| Year |
Citation |
Score |
| 2021 |
Couasnay G, Madel MB, Lim J, Lee B, Elefteriou F. Sites of Cre-recombinase activity in mouse lines targeting skeletal cells. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 34278610 DOI: 10.1002/jbmr.4415 |
0.549 |
|
| 2020 |
Rauch D, Robinson ME, Seiltgens C, Sutton VR, Lee B, Glorieux F, Rauch F. Assessment of Longitudinal Bone Growth in Osteogenesis Imperfecta Using Metacarpophalangeal Pattern Profiles. Bone. 115547. PMID 32730936 DOI: 10.1016/J.Bone.2020.115547 |
0.304 |
|
| 2020 |
Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, ... ... Lee B, et al. A Global Slc7a7 Knockout Mouse Model Demonstrates Characteristic Phenotypes of Human Lysinuric Protein Intolerance. Human Molecular Genetics. PMID 32504080 DOI: 10.1093/Hmg/Ddaa107 |
0.343 |
|
| 2020 |
Samsa WE, Mamidi MK, Bashur LA, Elliott R, Miron A, Chen Y, Lee B, Greenfield EM, Chan R, Danielpour D, Zhou G. The crucial p53-dependent oncogenic role of JAB1 in osteosarcoma in vivo. Oncogene. PMID 32390003 DOI: 10.1038/S41388-020-1320-6 |
0.325 |
|
| 2020 |
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, ... ... Lee B, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021 |
0.301 |
|
| 2019 |
Ortinau LC, Wang H, Lei K, Deveza L, Jeong Y, Hara Y, Grafe I, Rosenfeld SB, Lee D, Lee B, Scadden DT, Park D. Identification of Functionally Distinct Mx1+αSMA+ Periosteal Skeletal Stem Cells. Cell Stem Cell. 25: 784-796.e5. PMID 31809737 DOI: 10.1016/J.Stem.2019.11.003 |
0.327 |
|
| 2019 |
Cho KY, Kelley BP, Monier D, Lee B, Szabo-Rogers H, Napierala D. Trps1 Regulates Development of Craniofacial Skeleton and Is Required for the Initiation of Palatal Shelves Fusion. Frontiers in Physiology. 10: 513. PMID 31130868 DOI: 10.3389/Fphys.2019.00513 |
0.405 |
|
| 2019 |
Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, ... Lee B, et al. Mobility in osteogenesis imperfecta: a multicenter North American study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30918359 DOI: 10.1038/S41436-019-0491-4 |
0.308 |
|
| 2019 |
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, ... ... Lee B, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics. PMID 30773277 DOI: 10.1016/J.Ajhg.2019.01.007 |
0.373 |
|
| 2018 |
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. European Journal of Medical Genetics. PMID 30593885 DOI: 10.1016/J.Ejmg.2018.12.011 |
0.305 |
|
| 2018 |
Nicol L, Morar P, Wang Y, Henriksen K, Sun S, Karsdal M, Smith R, Nagamani SCS, Shapiro J, Lee B, Orwoll E. Alterations in non-type I collagen biomarkers in osteogenesis imperfecta. Bone. PMID 30290234 DOI: 10.1016/J.Bone.2018.09.024 |
0.303 |
|
| 2018 |
Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM. Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. American Journal of Medical Genetics. Part A. PMID 30289614 DOI: 10.1002/Ajmg.A.40383 |
0.372 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, ... ... Lee B, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006 |
0.362 |
|
| 2018 |
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, ... ... Lee B, et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. American Journal of Human Genetics. PMID 29805043 DOI: 10.1016/J.Ajhg.2018.04.010 |
0.318 |
|
| 2018 |
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, ... ... Lee B, et al. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29469822 DOI: 10.1038/Gim.2017.249 |
0.342 |
|
| 2017 |
Zheng H, Bae Y, Kasimir-Bauer S, Tang R, Chen J, Ren G, Yuan M, Esposito M, Li W, Wei Y, Shen M, Zhang L, Tupitsyn N, Pantel K, King C, ... ... Lee B, et al. Therapeutic Antibody Targeting Tumor- and Osteoblastic Niche-Derived Jagged1 Sensitizes Bone Metastasis to Chemotherapy. Cancer Cell. 32: 731-747.e6. PMID 29232552 DOI: 10.1016/J.Ccell.2017.11.002 |
