Arthur L. Beaudet - Publications

Baylor College of Medicine, Houston, TX 
Genomic imprinting, epigenetics, and angelman syndrome

303 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, ... ... Beaudet AL, et al. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32576985 DOI: 10.1038/s41436-020-0864-8  0.6
2019 Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, ... ... Beaudet AL, et al. Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480. PMID 31216405 DOI: 10.1056/NEJMc1812033  0.6
2019 Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, ... ... Beaudet AL, et al. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine. 11: 30. PMID 31101064 DOI: 10.1186/s13073-019-0639-5  0.6
2019 Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Global Pediatric Health. 6: 2333794X19830696. PMID 30815516 DOI: 10.1177/2333794X19830696  0.48
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, ... ... Beaudet AL, 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  0.6
2017 Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, ... ... Beaudet AL, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. Jama Pediatrics. e173438. PMID 28973083 DOI: 10.1001/jamapediatrics.2017.3438  0.6
2017 Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Beaudet AL, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/s13073-017-0472-7  0.48
2017 Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, ... ... Beaudet AL, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Medicine. 9: 26. PMID 28327206 DOI: 10.1186/s13073-017-0412-6  0.6
2017 Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, ... ... Beaudet AL, et al. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28125085 DOI: 10.1038/gim.2016.215  0.6
2016 Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. The New England Journal of Medicine. PMID 27959697 DOI: 10.1056/NEJMoa1516767  0.6
2016 Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, ... ... Beaudet AL, et al. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenatal Diagnosis. PMID 27616633 DOI: 10.1002/pd.4924  0.48
2016 Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. Journal of Inherited Metabolic Disease. PMID 27225280 DOI: 10.1007/s10545-016-9944-y  0.48
2016 Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harbor Perspectives in Biology. 8. PMID 26834142 DOI: 10.1101/cshperspect.a019497  0.6
2016 White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, ... ... Beaudet AL, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine. 8: 3. PMID 26739615 DOI: 10.1186/s13073-015-0253-0  0.48
2015 Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, ... ... Beaudet AL, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. American Journal of Human Genetics. 97: 904-13. PMID 26637980 DOI: 10.1016/j.ajhg.2015.11.006  0.48
2015 Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, ... Beaudet AL, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633545 DOI: 10.1038/gim.2015.142  0.48
2015 Beaudet AL. Preimplantation genetic screens. Science (New York, N.Y.). 349: 1423. PMID 26404799 DOI: 10.1126/science.aad4803  0.44
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". American Journal of Medical Genetics. Part A. 167: 2496. PMID 26355286 DOI: 10.1002/ajmg.a.37192  0.48
2015 Beaudet AL. Global genetic carrier testing: a vision for the future. Genome Medicine. 7: 79. PMID 26221188 DOI: 10.1186/s13073-015-0204-9  0.44
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. American Journal of Medical Genetics. Part A. 167: 2162-7. PMID 25943046 DOI: 10.1002/ajmg.a.37144  0.48
2015 Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. Journal of Inherited Metabolic Disease. PMID 25875217 DOI: 10.1007/s10545-015-9843-7  0.48
2015 Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, ... ... Beaudet AL, et al. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry. 77: 775-84. PMID 25534755 DOI: 10.1016/j.biopsych.2014.09.017  0.44
2015 Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Beaudet AL, et al. Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment Obstetrical and Gynecological Survey. 70: 164-167. DOI: 10.1097/01.ogx.0000462915.64193.1b  0.48
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation" American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37192  0.48
2014 Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, ... ... Beaudet AL, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics. 95: 579-83. PMID 25439098 DOI: 10.1016/j.ajhg.2014.09.014  0.44
2014 Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Beaudet AL, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Jama. 312: 1870-9. PMID 25326635 DOI: 10.1001/jama.2014.14601  0.44
2014 Beaudet AL. Reaching a CNV milestone. Nature Genetics. 46: 1046-8. PMID 25257083 DOI: 10.1038/ng.3106  0.44
2014 Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, ... ... Beaudet AL, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/aur.1378  0.44
2014 Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, ... ... Beaudet AL, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. American Journal of Human Genetics. 94: 784-9. PMID 24791903 DOI: 10.1016/j.ajhg.2014.04.006  0.44
2014 Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, ... ... Beaudet A, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/journal.pgen.1004258  0.44
2014 Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, et al. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics : Ejhg. 22: 79-87. PMID 23695279 DOI: 10.1038/ejhg.2013.77  0.44
2013 Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet AL. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. Plos Genetics. 9: e1004039. PMID 24385930 DOI: 10.1371/journal.pgen.1004039  0.44
2013 Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, ... ... Beaudet AL, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine. 369: 1502-11. PMID 24088041 DOI: 10.1056/NEJMoa1306555  0.44
2013 Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, et al. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. Plos Genetics. 9: e1003797. PMID 24086149 DOI: 10.1371/journal.pgen.1003797  0.44
2013 Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genetics. 45: 1405-8. PMID 24076603 DOI: 10.1038/ng.2776  0.44
2013 Brunetti-Pierri N, Ng T, Iannitti D, Cioffi W, Stapleton G, Law M, Breinholt J, Palmer D, Grove N, Rice K, Bauer C, Finegold M, Beaudet A, Mullins C, Ng P. Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors. Human Gene Therapy. 24: 761-5. PMID 23902403 DOI: 10.1089/hum.2013.071  0.44
2013 Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, ... ... Beaudet AL, et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. American Journal of Human Genetics. 93: 197-210. PMID 23810381 DOI: 10.1016/j.ajhg.2013.05.027  0.44
2013 Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Research. 23: 1383-94. PMID 23685542 DOI: 10.1101/gr.156075.113  0.44
2013 Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, ... ... Beaudet AL, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research. 23: 1395-409. PMID 23657883 DOI: 10.1101/gr.152454.112  0.44
2013 Wu RC, Jiang M, Beaudet AL, Wu MY. ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathways. Proceedings of the National Academy of Sciences of the United States of America. 110: 4616-21. PMID 23487765 DOI: 10.1073/pnas.1218318110  0.44
