Arthur L. Beaudet - Publications

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

143 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  0.317
2020 Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, et al. The Deep Genome Project. Genome Biology. 21: 18. PMID 32008577 DOI: 10.1186/S13059-020-1931-9  0.307
2019 Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst AC, ... ... Beaudet AL, et al. Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy. Human Mutation. PMID 31769566 DOI: 10.1002/Humu.23960  0.318
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  0.529
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  0.318
2019 Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, et al. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. American Journal of Human Genetics. PMID 30929737 DOI: 10.1016/J.Ajhg.2019.03.008  0.325
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  0.51
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  0.355
2018 Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL. Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis. Journal of Human Genetics. PMID 30542208 DOI: 10.1038/s10038-018-0543-7  0.34
2018 Lanza DG, Gaspero A, Lorenzo I, Liao L, Zheng P, Wang Y, Deng Y, Cheng C, Zhang C, Seavitt JR, DeMayo FJ, Xu J, Dickinson ME, Beaudet AL, Heaney JD. Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles. Bmc Biology. 16: 69. PMID 29925370 DOI: 10.1186/S12915-018-0529-0  0.328
2018 Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H, Hough T, ... ... Beaudet AL, et al. Identification of genetic elements in metabolism by high-throughput mouse phenotyping. Nature Communications. 9: 288. PMID 29348434 DOI: 10.1038/S41467-017-01995-2  0.318
2017 Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, ... ... Beaudet AL, et al. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications. 8: 886. PMID 29026089 DOI: 10.1038/S41467-017-00595-4  0.301
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  0.539
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  0.64
2017 Meehan TF, Conte N, West DB, Jacobsen JO, Mason J, Warren J, Chen CK, Tudose I, Relac M, Matthews P, Karp N, Santos L, Fiegel T, Ring N, Westerberg H, ... ... Beaudet AL, et al. Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nature Genetics. PMID 28650483 DOI: 10.1038/Ng.3901  0.348
2017 Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, et al. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. American Journal of Human Genetics. PMID 28602422 DOI: 10.1016/j.ajhg.2017.05.011  0.341
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  0.495
2017 Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, ... ... Beaudet AL, et al. Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. Journal of Autism and Developmental Disorders. PMID 28168676 DOI: 10.1007/s10803-017-3047-y  0.447
2016 Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, ... ... Beaudet AL, et al. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research. PMID 27980096 DOI: 10.1093/Nar/Gkw1237  0.35
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  0.34
2016 Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, ... ... Beaudet AL, et al. High-throughput discovery of novel developmental phenotypes. Nature. PMID 27626380 DOI: 10.1038/Nature19356  0.358
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: 10.1097/01.Ogx.0000511968.79993.Bf  0.316
2016 Bornstein E, Berger S, Cheung SW, Maliszewski KT, Patel A, Pursley AN, Lenchner E, Bacino C, Beaudet AL, Divon MY. Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype. American Journal of Perinatology. PMID 27533100 DOI: 10.1055/s-0036-1586501  0.305
2016 Normand E, Qdaisat S, Bi W, Shaw C, Van den Veyver I, Beaudet A, Breman A. Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenatal Diagnosis. PMID 27368744 DOI: 10.1002/Pd.4866  0.304
2016 Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, ... ... Beaudet A, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963284 DOI: 10.1038/gim.2016.9  0.569
2016 Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harbor Perspectives in Biology. 8. PMID 26834142 DOI: 10.1101/cshperspect.a019497  0.486
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  0.337
2016 Meng L, Ward AJ, Bennett CF, Beaudet A, Rigo F. Abstract IA28: Towards a therapy for Angelman syndrome by targeting a long noncoding RNA to active UBE3A Cancer Research. 76. DOI: 10.1158/1538-7445.Nonrna15-Ia28  0.326
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  0.317
2015 Beaudet AL, Meng L. Gene-targeting pharmaceuticals for single gene disorders. Human Molecular Genetics. PMID 26628634 DOI: 10.1093/hmg/ddv476  0.324
2015 Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Beaudet AL, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016  0.344
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  0.501
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  0.545
2015 Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature. 518: 409-12. PMID 25470045 DOI: 10.1038/nature13975  0.343
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  0.466
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  0.562
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  0.328
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  0.336
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  0.63
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  0.316
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  0.337
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  0.351
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  0.71
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  0.673
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  0.707
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  0.367
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  0.579
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  0.301
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  0.327
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  0.355
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  0.303
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: 10.1097/01.Ogx.0000429294.57890.B8  0.319
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  0.34
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  0.308
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  0.307
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  0.333
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  0.339
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  0.309
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  0.36
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  0.303
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  0.373