0.305 |
|
| 2017 |
Nicol L, Wang Y, Smith R, Sloan J, Nagamani SCS, Shapiro J, Lee B, Orwoll E. Serum sclerostin levels in adults with osteogenesis imperfecta: comparison with normal individuals and response to teriparatide therapy. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 29044725 DOI: 10.1002/Jbmr.3312 |
0.321 |
|
| 2017 |
Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. American Journal of Medical Genetics. Part A. PMID 28815944 DOI: 10.1002/Ajmg.A.38383 |
0.306 |
|
| 2017 |
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga K, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, ... ... Lee B, et al. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Plos Genetics. 13: e1006905. PMID 28742085 DOI: 10.1371/Journal.Pgen.1006905 |
0.351 |
|
| 2017 |
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, ... ... Lee B, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation. PMID 28649782 DOI: 10.1002/Humu.23282 |
0.345 |
|
| 2017 |
Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SC, Wang LL. Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome. Human Molecular Genetics. PMID 28486640 DOI: 10.1093/Hmg/Ddx178 |
0.33 |
|
| 2017 |
Li J, Lu D, Liu H, Williams BO, Overbeek PA, Lee B, Zheng L, Yang T. Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling. Human Molecular Genetics. PMID 28486600 DOI: 10.1093/Hmg/Ddx183 |
0.378 |
|
| 2017 |
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, ... ... Lee BH, et al. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. The Journal of Clinical Investigation. PMID 28263186 DOI: 10.1172/Jci90193 |
0.312 |
|
| 2017 |
Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. PMID 28232077 DOI: 10.1016/J.Bone.2017.02.004 |
0.389 |
|
| 2017 |
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. The Journal of Biological Chemistry. PMID 28115524 DOI: 10.1074/Jbc.M116.762245 |
0.65 |
|
| 2016 |
Marom R, Lee YC, Grafe I, Lee B. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 27813341 DOI: 10.1002/Ajmg.C.31532 |
0.364 |
|
| 2016 |
Bi X, Grafe I, Ding H, Flores R, Munivez E, Jiang MM, Dawson B, Lee B, Ambrose CG. Correlations between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 27649409 DOI: 10.1002/Jbmr.2997 |
0.31 |
|
| 2016 |
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukulta SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, ... Lee B, et al. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics. PMID 27378692 DOI: 10.1093/Hmg/Ddw186 |
0.388 |
|
| 2015 |
Grafe I, Alexander S, Yang T, Lietman C, Homan EP, Munivez E, Chen Y, Jiang MM, Bertin T, Dawson B, Asuncion F, Ke HZ, Ominsky MS, Lee B. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 26716893 DOI: 10.1002/Jbmr.2776 |
0.361 |
|
| 2015 |
Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Molecular Genetics and Metabolism Reports. 4: 89-91. PMID 26366375 DOI: 10.1016/J.Ymgmr.2015.08.003 |
0.325 |
|
| 2015 |
Chen S, Grover M, Sibai T, Black J, Rianon N, Rajagopal A, Munivez E, Bertin T, Dawson B, Chen Y, Jiang MM, Lee B, Yang T, Bae Y. Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton. Molecular Genetics and Metabolism. 115: 53-60. PMID 25779879 DOI: 10.1016/J.Ymgme.2015.02.006 |
0.368 |
|
| 2015 |
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, et al. FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. 167: 831-6. PMID 25736269 DOI: 10.1002/Ajmg.A.36960 |
0.358 |
|
| 2015 |
Wang H, Yu C, Gao X, Welte T, Muscarella AM, Tian L, Zhao H, Zhao Z, Du S, Tao J, Lee B, Westbrook TF, Wong ST, Jin X, Rosen JM, et al. The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells. Cancer Cell. 27: 193-210. PMID 25600338 DOI: 10.1016/J.Ccell.2014.11.017 |
0.306 |
|
| 2015 |