2013 Beaudet AL. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Development. 84: 121-32. PMID 23311723 DOI: 10.1111/cdev.12050  0.44
2013 Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 450-7. PMID 23238528 DOI: 10.1038/gim.2012.152  0.44
2013 Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, ... ... Beaudet AL, et al. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. European Journal of Human Genetics : Ejhg. 21: 173-81. PMID 22929023 DOI: 10.1038/ejhg.2012.155  0.44
2013 Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 45-54. PMID 22878507 DOI: 10.1038/gim.2012.95  0.44
2012 Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, ... ... Beaudet AL, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England Journal of Medicine. 367: 2175-84. PMID 23215555 DOI: 10.1056/NEJMoa1203382  0.44
2012 Beaudet AL. Neuroscience. Preventable forms of autism? Science (New York, N.Y.). 338: 342-3. PMID 23087240 DOI: 10.1126/science.1229178  0.44
2012 Howard HJ, Beaudet A, Gil-da-Silva Lopes V, Lyne M, Suthers G, Van den Akker P, Wertheim-Tysarowska K, Willems P, Macrae F. Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. American Journal of Medical Genetics. Part A. 158: 2763-6. PMID 22991212 DOI: 10.1002/ajmg.a.35392  0.44
2012 Schroer RJ, Beaudet AL, Shinawi M, Sahoo T, Patel A, Sun Q, Skinner C, Stevenson RE. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. American Journal of Medical Genetics. Part A. 158: 2602-5. PMID 22965764 DOI: 10.1002/ajmg.a.35566  0.44
2012 Duncan AW, Hanlon Newell AE, Bi W, Finegold MJ, Olson SB, Beaudet AL, Grompe M. Aneuploidy as a mechanism for stress-induced liver adaptation. The Journal of Clinical Investigation. 122: 3307-15. PMID 22863619 DOI: 10.1172/JCI64026  0.44
2012 Brunetti-Pierri N, Liou A, Patel P, Palmer D, Grove N, Finegold M, Piccolo P, Donnachie E, Rice K, Beaudet A, Mullins C, Ng P. Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques. Molecular Therapy : the Journal of the American Society of Gene Therapy. 20: 1863-70. PMID 22828499 DOI: 10.1038/mt.2012.143  0.44
2012 Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, ... ... Beaudet AL, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/pnas.1120210109  0.44
2012 Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC. An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice. Plos One. 7: e34348. PMID 22496793 DOI: 10.1371/journal.pone.0034348  0.44
2012 Meng L, Person RE, Beaudet AL. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Human Molecular Genetics. 21: 3001-12. PMID 22493002 DOI: 10.1093/hmg/dds130  0.44
2012 Celestino-Soper PB, Skinner C, Schroer R, Eng P, Shenai J, Nowaczyk MM, Terespolsky D, Cushing D, Patel GS, Immken L, Willis A, Wiszniewska J, Matalon R, Rosenfeld JA, Stevenson RE, ... ... Beaudet AL, et al. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Molecular Cytogenetics. 5: 17. PMID 22480366 DOI: 10.1186/1755-8166-5-17  0.44
2012 Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenatal Diagnosis. 32: 10-20. PMID 22470934 DOI: 10.1002/pd.2855  0.44
2012 Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenatal Diagnosis. 32: 351-61. PMID 22467166 DOI: 10.1002/pd.3861  0.44
2012 Beaudet AL. Angelman syndrome: Drugs to awaken a paternal gene. Nature. 481: 150-2. PMID 22190038 DOI: 10.1038/nature10784  0.44
2012 Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. European Journal of Human Genetics : Ejhg. 20: 283-90. PMID 22045295 DOI: 10.1038/ejhg.2011.187  0.44
2011 Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. Bmc Medical Genetics. 12: 154. PMID 22118685 DOI: 10.1186/1471-2350-12-154  0.44
2011 Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, ... ... Beaudet AL, et al. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. American Journal of Medical Genetics. Part A. 155: 2956-63. PMID 22002941 DOI: 10.1002/ajmg.a.34297  0.44
2011 Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, ... ... Beaudet AL, et al. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics. 20: 4360-70. PMID 21865298 DOI: 10.1093/hmg/ddr363  0.44
2011 Schaaf CP, Wiszniewska J, Beaudet AL. Copy number and SNP arrays in clinical diagnostics. Annual Review of Genomics and Human Genetics. 12: 25-51. PMID 21801020 DOI: 10.1146/annurev-genom-092010-110715  0.44
2011 Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Beaudet AL, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/j.neuron.2011.05.002  0.44
2011 Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. American Journal of Medical Genetics. Part A. 155: 1272-80. PMID 21567907 DOI: 10.1002/ajmg.a.33878  0.44
2011 Wang X, McCoy PA, Rodriguiz RM, Pan Y, Je HS, Roberts AC, Kim CJ, Berrios J, Colvin JS, Bousquet-Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, ... Beaudet AL, et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics. 20: 3093-108. PMID 21558424 DOI: 10.1093/hmg/ddr212  0.44
2011 Beaudet AL. Progress toward noninvasive prenatal diagnosis. Clinical Chemistry. 57: 802-4. PMID 21502312 DOI: 10.1373/clinchem.2011.165563  0.44
2011 Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet. 377: 555-6. PMID 21315943 DOI: 10.1016/S0140-6736(11)60201-8  0.44
2011 Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, et al. Angelman syndrome: Mutations influence features in early childhood. American Journal of Medical Genetics. Part A. 155: 81-90. PMID 21204213 DOI: 10.1002/ajmg.a.33775  0.44
2011 Dimmock D, Brunetti-Pierri N, Palmer DJ, Beaudet AL, Ng P. Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. Human Gene Therapy. 22: 483-8. PMID 20973621 DOI: 10.1089/hum.2010.167  0.44
2010 Beaudet AL, Goin-Kochel RP. Some, but not complete, reassurance on the safety of folic acid fortification. The American Journal of Clinical Nutrition. 92: 1287-8. PMID 21048057 DOI: 10.3945/ajcn.110.004473  0.44
2010 Bernstein BE, Stamatoyannopoulos JA, Costello JF, Ren B, Milosavljevic A, Meissner A, Kellis M, Marra MA, Beaudet AL, Ecker JR, Farnham PJ, Hirst M, Lander ES, Mikkelsen TS, Thomson JA. The NIH Roadmap Epigenomics Mapping Consortium. Nature Biotechnology. 28: 1045-8. PMID 20944595 DOI: 10.1038/nbt1010-1045  0.44
2010 Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, ... ... Beaudet AL, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation. 31: 1326-42. PMID 20848651 DOI: 10.1002/humu.21360  0.44
2010 Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. Plos One. 5: e12278. PMID 20808828 DOI: 10.1371/journal.pone.0012278  0.44
2010 Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. Journal of Developmental and Behavioral Pediatrics : Jdbp. 31: 592-601. PMID 20729760 DOI: 10.1097/DBP.0b013e3181ee408e  0.44
2010 Beaudet AL. Which way for genetic-test regulation? Leave test interpretation to specialists. Nature. 466: 816-7. PMID 20703287 DOI: 10.1038/466816a  0.44
2010 Beaudet AL. Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice. Genome Medicine. 2: 42. PMID 20642868 DOI: 10.1186/gm163  0.44
2010 Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. American Journal of Medical Genetics. Part A. 152: 1994-2001. PMID 20635355 DOI: 10.1002/ajmg.a.33509  0.44
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, ... Beaudet AL, 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  0.44
2010 Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, ... ... Beaudet AL, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Human Mutation. 31: 840-50. PMID 20506139 DOI: 10.1002/humu.21284  0.44
