PubMed
    177. 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; PMCID: PMC150942.
    178. 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.
      View in: PubMed
    179. 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.
      View in: PubMed
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