Lu L, Harutyunyan K, Jin W, Wu J, Yang T, Chen Y, Joeng KS, Bae Y, Tao J, Dawson BC, Jiang MM, Lee B, Wang LL. RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 30: 1077-89. PMID 25556649 DOI: 10.1002/Jbmr.2436 |
0.412 |
|
| 2015 |
Lietman CD, Marom R, Munivez E, Bertin TK, Jiang MM, Chen Y, Dawson B, Weis MA, Eyre D, Lee B. A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 30: 489-98. PMID 25251575 DOI: 10.1002/Jbmr.2363 |
0.409 |
|
| 2015 |
Suzuki M, Martinez M, Tarantal A, Lee B. 105. A Single Administration of Low Dosage (5 x1010 vp/kg) hFX/HDAd Complex Achieves Saturated hFVIII Levels in the Blood of Mice Molecular Therapy. 23: S44. DOI: 10.1016/S1525-0016(16)33710-8 |
0.314 |
|
| 2014 |
Kuzynski M, Goss M, Bottini M, Yadav MC, Mobley C, Winters T, Poliard A, Kellermann O, Lee B, Millan JL, Napierala D. Dual role of the Trps1 transcription factor in dentin mineralization. The Journal of Biological Chemistry. 289: 27481-93. PMID 25128529 DOI: 10.1074/Jbc.M114.550129 |
0.398 |
|
| 2014 |
Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, ... ... Lee B, et al. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nature Medicine. 20: 670-5. PMID 24793237 DOI: 10.1038/Nm.3544 |
0.31 |
|
| 2014 |
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. Human Molecular Genetics. 23: 4822-31. PMID 24777781 DOI: 10.1093/Hmg/Ddu197 |
0.411 |
|
| 2014 |
Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 29: 1815-22. PMID 24644033 DOI: 10.1002/Jbmr.2220 |
0.408 |
|
| 2014 |
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, ... ... Lee BH, et al. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. Plos Genetics. 10: e1004121. PMID 24465224 DOI: 10.1371/Journal.Pgen.1004121 |
0.676 |
|
| 2014 |
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-α in the pathogenesis of osteoarthritis. Annals of the Rheumatic Diseases. 73: 1575-84. PMID 23928557 DOI: 10.1136/Annrheumdis-2013-203561 |
0.302 |
|
| 2013 |
Sreeramkumar V, Leiva M, Stadtmann A, Pitaval C, Ortega-RodrÃguez I, Wild MK, Lee B, Zarbock A, Hidalgo A. Coordinated and unique functions of the E-selectin ligand ESL-1 during inflammatory and hematopoietic recruitment in mice. Blood. 122: 3993-4001. PMID 24106206 DOI: 10.1182/Blood-2013-07-514497 |
0.305 |
|
| 2013 |
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, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020 |
0.3 |
|
| 2013 |
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-β in the bone microenvironment. Proceedings of the National Academy of Sciences of the United States of America. 110: 7336-41. PMID 23589896 DOI: 10.1073/Pnas.1219748110 |
0.31 |
|
| 2013 |
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. Science Translational Medicine. 5: 175ra31. PMID 23467562 DOI: 10.1126/Scitranslmed.3004986 |
0.318 |
|
| 2013 |
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. 8: e57460. PMID 23451234 DOI: 10.1371/Journal.Pone.0057460 |
0.338 |
|
| 2013 |
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, et al. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human Molecular Genetics. 22: 1026-38. PMID 23221805 DOI: 10.1093/Hmg/Dds507 |
0.4 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Human Mutation. 34: 97-102. PMID 23033274 DOI: 10.1002/Humu.22222 |
0.334 |
|
| 2013 |
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. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 649-59. PMID 22991339 DOI: 10.1002/Jbmr.1770 |
0.369 |
|
| 2013 |
Laine C, Joeng KS, Campeau P, Kiviranta R, Tarkkonen K, Grover M, Lu J, Pekkinen M, Wessman M, Heino T, Nieminen-Pihala V, Laine T, Kroger H, Cole W, Lehesjoki A, ... ... Lee B, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass Bone Abstracts. DOI: 10.1530/Boneabs.2.Lb2 |