2010 Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, ... ... Beaudet AL, et al. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. American Journal of Medical Genetics. Part A. 152: 573-81. PMID 20186804 DOI: 10.1002/ajmg.a.33253  0.44
2010 Buie T, Campbell DB, Fuchs GJ, Furuta GT, Levy J, Vandewater J, Whitaker AH, Atkins D, Bauman ML, Beaudet AL, Carr EG, Gershon MD, Hyman SL, Jirapinyo P, Jyonouchi H, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 125: S1-18. PMID 20048083 DOI: 10.1542/peds.2009-1878C  0.44
2010 Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, ... ... Beaudet AL, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics. 47: 332-41. PMID 19914906 DOI: 10.1136/jmg.2009.073015  0.44
2009 Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nature Genetics. 41: 1269-71. PMID 19898479 DOI: 10.1038/ng.481  0.44
2009 Dindot SV, Person R, Strivens M, Garcia R, Beaudet AL. Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions. Genome Research. 19: 1374-83. PMID 19542493 DOI: 10.1101/gr.089185.108  0.44
2009 Goin-Kochel RP, Porter AE, Peters SU, Shinawi M, Sahoo T, Beaudet AL. The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations. Autism Research : Official Journal of the International Society For Autism Research. 2: 98-108. PMID 19455642 DOI: 10.1002/aur.70  0.44
2009 Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL. Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. The Journal of Molecular Diagnostics : Jmd. 11: 226-37. PMID 19324990 DOI: 10.2353/jmoldx.2009.080064  0.44
2009 Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, ... ... Beaudet AL, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics. 46: 382-8. PMID 19289393 DOI: 10.1136/jmg.2008.064378  0.44
2009 Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, ... ... Beaudet AL, et al. Increased LIS1 expression affects human and mouse brain development. Nature Genetics. 41: 168-77. PMID 19136950 DOI: 10.1038/ng.302  0.44
2009 Brunetti-Pierri N, Stapleton GE, Law M, Breinholt J, Palmer DJ, Zuo Y, Grove NC, Finegold MJ, Rice K, Beaudet AL, Mullins CE, Ng P. Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. Molecular Therapy : the Journal of the American Society of Gene Therapy. 17: 327-33. PMID 19050700 DOI: 10.1038/mt.2008.257  0.44
2009 Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, ... Beaudet AL, et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenatal Diagnosis. 29: 29-39. PMID 19012303 DOI: 10.1002/pd.2127  0.44
2009 Ogilvie CM, Yaron Y, Beaudet AL. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenatal Diagnosis. 29: 11-4. PMID 19012273 DOI: 10.1002/pd.2107  0.44
2008 Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 122: 1310-8. PMID 19047251 DOI: 10.1542/peds.2008-0297  0.44
2008 Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenatal Diagnosis. 28: 943-9. PMID 18792925 DOI: 10.1002/pd.2087  0.44
2008 del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Human Mutation. 29: 1100-7. PMID 18752307 DOI: 10.1002/humu.20841  0.44
2008 Wu MY, Eldin KW, Beaudet AL. Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes. Journal of the National Cancer Institute. 100: 1247-59. PMID 18728284 DOI: 10.1093/jnci/djn253  0.44
2008 Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. American Journal of Medical Genetics. Part A. 146: 2242-51. PMID 18663743 DOI: 10.1002/ajmg.a.32399  0.44
2008 Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics. 40: 719-21. PMID 18500341 DOI: 10.1038/ng.158  0.44
2008 Beaudet AL. Allan Award lecture: Rare patients leading to epigenetics and back to genetics. American Journal of Human Genetics. 82: 1034-8. PMID 18468009 DOI: 10.1016/j.ajhg.2008.04.009  0.44
2008 Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 278-89. PMID 18414211 DOI: 10.1097/GIM.0b013e31816b4420  0.44
2008 Beaudet AL. Epigenetics and complex human disease: is there a role in IBD? Journal of Pediatric Gastroenterology and Nutrition. 46: E2. PMID 18354324 DOI: 10.1097/01.mpg.0000313815.73649.37  0.44
2008 Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. Bmc Genomics. 9: 50. PMID 18226259 DOI: 10.1186/1471-2164-9-50  0.44
2008 Beaudet AL, Belmont JW. Array-based DNA diagnostics: let the revolution begin. Annual Review of Medicine. 59: 113-29. PMID 17961075 DOI: 10.1146/  0.44
2008 Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Human Molecular Genetics. 17: 111-8. PMID 17940072 DOI: 10.1093/hmg/ddm288  0.44
2007 Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW. Microarray analysis for constitutional cytogenetic abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 654-62. PMID 17873655 DOI: 10.1097/GIM.0b013e31814ce3d9  0.44
2007 Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, ... ... Beaudet AL, et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 427-41. PMID 17666889 DOI: 10.1097/GIM.0b013e3180986192  0.44
2007 Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, ... ... Beaudet AL, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. American Journal of Medical Genetics. Part A. 143: 1679-86. PMID 17607705 DOI: 10.1002/ajmg.a.31740  0.44
2007 Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. European Journal of Human Genetics : Ejhg. 15: 943-9. PMID 17522620 DOI: 10.1038/sj.ejhg.5201859  0.44
2007 Beaudet AL. Autism: highly heritable but not inherited. Nature Medicine. 13: 534-6. PMID 17479094 DOI: 10.1038/nm0507-534  0.44
2007 Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Current Opinion in Genetics & Development. 17: 182-92. PMID 17467974 DOI: 10.1016/j.gde.2007.04.009  0.44
2007 Brunetti-Pierri N, Stapleton GE, Palmer DJ, Zuo Y, Mane VP, Finegold MJ, Beaudet AL, Leland MM, Mullins CE, Ng P. Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 732-40. PMID 17285138 DOI: 10.1038/  0.44
2007 Bullard DC, Hu X, Schoeb TR, Collins RG, Beaudet AL, Barnum SR. Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis. Journal of Immunology (Baltimore, Md. : 1950). 178: 851-7. PMID 17202346  0.44
2007 Van Den Veyver IB, Simpson JL, Beaudet AL. DNA microarrays: A promising new option for prenatal diagnosis Contemporary Ob/Gyn. 52: 32-40.  0.44
2006 del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, ... ... Beaudet AL, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 784-92. PMID 17172942 DOI: 10.1097/01.gim.0000250502.28516.3c  0.44
2006 Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, ... ... Beaudet AL, et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 719-27. PMID 17108764 DOI: 10.1097/01.gim.0000245576.47154.63  0.44
2006 Wu MY, Tsai TF, Beaudet AL. Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes & Development. 20: 2859-70. PMID 17043311 DOI: 10.1101/gad.1452206  0.44
2006 Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. The Journal of Pediatrics. 149: 192-8. PMID 16887432 DOI: 10.1016/j.jpeds.2006.04.013  0.44
2006 Brunetti-Pierri N, Ng T, Iannitti DA, Palmer DJ, Beaudet AL, Finegold MJ, Carey KD, Cioffi WG, Ng P. Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates. Human Gene Therapy. 17: 391-404. PMID 16610927 DOI: 10.1089/hum.2006.17.391  0.44
2006 Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Current Opinion in Obstetrics & Gynecology. 18: 185-91. PMID 16601480 DOI: 10.1097/  0.44
2006 Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A. 140: 413-8. PMID 16470747 DOI: 10.1002/ajmg.a.31074  0.44