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  0.522
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  0.355
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  0.305
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  0.322
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  0.466
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  0.312
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  0.565
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  0.367
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  0.332
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  0.35
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  0.577
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  0.347
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  0.565
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  0.308
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  0.334
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  0.329
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  0.315
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  0.364
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  0.353
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  0.317
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  0.358
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  0.323
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  0.353
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  0.347
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  0.38
2007 Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. Plos One. 2: e327. PMID 17389918 DOI: 10.1371/Journal.Pone.0000327  0.329
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  0.708
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  0.35
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  0.342
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  0.331
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  0.345
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  0.334
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  0.323
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  0.324
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  0.351
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  0.3
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  0.311
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 DOI: 10.1093/Hmg/11.14.1659  0.352
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  0.363
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  0.488
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  0.308
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 DOI: 10.1101/Gr.8.2.146  0.331
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  0.318
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  0.361
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  0.306
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 DOI: 10.1101/Gr.7.4.368  0.364
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  0.365
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  0.333
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  0.32
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  0.333
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  0.354
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  0.317
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  0.307
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  0.319
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  0.42
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 DOI: 10.1007/Bf02257486  0.328
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  0.346
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  0.335
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  0.521
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  0.309
1992 Ballantyne CM, Sligh JE, Dai XY, Beaudet AL. Characterization of the murine Icam-1 gene. Genomics. 14: 1076-80. PMID 1362180 DOI: 10.1016/S0888-7543(05)80132-6  0.321
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 DOI: 10.1016/S0888-7543(05)80196-X  0.507
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 DOI: 10.1016/0888-7543(91)90253-B  0.52
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 DOI: 10.1016/0888-7543(91)90180-M  0.505
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  0.303
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  0.42
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  0.329
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 DOI: 10.1016/0888-7543(90)90576-G  0.443
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  0.329
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  0.414
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  0.496
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  0.444
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 DOI: 10.1093/Nar/16.4.1650  0.489
1988 Zoghbi H, Sandkuyl L, Ott J, Daiger S, Pollack M, O'Brien W, Beaudet A. Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis Human Immunology. 23: 161. DOI: 10.1016/0198-8859(88)90297-2  0.416
1987 Ledley FD, Darlington G, Hahn T, Woo SLC, Beaudet A. Gene Transfer Into Primary Hepatocytes For Somatic Gene Therapy Pediatric Research. 21: 291-291. DOI: 10.1203/00006450-198704010-00745  0.308
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  0.46
1978 Beaudet AL, Caskey CT. Detection of Fabry's disease heterozygotes by hair root analysis. Clinical Genetics. 13: 251-8. PMID 205381 DOI: 10.1111/j.1399-0004.1978.tb01178.x  0.486
1974 Caskey CT, Beaudet AL, Tate WP. Mammalian release factor; in vitro assay and purification. Methods in Enzymology. 30: 293-303. PMID 4604721 DOI: 10.1016/0076-6879(74)30032-8  0.42
1973 Tate WP, Beaudet AL, Caskey CT. Influence of guanine nucleotides and elongation factors on interaction of release factors with the ribosome. Proceedings of the National Academy of Sciences of the United States of America. 70: 2350-5. PMID 4525170  0.42
1972 Caskey CT, Beaudet AL, Scolnick EM, Rosman M. Hydrolysis of fMet-tRNA by peptidyl transferase. Proceedings of the National Academy of Sciences of the United States of America. 68: 3163-7. PMID 4943558 DOI: 10.1073/PNAS.68.12.3163  0.42
1971 Beaudet AL, Caskey CT. Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor. Proceedings of the National Academy of Sciences of the United States of America. 68: 619-24. PMID 5276771 DOI: 10.1073/PNAS.68.3.619  0.486
1970 Goldstein JL, Beaudet AL, Caskey CT. Peptide chain termination with mammalian release factor. Proceedings of the National Academy of Sciences of the United States of America. 67: 99-106. PMID 4917818 DOI: 10.1073/PNAS.67.1.99  0.504
Show low-probability matches.