0.337 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Erratum to Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis [Human Mutation, 34, 1 (97-102)] DOI 10.1002/humu.22222] Human Mutation. 34. DOI: 10.1002/Humu.22290 |
0.335 |
|
| 2012 |
Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype American Journal of Medical Genetics Part A. 158: 2917-2924. PMID 22987818 DOI: 10.1002/Ajmg.A.35608 |
0.35 |
|
| 2012 |
Wat MJ, Beck TF, Hernández-GarcÃa 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, et al. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Human Molecular Genetics. 21: 4115-25. PMID 22723016 DOI: 10.1093/Hmg/Dds241 |
0.363 |
|
| 2012 |
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. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 1735-45. PMID 22508542 DOI: 10.1002/Jbmr.1636 |
0.4 |
|
| 2012 |
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, ... ... Lee B, et al. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation. 33: 165-79. PMID 21948486 DOI: 10.1002/Humu.21614 |
0.306 |
|
| 2011 |
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. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 26: 2899-910. PMID 21887706 DOI: 10.1002/Jbmr.504 |
0.345 |
|
| 2011 |
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, ... ... Lee B, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI Journal of Bone and Mineral Research. 26: 2798-2803. PMID 21826736 DOI: 10.1002/Jbmr.487 |
0.703 |
|
| 2011 |
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. Human Gene Therapy. 22: 1071-82. PMID 21561248 DOI: 10.1089/Hum.2011.002 |
0.304 |
|
| 2011 |
Tao J, Erez A, Lee B. One NOTCH Further: Jagged 1 in Bone Metastasis. Cancer Cell. 19: 159-161. PMID 21316596 DOI: 10.1016/J.Ccr.2011.01.043 |
0.31 |
|
| 2011 |
Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B. Interaction of TGFβ and BMP signaling pathways during chondrogenesis. Plos One. 6: e16421. PMID 21297990 DOI: 10.1371/Journal.Pone.0016421 |
0.319 |
|
| 2011 |
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, et al. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics : Ejhg. 19: 400-8. PMID 21248748 DOI: 10.1038/Ejhg.2010.211 |
0.31 |
|
| 2011 |
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 Proceedings of the National Academy of Sciences of the United States of America. 108: 2082-2087. PMID 21245323 DOI: 10.1073/Pnas.1015571108 |
0.32 |
|
| 2011 |
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, ... ... Lee B, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 26: 666-72. PMID 20839288 DOI: 10.1002/Jbmr.250 |
0.42 |
|
| 2011 |
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. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 25: 2175-83. PMID 20499347 DOI: 10.1002/Jbmr.115 |
0.393 |
|
| 2011 |
Hermanns P, Lee B. Cartilage-hair hypoplasia (CHH) Atlas of Genetics and Cytogenetics in Oncology and Haematology. DOI: 10.4267/2042/38617 |
0.325 |
|
| 2010 |
Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annual Review of Genomics and Human Genetics. 11: 189-217. PMID 20690819 DOI: 10.1146/Annurev-Genom-082908-150158 |
0.371 |
|
| 2010 |
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, ... ... Lee B, et al. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. The Journal of Clinical Investigation. 120: 2474-85. PMID 20530870 DOI: 10.1172/Jci42150 |
0.709 |
|
| 2010 |
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. 5: e10560. PMID 20485499 DOI: 10.1371/Journal.Pone.0010560 |
0.666 |
|
| 2010 |
Tao J, Chen S, Lee B. Alteration of Notch signaling in skeletal development and disease. Annals of the New York Academy of Sciences. 1192: 257-68. PMID 20392245 DOI: 10.1111/J.1749-6632.2009.05307.X |
0.312 |
|
| 2010 |
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, ... ... Lee B, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics. 86: 551-9. PMID 20362275 DOI: 10.1016/J.Ajhg.2010.02.022 |