2006 Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL. Mouse imprinting defect mutations that model Angelman syndrome. Genesis (New York, N.Y. : 2000). 44: 12-22. PMID 16397868 DOI: 10.1002/gene.20179  0.44
2006 Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. Journal of Medical Genetics. 43: 512-6. PMID 16183798 DOI: 10.1136/jmg.2005.036913  0.44
2005 Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. American Journal of Medical Genetics. Part A. 139: 106-13. PMID 16284940 DOI: 10.1002/ajmg.a.31000  0.44
2005 Farmen SL, Karp PH, Ng P, Palmer DJ, Koehler DR, Hu J, Beaudet AL, Zabner J, Welsh MJ. Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR. American Journal of Physiology. Lung Cellular and Molecular Physiology. 289: L1123-30. PMID 16085675 DOI: 10.1152/ajplung.00049.2005  0.44
2005 Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 7: 422-32. PMID 16024975 DOI: 10.1097/01.GIM.0000170992.63691.32  0.44
2005 Brunetti-Pierri N, Nichols TC, McCorquodale S, Merricks E, Palmer DJ, Beaudet AL, Ng P. Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector. Human Gene Therapy. 16: 811-20. PMID 16000063 DOI: 10.1089/hum.2005.16.811  0.44
2005 Brunetti-Pierri N, Palmer DJ, Mane V, Finegold M, Beaudet AL, Ng P. Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 99-106. PMID 15963925 DOI: 10.1016/j.ymthe.2005.03.001  0.44
2005 Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Annals of Neurology. 57: 557-60. PMID 15786446 DOI: 10.1002/ana.20419  0.44
2005 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. Proceedings of the National Academy of Sciences of the United States of America. 102: 3930-5. PMID 15753292 DOI: 10.1073/pnas.0500930102  0.44
2005 Liang Y, Salas R, Marubio L, Bercovich D, De Biasi M, Beaudet AL, Dani JA. Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors. Neurogenetics. 6: 37-44. PMID 15742216 DOI: 10.1007/s10048-004-0199-7  0.44
2005 Arredondo J, Chernyavsky AI, Marubio LM, Beaudet AL, Jolkovsky DL, Pinkerton KE, Grando SA. Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells. The American Journal of Pathology. 166: 597-613. PMID 15681842  0.44
2004 Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clinical Genetics. 66: 530-6. PMID 15521981 DOI: 10.1111/j.1399-0004.2004.00362.x  0.44
2004 Jiang YH, Bressler J, Beaudet AL. Epigenetics and human disease. Annual Review of Genomics and Human Genetics. 5: 479-510. PMID 15485357 DOI: 10.1146/annurev.genom.5.061903.180014  0.44
2004 Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal of Medical Genetics. Part A. 131: 1-10. PMID 15389703 DOI: 10.1002/ajmg.a.30297  0.44
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  0.44
2004 Beaudet AL. Complex imprinting. Nature Genetics. 36: 793-5. PMID 15284847 DOI: 10.1038/ng0804-793  0.44
2004 Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Current Opinion in Pediatrics. 16: 419-26. PMID 15273504 DOI: 10.1097/  0.44
2004 Robker RL, Collins RG, Beaudet AL, Mersmann HJ, Smith CW. Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors. Obesity Research. 12: 936-40. PMID 15229332 DOI: 10.1038/oby.2004.114  0.44
2004 Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics. Part A. 128: 110-3. PMID 15213998 DOI: 10.1002/ajmg.a.30065  0.44
2004 Nguyen VT, Chernyavsky AI, Arredondo J, Bercovich D, Orr-Urtreger A, Vetter DE, Wess J, Beaudet AL, Kitajima Y, Grando SA. Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes. Experimental Cell Research. 294: 534-49. PMID 15023540 DOI: 10.1016/j.yexcr.2003.12.010  0.44
2004 Kedmi M, Beaudet AL, Orr-Urtreger A. Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. Physiological Genomics. 17: 221-9. PMID 14996991 DOI: 10.1152/physiolgenomics.00202.2003  0.44
2004 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. 327: 153-60. PMID 14980712 DOI: 10.1016/j.gene.2003.11.024  0.44
2004 Brunetti-Pierri N, Palmer DJ, Beaudet AL, Carey KD, Finegold M, Ng P. Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates. Human Gene Therapy. 15: 35-46. PMID 14965376 DOI: 10.1089/10430340460732445  0.44
2004 Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. Journal of Medical Genetics. 41: 113-9. PMID 14757858  0.44
2003 Tsai TF, Bressler J, Jiang YH, Beaudet AL. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis (New York, N.Y. : 2000). 37: 151-61. PMID 14666508 DOI: 10.1002/gene.10237  0.44
2003 Bercovich D, Beaudet AL. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. Genetic Testing. 7: 189-94. PMID 14641994 DOI: 10.1089/109065703322537197  0.44
2003 Dunne JL, Collins RG, Beaudet AL, Ballantyne CM, Ley K. Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation. Journal of Immunology (Baltimore, Md. : 1950). 171: 6105-11. PMID 14634125  0.44
2003 Lee SH, Prince JE, Rais M, Kheradmand F, Shardonofsky F, Lu H, Beaudet AL, Smith CW, Soong L, Corry DB. Differential requirement for CD18 in T-helper effector homing. Nature Medicine. 9: 1281-6. PMID 14502280 DOI: 10.1038/nm932  0.44
2003 Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Human Molecular Genetics. 12: 2145-52. PMID 12915473 DOI: 10.1093/hmg/ddg230  0.44
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  0.44
2003 Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 2634-44. PMID 12684449  0.44
2003 Arredondo J, Hall LL, Ndoye A, Nguyen VT, Chernyavsky AI, Bercovich D, Orr-Urtreger A, Beaudet AL, Grando SA. Central role of fibroblast alpha3 nicotinic acetylcholine receptor in mediating cutaneous effects of nicotine. Laboratory Investigation; a Journal of Technical Methods and Pathology. 83: 207-25. PMID 12594236  0.44
2002 Li K, Ramirez MA, Rose E, Beaudet AL. A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor. Human Molecular Genetics. 11: 3257-65. PMID 12471052 DOI: 10.1093/hmg/11.26.3257  0.44
2002 Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clinical Chemistry. 48: 1913-8. PMID 12406975  0.44
2002 Beaudet AL. Is medical genetics neglecting epigenetics? Genetics in Medicine : Official Journal of the American College of Medical Genetics. 4: 399-402. PMID 12394355 DOI: 10.1097/00125817-200209000-00013  0.44
2002 Shlush LI, Behar DM, Zelazny A, Keller N, Lupski JR, Beaudet AL, Bercovich D. Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. Journal of Clinical Microbiology. 40: 3565-71. PMID 12354847 DOI: 10.1128/JCM.40.10.3565-3571.2002  0.44
2002 Zhou HS, Zhao T, Rao XM, Beaudet AL. Production of helper-dependent adenovirus vector relies on helper virus structure and complementing. The Journal of Gene Medicine. 4: 498-509. PMID 12221643 DOI: 10.1002/jgm.301  0.44
2002 Tsai TF, Chen KS, Weber JS, Justice MJ, Beaudet AL. Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Human Molecular Genetics. 11: 1659-68. PMID 12075010  0.44
2002 Beaudet AL, Jiang YH. A rheostat model for a rapid and reversible form of imprinting-dependent evolution. American Journal of Human Genetics. 70: 1389-97. PMID 11992247 DOI: 10.1086/340969  0.44
2002 Whiteaker P, Peterson CG, Xu W, McIntosh JM, Paylor R, Beaudet AL, Collins AC, Marks MJ. Involvement of the alpha3 subunit in central nicotinic binding populations. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 2522-9. PMID 11923417  0.44
2002 Zhou H, Pastore L, Beaudet AL. Helper-dependent adenoviral vectors. Methods in Enzymology. 346: 177-98. PMID 11883068 DOI: 10.1016/S0076-6879(02)46056-9  0.44
2002 Toietta G, Pastore L, Cerullo V, Finegold M, Beaudet AL, Lee B. Generation of helper-dependent adenoviral vectors by homologous recombination. Molecular Therapy : the Journal of the American Society of Gene Therapy. 5: 204-10. PMID 11829528 DOI: 10.1006/mthe.2002.0532  0.44
2002 Morral N, O'Neal WK, Rice K, Leland MM, Piedra PA, Aguilar-Córdova E, Carey KD, Beaudet AL, Langston C. Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons. Human Gene Therapy. 13: 143-54. PMID 11779418 DOI: 10.1089/10430340152712692  0.44
2002 Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O'Malley BW. Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction. Molecular and Cellular Biology. 22: 525-35. PMID 11756548 DOI: 10.1128/MCB.22.2.525-535.2002  0.44
2002 Dunne JL, Ballantyne CM, Beaudet AL, Ley K. Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1. Blood. 99: 336-41. PMID 11756189 DOI: 10.1182/blood.V99.1.336  0.44
2001 Sampson MJ, Decker WK, Beaudet AL, Ruitenbeek W, Armstrong D, Hicks MJ, Craigen WJ. Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. The Journal of Biological Chemistry. 276: 39206-12. PMID 11507092 DOI: 10.1074/jbc.M104724200  0.44
2001 Collins RG, Jung U, Ramirez M, Bullard DC, Hicks MJ, Smith CW, Ley K, Beaudet AL. Dermal and pulmonary inflammatory disease in E-selectin and P-selectin double-null mice is reduced in triple-selectin-null mice. Blood. 98: 727-35. PMID 11468173 DOI: 10.1182/blood.V98.3.727  0.44
2001 Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL. Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. Journal of Human Genetics. 46: 362-6. PMID 11450844 DOI: 10.1007/PL00010921  0.44
2001 Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, Armstrong D, Beaudet AL. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nature Genetics. 28: 232-40. PMID 11431693 DOI: 10.1038/90067  0.44
2001 Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 56: 1113. PMID 11320193  0.44
2001 Zhou H, Zhao T, Pastore L, Nageh M, Zheng W, Rao XM, Beaudet AL. A Cre-expressing cell line and an E1/E2a double-deleted virus for preparation of helper-dependent adenovirus vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 3: 613-22. PMID 11319924 DOI: 10.1006/mthe.2001.0288  0.44
2001 Davis RJ, Shen W, Sandler YI, Amoui M, Purcell P, Maas R, Ou CN, Vogel H, Beaudet AL, Mardon G. Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Molecular and Cellular Biology. 21: 1484-90. PMID 11238885 DOI: 10.1128/MCB.21.5.1484-1490.2001  0.44
2001 Manka D, Collins RG, Ley K, Beaudet AL, Sarembock IJ. Absence of p-selectin, but not intercellular adhesion molecule-1, attenuates neointimal growth after arterial injury in apolipoprotein e-deficient mice. Circulation. 103: 1000-5. PMID 11181476 DOI: 10.1161/01.CIR.103.7.1000  0.44
2000 O'Neal WK, Rose E, Zhou H, Langston C, Rice K, Carey D, Beaudet AL. Multiple advantages of alpha-fetoprotein as a marker for in vivo gene transfer. Molecular Therapy : the Journal of the American Society of Gene Therapy. 2: 640-8. PMID 11124066 DOI: 10.1006/mthe.2000.0198  0.44
2000 Forlow SB, White EJ, Barlow SC, Feldman SH, Lu H, Bagby GJ, Beaudet AL, Bullard DC, Ley K. Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice. The Journal of Clinical Investigation. 106: 1457-66. PMID 11120753 DOI: 10.1172/JCI10555  0.44
2000 Zhou H, Beaudet AL. A new vector system with inducible E2a cell line for production of higher titer and safer adenoviral vectors. Virology. 275: 348-57. PMID 10998335 DOI: 10.1006/viro.2000.0515  0.44
2000 O'Neal WK, Zhou H, Morral N, Langston C, Parks RJ, Graham FL, Kochanek S, Beaudet AL. Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector. Molecular Medicine (Cambridge, Mass.). 6: 179-95. PMID 10965494  0.44
2000 Franceschini D, Orr-Urtreger A, Yu W, Mackey LY, Bond RA, Armstrong D, Patrick JW, Beaudet AL, De Biasi M. Altered baroreflex responses in alpha7 deficient mice. Behavioural Brain Research. 113: 3-10. PMID 10942027 DOI: 10.1016/S0166-4328(00)00195-9  0.44
2000 Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proceedings of the National Academy of Sciences of the United States of America. 97: 8021-6. PMID 10869432 DOI: 10.1073/pnas.140082197  0.44
2000 Sweeney EA, Priestley GV, Nakamoto B, Collins RG, Beaudet AL, Papayannopoulou T. Mobilization of stem/progenitor cells by sulfated polysaccharides does not require selectin presence. Proceedings of the National Academy of Sciences of the United States of America. 97: 6544-9. PMID 10841555 DOI: 10.1073/pnas.97.12.6544  0.44
2000 Orr-Urtreger A, Broide RS, Kasten MR, Dang H, Dani JA, Beaudet AL, Patrick JW. Mice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birth. Journal of Neurochemistry. 74: 2154-66. PMID 10800961 DOI: 10.1046/j.1471-4159.2000.0742154.x  0.44
2000 Collins RG, Velji R, Guevara NV, Hicks MJ, Chan L, Beaudet AL. P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice. The Journal of Experimental Medicine. 191: 189-94. PMID 10620617 DOI: 10.1084/jem.191.1.189  0.44
1999 Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 24: 879-92. PMID 10624951 DOI: 10.1016/S0896-6273(00)81035-1  0.44
1999 Willmroth F, Beaudet AL. Structure of the murine E-selectin ligand 1 (ESL-1) gene and assignment to Chromosome 8. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 1085-8. PMID 10556428 DOI: 10.1007/s003359901166  0.44
1999 Morral N, O'Neal W, Rice K, Leland M, Kaplan J, Piedra PA, Zhou H, Parks RJ, Velji R, Aguilar-Córdova E, Wadsworth S, Graham FL, Kochanek S, Carey KD, Beaudet AL. Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons. Proceedings of the National Academy of Sciences of the United States of America. 96: 12816-21. PMID 10536005 DOI: 10.1073/pnas.96.22.12816  0.44
1999 Xu W, Orr-Urtreger A, Nigro F, Gelber S, Sutcliffe CB, Armstrong D, Patrick JW, Role LW, Beaudet AL, De Biasi M. Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 19: 9298-305. PMID 10531434  0.44
1999 Bullard DC, Mobley JM, Justen JM, Sly LM, Chosay JG, Dunn CJ, Lindsey JR, Beaudet AL, Staite ND. Acceleration and increased severity of collagen-induced arthritis in P-selectin mutant mice. Journal of Immunology (Baltimore, Md. : 1950). 163: 2844-9. PMID 10453030  0.44
1999 Pastore L, Morral N, Zhou H, Garcia R, Parks RJ, Kochanek S, Graham FL, Lee B, Beaudet AL. Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors. Human Gene Therapy. 10: 1773-81. PMID 10446917 DOI: 10.1089/10430349950017455  0.44
1999 Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Human Molecular Genetics. 8: 1357-64. PMID 10400982 DOI: 10.1093/hmg/8.8.1357  0.44
1999 Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. American Journal of Human Genetics. 65: 1-6. PMID 10364509 DOI: 10.1086/302473  0.44
1999 Tsai TF, Armstrong D, Beaudet AL. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nature Genetics. 22: 15-6. PMID 10319852 DOI: 10.1038/8722  0.44
1999 Xu W, Gelber S, Orr-Urtreger A, Armstrong D, Lewis RA, Ou CN, Patrick J, Role L, De Biasi M, Beaudet AL. Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. Proceedings of the National Academy of Sciences of the United States of America. 96: 5746-51. PMID 10318955 DOI: 10.1073/pnas.96.10.5746  0.44
1999 Mizgerd JP, Bullard DC, Hicks MJ, Beaudet AL, Doerschuk CM. Chronic inflammatory disease alters adhesion molecule requirements for acute neutrophil emigration in mouse skin. Journal of Immunology (Baltimore, Md. : 1950). 162: 5444-8. PMID 10228023  0.44