0.393 |
|
| 2010 |
Engin F, Lee B. NOTCHing the bone: insights into multi-functionality. Bone. 46: 274-80. PMID 19520195 DOI: 10.1016/J.Bone.2009.05.027 |
0.731 |
|
| 2009 |
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. Proceedings of the National Academy of Sciences of the United States of America. 106: 17576-81. PMID 19805143 DOI: 10.1073/Pnas.0909055106 |
0.338 |
|
| 2009 |
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. Molecular Therapy : the Journal of the American Society of Gene Therapy. 17: 1155-63. PMID 19367256 DOI: 10.1038/Mt.2009.65 |
0.308 |
|
| 2009 |
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. European Journal of Human Genetics : Ejhg. 17: 1141-7. PMID 19277063 DOI: 10.1038/Ejhg.2009.27 |
0.329 |
|
| 2009 |
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. Human Molecular Genetics. 18: 1464-70. PMID 19228774 DOI: 10.1093/Hmg/Ddp057 |
0.734 |
|
| 2009 |
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. Molecular Genetics and Metabolism. 96: 97-105. PMID 19138872 DOI: 10.1016/J.Ymgme.2008.11.167 |
0.326 |
|
| 2009 |
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 Journal of Bone and Mineral Research. 24: 1022-1032. PMID 19113928 DOI: 10.1359/Jbmr.081249 |
0.38 |
|
| 2009 |
Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P. CRTAP deficiency leads to high bone matrix mineralization in children (Osteogenesis imperfecta type VII) and mice Bone. 44. DOI: 10.1016/J.Bone.2009.03.133 |
0.634 |
|
| 2008 |
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, ... ... Lee B, et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Human Mutation. 29: 1435-42. PMID 18566967 DOI: 10.1002/Humu.20799 |
0.698 |
|
| 2008 |
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. 112: 1042-1047. PMID 18487507 DOI: 10.1182/Blood-2008-01-135970 |
0.303 |
|
| 2008 |
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. Journal of Cellular Physiology. 217: 127-37. PMID 18446812 DOI: 10.1002/Jcp.21483 |
0.679 |
|
| 2008 |
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. Human Molecular Genetics. 17: 2244-54. PMID 18424451 DOI: 10.1093/Hmg/Ddn125 |
0.709 |
|
| 2008 |
Brunetti-Pierri N, Esposito V, Brasi DD, Mattiacci DM, Krakow D, Lee B, Salerno M. Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations American Journal of Medical Genetics Part A. 146: 1230-1233. PMID 18386804 DOI: 10.1002/Ajmg.A.32303 |
0.323 |
|
| 2008 |
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. Nature Medicine. 14: 299-305. PMID 18297084 DOI: 10.1038/Nm1712 |
0.748 |
|
| 2008 |
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. Molecular Genetics and Metabolism. 94: 105-11. PMID 18289904 DOI: 10.1016/J.Ymgme.2007.12.004 |
0.312 |
|
| 2008 |
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, et al. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. American Journal of Medical Genetics. Part A. 146: 453-8. PMID 18203189 DOI: 10.1002/Ajmg.A.31750 |
0.354 |
|
| 2008 |
Dreyer SD, Zhou G, Lee B. The long and the short of it: developmental genetics of the skeletal dysplasias Clinical Genetics. 54: 464-473. PMID 9894792 DOI: 10.1111/J.1399-0004.1998.Tb03766.X |
0.336 |
|
| 2008 |
Lennington J, Morello R, Jiang M, Baldridge D, Bertin T, Lee B. 141: Prolyl-3 Hydroxylase Expression in the Mouse Kidney and Developing Embryo American Journal of Kidney Diseases. 51. DOI: 10.1053/J.Ajkd.2008.02.149 |
0.646 |
|
| 2007 |
Marini JC, Erez A, Castillo L, Lee B. Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes. American Journal of Physiology. Endocrinology and Metabolism. 293: E1764-71. PMID 17925451 DOI: 10.1152/Ajpendo.00525.2007 |
0.309 |
|
| 2007 |