1999 Lee B, Dennis JA, Healy PJ, Mull B, Pastore L, Yu H, Aguilar-Cordova E, O'Brien W, Reeds P, Beaudet AL. Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. Proceedings of the National Academy of Sciences of the United States of America. 96: 3981-6. PMID 10097149 DOI: 10.1073/pnas.96.7.3981  0.44
1999 Beaudet AL. 1998 ASHG presidential address. Making genomic medicine a reality. American Journal of Human Genetics. 64: 1-13. PMID 9915936  0.44
1999 Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, ... Beaudet AL, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Human Molecular Genetics. 8: 129-35. PMID 9887341 DOI: 10.1093/hmg/8.1.129  0.44
1999 Beaudet AL. Making genomic medicine a reality American Journal of Human Genetics. 64: 1-13. DOI: 10.1086/302217  0.44
1998 Morral N, Parks RJ, Zhou H, Langston C, Schiedner G, Quinones J, Graham FL, Kochanek S, Beaudet AL. High doses of a helper-dependent adenoviral vector yield supraphysiological levels of alpha1-antitrypsin with negligible toxicity. Human Gene Therapy. 9: 2709-16. PMID 9874269 DOI: 10.1089/hum.1998.9.18-2709  0.44
1998 Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 21: 799-811. PMID 9808466 DOI: 10.1016/S0896-6273(00)80596-6  0.44
1998 Tsai TF, Raas-Rothschild A, Ben-Neriah Z, Beaudet AL. Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. American Journal of Human Genetics. 63: 1561-3. PMID 9792887 DOI: 10.1086/302120  0.44
1998 Jung U, Norman KE, Scharffetter-Kochanek K, Beaudet AL, Ley K. Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo. The Journal of Clinical Investigation. 102: 1526-33. PMID 9788965 DOI: 10.1172/JCI119893  0.44
1998 Mizgerd JP, Quinlan WM, LeBlanc BW, Kutkoski GJ, Bullard DC, Beaudet AL, Doerschuk CM. Combinatorial requirements for adhesion molecules in mediating neutrophil emigration during bacterial peritonitis in mice. Journal of Leukocyte Biology. 64: 291-7. PMID 9738654  0.44
1998 O'Neal WK, Zhou H, Morral N, Aguilar-Cordova E, Pestaner J, Langston C, Mull B, Wang Y, Beaudet AL, Lee B. Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery. Human Gene Therapy. 9: 1587-98. PMID 9694157 DOI: 10.1089/hum.1998.9.11-1587  0.44
1998 Jiang Y, Tsai TF, Bressler J, Beaudet AL. Imprinting in Angelman and Prader-Willi syndromes. Current Opinion in Genetics & Development. 8: 334-42. PMID 9691003 DOI: 10.1016/S0959-437X(98)80091-9  0.44
1998 Patejunas G, Lee B, Dennis JA, Healy PJ, Reeds PJ, Yu H, Frazer M, Mull B, Warman AW, Beaudet AL, O'Brien WE. Evaluation of gene therapy for citrullinaemia using murine and bovine models. Journal of Inherited Metabolic Disease. 21: 138-50. PMID 9686351 DOI: 10.1023/A:1005322010854  0.44
1998 Scharffetter-Kochanek K, Lu H, Norman K, van Nood N, Munoz F, Grabbe S, McArthur M, Lorenzo I, Kaplan S, Ley K, Smith CW, Montgomery CA, Rich S, Beaudet AL. Spontaneous skin ulceration and defective T cell function in CD18 null mice. The Journal of Experimental Medicine. 188: 119-31. PMID 9653089 DOI: 10.1084/jem.188.1.119  0.44
1998 Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Research. 8: 146-57. PMID 9477342  0.44
1998 Schiedner G, Morral N, Parks RJ, Wu Y, Koopmans SC, Langston C, Graham FL, Beaudet AL, Kochanek S. Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity. Nature Genetics. 18: 180-3. PMID 9462752 DOI: 10.1038/ng0298-180  0.44
1998 Antonarakis SE, Ashburner M, Auerbach AD, Beaudet AL, Beckmann JS, Beutler E, Cooper DN, Cotton RGH, Den Dunnen JT, Desnick RJ, Eng C, Fasman KH, Goldman D, Hayashi K, Hutchinson F, et al. Recommendations for a nomenclature system for human gene mutations Human Mutation. 11: 1-3.  0.44
1998 Mizgerd JP, Horwitz BH, Bhagwan SD, Scott ML, Beaudet AL, Doerschuk CM. Compromised emigration of CD18-deficient neutrophils during LPS pneumonia in bone marrow chimera mice Faseb Journal. 12: A952.  0.44
1998 Jung U, Norman KE, Ramos CL, Collins R, Beaudet AL, Ley K. The role of CD18 and E-selectin in leukocyte recruitment in response to TNF-α Faseb Journal. 12: A776.  0.44
1997 Orr-Urtreger A, Göldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL. Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 9165-71. PMID 9364063  0.44
1997 Munoz FM, Hawkins EP, Bullard DC, Beaudet AL, Kaplan SL. Host defense against systemic infection with Streptococcus pneumoniae is impaired in E-, P-, and E-/P-selectin-deficient mice. The Journal of Clinical Investigation. 100: 2099-106. PMID 9329976 DOI: 10.1172/JCI119744  0.44
1997 Nageh MF, Sandberg ET, Marotti KR, Lin AH, Melchior EP, Bullard DC, Beaudet AL. Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice. Arteriosclerosis, Thrombosis, and Vascular Biology. 17: 1517-20. PMID 9301629  0.44
1997 Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genetics. 17: 75-8. PMID 9288101 DOI: 10.1038/ng0997-75  0.44
1997 Bullard DC, King PD, Hicks MJ, Dupont B, Beaudet AL, Elkon KB. Intercellular adhesion molecule-1 deficiency protects MRL/MpJ-Fas(lpr) mice from early lethality. Journal of Immunology (Baltimore, Md. : 1950). 159: 2058-67. PMID 9257874  0.44
1997 Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Research. 7: 642-8. PMID 9199937 DOI: 10.1101/gr.7.6.642  0.44
1997 Wong J, Johnston B, Lee SS, Bullard DC, Smith CW, Beaudet AL, Kubes P. A minimal role for selectins in the recruitment of leukocytes into the inflamed liver microvasculature. The Journal of Clinical Investigation. 99: 2782-90. PMID 9169509 DOI: 10.1172/JCI119468  0.44
1997 Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Research. 7: 368-77. PMID 9110176  0.44
1997 Kanwar S, Bullard DC, Hickey MJ, Smith CW, Beaudet AL, Wolitzky BA, Kubes P. The association between alpha4-integrin, P-selectin, and E-selectin in an allergic model of inflammation. The Journal of Experimental Medicine. 185: 1077-87. PMID 9091581 DOI: 10.1084/jem.185.6.1077  0.44
1997 Lu H, Smith CW, Perrard J, Bullard D, Tang L, Shappell SB, Entman ML, Beaudet AL, Ballantyne CM. LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice. The Journal of Clinical Investigation. 99: 1340-50. PMID 9077544 DOI: 10.1172/JCI119293  0.4
1997 Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics. 15: 74-7. PMID 8988172 DOI: 10.1038/ng0197-74  0.44
1996 Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. American Journal of Medical Genetics. 66: 77-80. PMID 8957518 DOI: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N  0.44
1996 Qin L, Quinlan WM, Doyle NA, Graham L, Sligh JE, Takei F, Beaudet AL, Doerschuk CM. The roles of CD11/CD18 and ICAM-1 in acute Pseudomonas aeruginosa-induced pneumonia in mice. Journal of Immunology (Baltimore, Md. : 1950). 157: 5016-21. PMID 8943409  0.44
1996 Doerschuk CM, Quinlan WM, Doyle NA, Bullard DC, Vestweber D, Jones ML, Takei F, Ward PA, Beaudet AL. The role of P-selectin and ICAM-1 in acute lung injury as determined using blocking antibodies and mutant mice. Journal of Immunology (Baltimore, Md. : 1950). 157: 4609-14. PMID 8906840  0.44
1996 Staite ND, Justen JM, Sly LM, Beaudet AL, Bullard DC. Inhibition of delayed-type contact hypersensitivity in mice deficient in both E-selectin and P-selectin. Blood. 88: 2973-9. PMID 8874194  0.44
1996 Lindberg FP, Bullard DC, Caver TE, Gresham HD, Beaudet AL, Brown EJ. Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice. Science (New York, N.Y.). 274: 795-8. PMID 8864123 DOI: 10.1126/science.274.5288.795  0.44
1996 Nakao M, Sutcliffe JS, Beaudet AL. Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms. Human Mutation. 7: 144-8. PMID 8829631 DOI: 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C  0.44
1996 Bullard DC, Hurley LA, Lorenzo I, Sly LM, Beaudet AL, Staite ND. Reduced susceptibility to collagen-induced arthritis in mice deficient in intercellular adhesion molecule-1. Journal of Immunology (Baltimore, Md. : 1950). 157: 3153-8. PMID 8816427  0.44
1996 Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Angelman syndrome in an inbred family. Human Genetics. 97: 294-8. PMID 8786067 DOI: 10.1007/BF02185757  0.44
1996 Mizgerd JP, Meek BB, Kutkoski GJ, Bullard DC, Beaudet AL, Doerschuk CM. Selectins and neutrophil traffic: margination and Streptococcus pneumoniae-induced emigration in murine lungs. The Journal of Experimental Medicine. 184: 639-45. PMID 8760817  0.44
1996 Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ. Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. American Journal of Medical Genetics. 63: 414-5. PMID 8725798 DOI: 10.1002/ajmg.1320630206  0.44
1996 Bullard DC, Scharffetter-Kochanek K, McArthur MJ, Chosay JG, McBride ME, Montgomery CA, Beaudet AL. A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice. Proceedings of the National Academy of Sciences of the United States of America. 93: 2116-21. PMID 8700894 DOI: 10.1073/pnas.93.5.2116  0.44
1996 Bullard DC, Kunkel EJ, Kubo H, Hicks MJ, Lorenzo I, Doyle NA, Doerschuk CM, Ley K, Beaudet AL. Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice. The Journal of Experimental Medicine. 183: 2329-36. PMID 8642341 DOI: 10.1084/jem.183.5.2329  0.44
1996 Kumasaka T, Quinlan WM, Doyle NA, Condon TP, Sligh J, Takei F, Beaudet Al, Bennett CF, Doerschuk CM. Role of the intercellular adhesion molecule-1(ICAM-1) in endotoxin-induced pneumonia evaluated using ICAM-1 antisense oligonucleotides, anti-ICAM-1 monoclonal antibodies, and ICAM-1 mutant mice. The Journal of Clinical Investigation. 97: 2362-9. PMID 8636417 DOI: 10.1172/JCI118679  0.44
1996 Kunkel EJ, Jung U, Bullard DC, Norman KE, Wolitzky BA, Vestweber D, Beaudet AL, Ley K. Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1. The Journal of Experimental Medicine. 183: 57-65. PMID 8551244 DOI: 10.1084/jem.183.1.57  0.44
1995 Orr-Urtreger A, Seldin MF, Baldini A, Beaudet AL. Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor. Genomics. 26: 399-402. PMID 7601470 DOI: 10.1016/0888-7543(95)80228-E  0.44
1995 Katkin JP, Gilbert BE, Langston C, French K, Beaudet AL. Aerosol delivery of a beta-galactosidase adenoviral vector to the lungs of rodents. Human Gene Therapy. 6: 985-95. PMID 7578420 DOI: 10.1089/hum.1995.6.8-985  0.44
1995 Bullard DC, Sandberg ET, Scharffetter-Kochanek K, Beaudet AL. Gene targeting for inflammatory cell adhesion molecules. Agents and Actions. Supplements. 47: 143-54. PMID 7540354  0.44
1995 Bullard DC, Qin L, Lorenzo I, Quinlin WM, Doyle NA, Bosse R, Vestweber D, Doerschuk CM, Beaudet AL. P-selectin/ICAM-1 double mutant mice: acute emigration of neutrophils into the peritoneum is completely absent but is normal into pulmonary alveoli. The Journal of Clinical Investigation. 95: 1782-8. PMID 7535798 DOI: 10.1172/JCI117856  0.44
1995 Hasty P, O'Neal WK, Liu KQ, Morris AP, Bebok Z, Shumyatsky GB, Jilling T, Sorscher EJ, Bradley A, Beaudet AL. Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene. Somatic Cell and Molecular Genetics. 21: 177-87. PMID 7482032 DOI: 10.1007/BF02254769  0.44
1994 DeMarchi JM, Beaudet AL, Caskey CT, Richards CS. Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations. Archives of Pathology & Laboratory Medicine. 118: 26-32. PMID 8285831  0.44
1994 Patejunas G, Bradley A, Beaudet AL, O'Brien WE. Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. Somatic Cell and Molecular Genetics. 20: 55-60. PMID 8197477  0.4
1994 Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Human Molecular Genetics. 3: 309-15. PMID 8004100 DOI: 10.1093/hmg/3.2.309  0.44
1994 Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 8: 52-8. PMID 7987392 DOI: 10.1038/ng0994-52  0.44
1994 DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Human Mutation. 4: 281-90. PMID 7866408 DOI: 10.1002/humu.1380040409  0.32
1994 Vora DK, Rosenbloom CL, Beaudet AL, Cottingham RW. Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster. Genomics. 21: 473-7. PMID 7525451 DOI: 10.1006/geno.1994.1303  0.44
1993 Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 4: 221-6. PMID 8358429 DOI: 10.1038/ng0793-221  0.44
1993 Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 18: 546-52. PMID 8307564  0.44
1993 Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T. A search for the primary abnormality in adult-onset type II citrullinemia. American Journal of Human Genetics. 53: 1024-30. PMID 8105687  0.4
1993 Sligh JE, Ballantyne CM, Rich SS, Hawkins HK, Smith CW, Bradley A, Beaudet AL. Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1. Proceedings of the National Academy of Sciences of the United States of America. 90: 8529-33. PMID 8104338  0.4
1993 Wilson RW, Ballantyne CM, Smith CW, Montgomery C, Bradley A, O'Brien WE, Beaudet AL. Gene targeting yields a CD18-mutant mouse for study of inflammation. Journal of Immunology (Baltimore, Md. : 1950). 151: 1571-8. PMID 8101543  0.4
1993 O'Neal WK, Hasty P, McCray PB, Casey B, Rivera-Pérez J, Welsh MJ, Beaudet AL, Bradley A. A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Human Molecular Genetics. 2: 1561-9. PMID 7505691 DOI: 10.1093/hmg/2.10.1561  0.44
1992 Beaudet AL, O'Brien WE. Advantages of a two-step laboratory approach for cystic fibrosis carrier screening. American Journal of Human Genetics. 50: 439-40. PMID 1734724  0.4
1992 Demarquoy J, Herman GE, Lorenzo I, Trentin J, Beaudet AL, O'Brien WE. Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells. Human Gene Therapy. 3: 3-10. PMID 1562637 DOI: 10.1089/hum.1992.3.1-3  0.4
1992 Sanders WE, Wilson RW, Ballantyne CM, Beaudet AL. Molecular cloning and analysis of in vivo expression of murine P-selectin. Blood. 80: 795-800. PMID 1379089  0.4
1992 Ballantyne CM, Sligh JE, Dai XY, Beaudet AL. Characterization of the murine Icam-1 gene. Genomics. 14: 1076-80. PMID 1362180  0.4
1992 Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 14: 813-5. PMID 1294119  0.6
1991 Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 9: 278-82. PMID 2004777  0.6
1991 Beaudet AL, Feldman GL, Kobayashi K, Lemna WK, Fernbach SD, Knowles MR, Boucher RC, O'Brien WE. Mutation analysis for cystic fibrosis in a North American population. Advances in Experimental Medicine and Biology. 290: 53-4. PMID 1950757  0.4
1991 Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE. Additional mutations in argininosuccinate synthetase causing citrullinemia. Molecular Biology & Medicine. 8: 95-100. PMID 1943692  0.4
1991 Kwiatkowski TJ, Beaudet AL, Trask BJ, Zoghbi HY. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 10: 921-6. PMID 1916824  0.6
1991 Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL. Methods for analysis of multiple cystic fibrosis mutations. Human Genetics. 87: 613-7. PMID 1916764 DOI: 10.1007/BF00209023  0.44
1991 Yorifuji T, Lemna WK, Ballard CF, Rosenbloom CL, Rozmahel R, Plavsic N, Tsui LC, Beaudet AL. Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator. Genomics. 10: 547-50. PMID 1716243 DOI: 10.1016/0888-7543(91)90434-G  0.44