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. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 2080-7. PMID 17848960 DOI: 10.1038/Sj.Mt.6300308 |
0.301 |
|
| 2007 |
Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. American Journal of Human Genetics. 80: 825-45. PMID 17436238 DOI: 10.1086/513442 |
0.314 |
|
| 2007 |
Holder AM, Graham BH, Lee B, Scott DA. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. American Journal of Medical Genetics. Part A. 143: 2576-80. PMID 17394214 DOI: 10.1002/Ajmg.A.31688 |
0.325 |
|
| 2006 |
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, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. The New England Journal of Medicine. 355: 2757-64. PMID 17192541 DOI: 10.1056/Nejmoa063804 |
0.704 |
|
| 2006 |
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proceedings of the National Academy of Sciences of the United States of America. 103: 19004-9. PMID 17142326 DOI: 10.1073/Pnas.0605170103 |
0.742 |
|
| 2006 |
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, ... ... Lee B, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 127: 291-304. PMID 17055431 DOI: 10.1016/J.Cell.2006.08.039 |
0.703 |
|
| 2006 |
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage-hair hypoplasia† American Journal of Medical Genetics Part A. 140: 2121-2130. PMID 16838329 DOI: 10.1002/Ajmg.A.31331 |
0.337 |
|
| 2006 |
McCormack WM, Seiler MP, Bertin TK, Ubhayakar K, Palmer DJ, Ng P, Nichols TC, Lee B. Helper-dependent adenoviral gene therapy mediates long-term correction of the clotting defect in the canine hemophilia A model. Journal of Thrombosis and Haemostasis : Jth. 4: 1218-25. PMID 16706963 DOI: 10.1111/J.1538-7836.2006.01901.X |
0.304 |
|
| 2006 |
Morello R, Bertin T, Hicks J, Castagnola P, Glorieux FH, Bachinger H, Byers PH, Eyre DR, Boyce BF, Lee B. Prolyl 3_hydroxylation and recessive osteogenesis imperfecta Matrix Biology. 25. DOI: 10.1016/J.Matbio.2006.08.176 |
0.666 |
|
| 2006 |
Barnes A, Chang W, Morello R, Cabral W, Weis M, Eyre D, Leikin S, Mulvihill J, Lee B, Marini J. Recessive lethal form of OI caused by null mutations in CRTAP Matrix Biology. 25. DOI: 10.1016/J.Matbio.2006.08.170 |
0.66 |
|
| 2005 |
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. Human Molecular Genetics. 14: 3723-40. PMID 16254002 DOI: 10.1093/Hmg/Ddi403 |
0.346 |
|
| 2005 |
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 Biology : Journal of the International Society For Matrix Biology. 24: 530-8. PMID 16176871 DOI: 10.1016/J.Matbio.2005.08.002 |
0.367 |
|
| 2005 |
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. Molecular Genetics and Metabolism. 86: 257-68. PMID 16140555 DOI: 10.1016/J.Ymgme.2005.07.012 |
0.4 |
|
| 2005 |
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. American Journal of Human Genetics. 77: 305-12. PMID 15952089 DOI: 10.1086/432261 |
0.418 |
|
| 2005 |
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. American Journal of Human Genetics. 77: 161-8. PMID 15924278 DOI: 10.1086/431654 |
0.355 |
|
| 2005 |
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. Molecular Genetics and Metabolism. 84: 278-88. PMID 15694178 DOI: 10.1016/J.Ymgme.2004.11.005 |
0.31 |
|
| 2005 |
Brunetti-Pierri N, Clarke C, Mane V, Palmer D, Ng P, O'Brien W, Lee B. 903. Ornithine Transacarbamylase Deficiency Correction with Low Dose of Helper-Dependent Adenoviral Vector Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.446 |
0.303 |
|
| 2005 |
Cerullo V, McCormack M, Garcia R, Clarke C, Pipe SW, Lee B. 598. In-Vivo Test of Coagulation Factor VIII with Improved Properties for Hemophilia A Gene Therapy by Helper-Dependent Adenoviral Vectors Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.138 |
0.35 |
|
| 2005 |
Mane VP, Clarke C, Medina-Kauwe L, Finegold M, Lee B. 149. Transient Kupffer Cell Saturation, Via Adenovirus or Adenoviral Protein, Enhances Expression of Reporter Virus Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.06.153 |
0.301 |
|
| 2004 |
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. The Journal of Nutrition. 134: 2775S-2782S; discuss. PMID 15465784 DOI: 10.1093/Jn/134.10.2775S |
0.316 |
|
| 2004 |
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. Molecular Therapy : the Journal of the American Society of Gene Therapy. 10: 492-9. PMID 15336649 DOI: 10.1016/J.Ymthe.2004.05.036 |
0.355 |
|
| 2004 |
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 Expression Patterns : Gep. 4: 397-405. PMID 15183306 DOI: 10.1016/J.Modgep.2004.01.006 |
0.665 |
|
| 2003 |
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. The Journal of Cell Biology. 162: 833-42. PMID 12952936 DOI: 10.1083/Jcb.200211089 |
0.686 |
|
| 2003 |
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). Human Genetics. 113: 447-51. PMID 12938037 DOI: 10.1007/S00439-003-0981-X |
0.351 |
|
| 2003 |
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. Molecular Therapy : the Journal of the American Society of Gene Therapy. 7: 649-58. PMID 12718908 DOI: 10.1016/S1525-0016(03)00059-5 |
0.326 |
|
| 2003 |
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. Pediatric Pathology & Molecular Medicine. 22: 23-35. PMID 12687887 DOI: 10.1080/Pdp.22.1.23.35 |
0.34 |
|
| 2003 |
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. American Journal of Medical Genetics. Part A. 118: 223-8. PMID 12673651 DOI: 10.1002/Ajmg.A.10026 |
0.301 |
|
| 2002 |
Mian A, Lee B. Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism Trends in Molecular Medicine. 8: 583-589. PMID 12470992 DOI: 10.1016/S1471-4914(02)02437-1 |
0.307 |
|
| 2002 |
Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. American Journal of Medical Genetics. 111: 238-42. PMID 12210319 DOI: 10.1002/Ajmg.10633 |
0.366 |
|
| 2002 |
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. The Journal of Biological Chemistry. 277: 31154-62. PMID 12039968 DOI: 10.1074/Jbc.M204806200 |
0.667 |
|
| 2002 |
Morello R, Lee B. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. Pediatric Research. 51: 551-8. PMID 11978876 DOI: 10.1203/00006450-200205000-00002 |
0.681 |
|
| 2002 |
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. The Journal of Clinical Investigation. 109: 1065-72. PMID 11956244 DOI: 10.1172/Jci13954 |
0.691 |
|
| 2001 |
Hermanns P, Lee B. Transcriptional dysregulation in skeletal malformation syndromes. American Journal of Medical Genetics. 106: 258-271. PMID 11891677 DOI: 10.1002/Ajmg.10231 |
0.367 |
|
| 2001 |
Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. American Journal of Medical Genetics. 104: 1-6. PMID 11746020 DOI: 10.1002/Ajmg.10024 |
0.317 |
|
| 2001 |
Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome Nature Genetics. 27: 205-208. PMID 11175791 DOI: 10.1038/84853 |
0.659 |
|
| 2000 |
Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B. LMX1B transactivation and expression in nail-patella syndrome Human Molecular Genetics. 9: 1067-1074. PMID 10767331 DOI: 10.1093/Hmg/9.7.1067 |
0.686 |
|
| 1999 |
Dreyer SD, Zheng Q, Zabel B, Winterpacht A, Lee B. Isolation, characterization, and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain. Genomics. 62: 119-122. PMID 10585779 DOI: 10.1006/Geno.1999.5981 |
0.323 |
|
| 1999 |
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Human Molecular Genetics. 8: 2311-6. PMID 10545612 DOI: 10.1093/Hmg/8.12.2311 |
0.534 |
|
| 1998 |
McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. Mutation analysis of LMX1B gene in nail-patella syndrome patients. American Journal of Human Genetics. 63: 1651-8. PMID 9837817 DOI: 10.1086/302165 |