1991 Surh LC, Beaudet AL, O'Brien WE. Molecular characterization of the murine argininosuccinate synthetase locus. Gene. 99: 181-9. PMID 1708740  0.4
1991 Ballantyne CM, Kozak CA, O'Brien WE, Beaudet AL. Assignment of the gene for intercellular adhesion molecule-1 (Icam-1) to proximal mouse chromosome 9. Genomics. 9: 547-50. PMID 1674500  0.4
1990 Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. The Journal of Biological Chemistry. 265: 11361-7. PMID 2358466  0.4
1990 Gibson KM, Lee CF, Kamali V, Johnston K, Beaudet AL, Craigen WJ, Powell BR, Schwartz R, Tsai MY, Tuchman M. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clinical Chemistry. 36: 297-303. PMID 2302772  0.44
1990 Caskey CT, Kaback MM, Beaudet AL. The American Society of Human Genetics statement on cystic fibrosis screening. American Journal of Human Genetics. 46: 393. PMID 2301404  0.48
1990 Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. The New England Journal of Medicine. 322: 291-6. PMID 2296270 DOI: 10.1056/NEJM199002013220503  0.4
1990 Fujimura FK, Northrup H, Beaudet AL, O'Brien WE. Genotyping errors with the polymerase chain reaction. The New England Journal of Medicine. 322: 61. PMID 2294422 DOI: 10.1056/NEJM199001043220117  0.44
1990 Northrup H, Beaudet AL, O'Brien WE. Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis. Prenatal Diagnosis. 10: 771-9. PMID 2075179 DOI: 10.1002/pd.1970101203  0.44
1990 Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL. Benign missense variations in the cystic fibrosis gene. American Journal of Human Genetics. 47: 611-5. PMID 1977306  0.4
1990 Jackson MJ, Surh LC, O'Brien WE, Beaudet AL. Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2. Genomics. 6: 545-7. PMID 1970331  0.4
1990 Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ, Ledbetter SA, Beaudet AL. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics. 6: 352-7. PMID 1968423  0.6
1989 Beaudet AL, Feldman GL, Fernbach SD, Buffone GJ, O'Brien WE. Linkage disequilibrium, cystic fibrosis, and genetic counseling. American Journal of Human Genetics. 44: 319-26. PMID 2916578  0.4
1989 Dennis JA, Healy PJ, Beaudet AL, O'Brien WE. Molecular definition of bovine argininosuccinate synthetase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 86: 7947-51. PMID 2813370  0.4
1989 Ballantyne CM, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA for murine intercellular adhesion molecule-1 (ICAM-1). Nucleic Acids Research. 17: 5853. PMID 2762164  0.4
1989 Herman GE, Jaskoski B, Wood PA, Trentin JJ, O'Brien WE, Beaudet AL. Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo. Somatic Cell and Molecular Genetics. 15: 289-96. PMID 2669167  0.4
1989 Jackson MJ, Kobayashi K, Beaudet AL, O'Brien WE. Analysis of deletions at the human argininosuccinate synthetase locus. Molecular Biology & Medicine. 6: 179-86. PMID 2615645  0.4
1989 Northrup H, Lathrop M, Lu SY, Daiger SP, Beaudet AL, O'Brien WE. Multilocus linkage analysis with the human argininosuccinate synthetase gene. Genomics. 5: 442-4. PMID 2575581 DOI: 10.1016/0888-7543(89)90007-4  0.44
1989 Rosenbloom CL, Kerem BS, Rommens JM, Tsui LC, Wainwright B, Williamson R, O'Brien WE, Beaudet AL. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucleic Acids Research. 17: 7117. PMID 2571129  0.4
1989 Feldman GL, Lewiston N, Fernbach SD, O'Brien WE, Williamson R, Wainwright BJ, Beaudet AL. Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk. American Journal of Medical Genetics. 33: 238-41. PMID 2569827 DOI: 10.1002/ajmg.1320330219  0.44
1989 Wilson RW, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA from the mouse leukocyte adhesion protein CD18. Nucleic Acids Research. 17: 5397. PMID 2569711  0.4
1989 Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudet AL. Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency. The Journal of Pediatrics. 114: 582-8. PMID 2564432  0.4
1989 Northrup H, Rosenbloom C, O'Brien WE, Beaudet AL. Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification. Nucleic Acids Research. 17: 1784. PMID 2564190 DOI: 10.1093/nar/17.4.1784  0.44
1989 Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. American Journal of Human Genetics. 44: 255-63. PMID 2563195  0.6
1988 Beaudet AL, Spence JE, Montes M, O'Brien WE, Estivill X, Farrall M, Williamson R. Experience with new DNA markers for the diagnosis of cystic fibrosis. The New England Journal of Medicine. 318: 50-1. PMID 3422103 DOI: 10.1056/NEJM198801073180114  0.4
1988 Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Le Beau MM, Beaudet AL, Gray JW, Sekhon G, Krassikoff N. Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. American Journal of Medical Genetics. 31: 643-54. PMID 3228143 DOI: 10.1002/ajmg.1320310320  0.44
1988 Jackson MJ, Allen SJ, Beaudet AL, O'Brien WE. Metabolite regulation of argininosuccinate synthetase in cultured human cells. The Journal of Biological Chemistry. 263: 16388-94. PMID 3182797  0.4
1988 Surh LC, Morris SM, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase. Nucleic Acids Research. 16: 9352. PMID 3174461 DOI: 10.1093/nar/16.19.9352  0.44
1988 Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Annals of Neurology. 23: 580-4. PMID 3165612 DOI: 10.1002/ana.410230609  0.44
1988 Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 2: 102. PMID 2898670  0.4
1988 Buffone GJ, Spence JE, Fernbach SD, Curry MR, O'Brien WE, Beaudet AL. Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. Clinical Chemistry. 34: 933-7. PMID 2897257  0.4
1988 Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL. Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. American Journal of Human Genetics. 42: 877-83. PMID 2897163  0.6
1988 Ballantyne CM, Zoghbi HY, Grzeschik KH, O'Brien WE, Beaudet AL. A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. Nucleic Acids Research. 16: 1650. PMID 2894640  0.6
1988 Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics. 42: 217-26. PMID 2893543  0.44
1987 Meisler MH, Spence JE, Dixon JE, Caldwell RM, Minth CD, Beaudet AL. Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7. Cytogenetics and Cell Genetics. 44: 175-6. PMID 3568765 DOI: 10.1159/000132367  0.44
1987 Spence JE, Buffone GJ, Rosenbloom CL, Fernbach SD, Curry MR, Carpenter RJ, Ledbetter DH, O'Brien WE, Beaudet AL. Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis. Human Genetics. 76: 5-10. PMID 3471704  0.4
1987 Berchtold MW, Epstein P, Beaudet AL, Payne ME, Heizmann CW, Means AR. Structural organization and chromosomal assignment of the parvalbumin gene. The Journal of Biological Chemistry. 262: 8696-701. PMID 3036821  0.44
1986 Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Annals of Neurology. 20: 367-9. PMID 3767322 DOI: 10.1002/ana.410200318  0.6
1986 Herman GE, O'Brien WE, Beaudet AL. An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression. Nucleic Acids Research. 14: 7130. PMID 3093988  0.4
1986 Wood PA, Partridge CA, O'Brien WE, Beaudet AL. Expression of human argininosuccinate synthetase after retroviral-mediated gene transfer. Somatic Cell and Molecular Genetics. 12: 493-500. PMID 3020714  0.4
1986 Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL. Linkage of DNA markers to cystic fibrosis in 26 families. American Journal of Human Genetics. 39: 729-34. PMID 2879439  0.44
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