0.319 |
|
| 1998 |
Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome Nature Genetics. 19: 51-55. PMID 9590288 DOI: 10.1038/Ng0598-51 |
0.36 |
|
| 1998 |
Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome Nature Genetics. 19: 47-50. PMID 9590287 DOI: 10.1038/Ng0598-47 |
0.365 |
|
| 1998 |
Dreyer SD, Zhou L, Machado MA, Horton WA, Zabel B, Winterpacht A, Lee B. Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 458-62. PMID 9585434 DOI: 10.1007/S003359900796 |
0.368 |
|
| 1998 |
Dreyer S, Chen H, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Oberg KC, Johnson RL, Lee B. Mutation in lmx1b Causes Skeletal and Renal Dysplasia in Mice and Nail Patella Syndrome in Humans • 710 Pediatric Research. 43: 123-123. DOI: 10.1203/00006450-199804001-00731 |
0.338 |
|
| 1997 |
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nature Genetics. 16: 307-10. PMID 9207800 DOI: 10.1038/Ng0797-307 |
0.727 |
|
| 1995 |
Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR. Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. Genomics. 30: 329-36. PMID 8586434 DOI: 10.1006/Geno.1995.9870 |
0.301 |
|
| 1995 |
Ahn J, Lüdecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genetics. 11: 137-43. PMID 7550340 DOI: 10.1038/Ng1095-137 |
0.363 |
|
| 1993 |
Ramirez F, Pereira L, Zhang H, Lee B. The fibrillin-Marfan syndrome connection. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 15: 589-94. PMID 8240311 DOI: 10.1002/Bies.950150904 |
0.569 |
|
| 1992 |
Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, Viljoen D, Sykes BC, Kilpatrick M, Ramirez F, Farndon PA, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5 New England Journal of Medicine. 326: 905-909. PMID 1542340 DOI: 10.1056/Nejm199204023261401 |
0.541 |
|
| 1992 |
Padanilam BJ, Stadler HS, Mills KA, McLeod LB, Solursh M, Lee B, Ramirez F, Buetow KH, Murray JC. Characterization of the human HOX 7 cDNA and identification of polymorphic markers. Human Molecular Genetics. 1: 407-10. PMID 1284527 DOI: 10.1093/Hmg/1.6.407 |
0.525 |
|
| 1991 |
Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 352: 330-4. PMID 1852206 DOI: 10.1038/352330A0 |
0.562 |
|
| 1990 |
Su MW, Lee B, Ramirez F, Machado M, Horton W. Nucleotide sequence of the full length cDNA encoding for human type II procollagen. Nucleic Acids Research. 17: 9473. PMID 2587267 DOI: 10.1093/Nar/17.22.9473 |
0.502 |
|
| 1990 |
Ramirez F, Boast S, D'Alessio M, Lee B, Prince J, Su MW, Vissing H, Yoshioka H. Fibrillar collagen genes. Structure and expression in normal and diseased states Annals of the New York Academy of Sciences. 580: 74-80. PMID 2186697 DOI: 10.1111/J.1749-6632.1990.Tb17919.X |
0.567 |
|
| 1990 |
Vissing H, Rasmussen M, D'alessio M, Lee B, Dobkin C, Ramirez F. A glycine to serine polymorphism in the C-propeptide of the human type II procollagen Nucleic Acids Research. 18: 3431. PMID 1972570 DOI: 10.1093/Nar/18.11.3431 |
0.491 |
|
| 1990 |
LEE B, VISSING H, RAMIREZ F, ROGERS D, RIMOIN D. Single Exon Deletion in One COL2A1 Allele in Spondyloepiphyseal Dysplasia Annals of the New York Academy of Sciences. 580: 562-563. DOI: 10.1111/J.1749-6632.1990.Tb17993.X |
0.519 |
|
| 1990 |
Vissing H, Lee B, D'Alessio M, Ramirez F, Byers P, Superti-Furga A, Steinmann B. Characterization of large deletions in the pro-α1(III) mRNA from two Ehlers-Danlos type IV patients Annals of the New York Academy of Sciences. 580: 552-553. DOI: 10.1111/J.1749-6632.1990.Tb17988.X |
0.504 |
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| 1989 |
Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science (New York, N.Y.). 244: 978-80. PMID 2543071 DOI: 10.1126/Science.2543071 |
0.574 |
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| Show low-probability matches. |