| Year |
Citation |
Score |
| 2023 |
Lee D, Chen W, Kaku HN, Zhuo X, Chao ES, Soriano A, Kuncheria A, Flores S, Kim JH, Rivera A, Rigo F, Jafar-Nejad P, Beaudet AL, Caudill MS, Xue M. Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome. Elife. 12. PMID 36594817 DOI: 10.7554/eLife.81892 |
0.633 |
|
| 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 |
0.326 |
|
| 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 |
0.309 |
|
| 2019 |
Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, ... ... Beaudet AL, et al. Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. American Journal of Human Genetics. PMID 31785788 DOI: 10.1016/J.Ajhg.2019.11.004 |
0.311 |
|
| 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 |
0.327 |
|
| 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 |
0.518 |
|
| 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 |
0.324 |
|
| 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 |
0.335 |
|
| 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 |
0.489 |
|
| 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 |
0.375 |
|
| 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 |
0.347 |
|
| 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 |
0.338 |
|
| 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 |
0.325 |
|
| 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 |
0.306 |
|
| 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 |
0.528 |
|
| 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 |
0.641 |
|
| 2017 |
Beaudet AL. Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. PMID 28703319 DOI: 10.1002/bies.201700012 |
0.315 |
|
| 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 |
0.364 |
|
| 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 |
0.356 |
|
| 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 |
0.483 |
|
| 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 |
0.42 |
|
| 2017 |
Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, ... ... Beaudet AL, et al. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to Data Sharing of whole exome sequencing data. Clinical Genetics. PMID 28155230 DOI: 10.1111/cge.12985 |
0.349 |
|
| 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 |
0.362 |
|
| 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 |
0.353 |
|
| 2016 |
Beaudet AL. Darwin Comes to Clinic. Trends in Genetics : Tig. PMID 27908673 DOI: 10.1016/j.tig.2016.11.005 |
0.305 |
|
| 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 |
0.376 |
|
| 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 |
0.323 |
|
| 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 |
0.309 |
|
| 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 |
Beaudet AL. Using fetal cells for prenatal diagnosis: History and recent progress. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 27133782 DOI: 10.1002/ajmg.c.31487 |
0.347 |
|
| 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 |
0.558 |
|
| 2016 |
Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harbor Perspectives in Biology. 8. PMID 26834142 DOI: 10.1101/cshperspect.a019497 |
0.487 |
|
| 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 |
0.344 |
|
| 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 |
0.344 |
|
| 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 |
0.328 |
|
| 2015 |
Beaudet AL, Meng L. Gene-targeting pharmaceuticals for single gene disorders. Human Molecular Genetics. PMID 26628634 DOI: 10.1093/hmg/ddv476 |
0.334 |
|
| 2015 |
Beaudet AL. Preimplantation genetic screens. Science (New York, N.Y.). 349: 1423. PMID 26404799 DOI: 10.1126/science.aad4803 |
0.369 |
|
| 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 |
0.347 |
|
| 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 |
0.483 |
|
| 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 |
0.307 |
|
| 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 |
0.538 |
|
| 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 |
0.303 |
|
| 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 |
0.362 |
|
| 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 |
0.421 |
|
| 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 |
0.555 |
|
| 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 |
0.33 |
|
| 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 |
0.352 |
|
| 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 |
0.621 |
|
| 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 |
0.321 |
|
| 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 |
0.351 |
|
| 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 |
0.37 |
|
| 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 |
0.711 |
|
| 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 |
0.674 |
|
| 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 |
0.385 |
|
| 2013 |
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, RodrÃguez 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 |
0.573 |
|
| 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 |
0.308 |
|
| 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 |
0.349 |
|
| 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 |
0.323 |
|
| 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 |
0.363 |
|
| 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 |
0.321 |
|
| 2012 |
Beaudet AL. Neuroscience. Preventable forms of autism? Science (New York, N.Y.). 338: 342-3. PMID 23087240 DOI: 10.1126/science.1229178 |
0.325 |
|
| 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 |
0.302 |
|
| 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 |
0.353 |
|
| 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 |
0.314 |
|
| 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 |
0.313 |
|
| 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 |
0.343 |
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| 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 |
0.34 |
|
| 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 |
0.313 |
|
| 2012 |
Beaudet AL. Angelman syndrome: Drugs to awaken a paternal gene. Nature. 481: 150-2. PMID 22190038 DOI: 10.1038/nature10784 |
0.329 |
|
| 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 |
0.368 |
|
| 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 |
0.308 |
|
| 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 |
0.395 |
|
| 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 |
0.562 |
|
| 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 |
0.361 |
|
| 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 |
0.301 |
|
| 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 |
0.328 |
|
| 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 |
0.426 |
|
| 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 |
0.316 |
|
| 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 |
0.56 |
|
| 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 |
0.382 |
|
| 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 |
0.337 |
|
| 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 |
0.303 |
|
| 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 |
0.367 |
|
| 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 |
0.571 |
|
| 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 |
0.352 |
|
| 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 |
0.554 |
|
| 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 |
0.306 |
|
| 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 |
0.346 |
|
| 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 |
0.339 |
|
| 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 |
0.311 |
|
| 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 |
0.379 |
|
| 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 |
0.36 |
|
| 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 |
0.348 |
|
| 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 |
0.315 |
|
| 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 |
0.364 |
|
| 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/annurev.med.59.012907.101800 |
0.324 |
|
| 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 |
0.331 |
|
| 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 |
0.359 |
|
| 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 |
0.356 |
|
| 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 |
0.393 |
|
| 2007 |
Beaudet AL. Autism: highly heritable but not inherited. Nature Medicine. 13: 534-6. PMID 17479094 DOI: 10.1038/nm0507-534 |
0.328 |
|
| 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 |
0.331 |
|
| 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 |
0.328 |
|
| 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 |
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 |
0.323 |
|
| 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 |
0.353 |
|
| 2006 |
Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Current Opinion in Obstetrics & Gynecology. 18: 185-91. PMID 16601480 DOI: 10.1097/01.gco.0000192986.22718.cc |
0.316 |
|
| 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 |
0.364 |
|
| 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 |
0.358 |
|
| 2006 |
Dimmock D, Brunetti-Pierri N, Mane V, Palmer D, Beaudet A, Ng P. 213. Improving the Therapeutic Index of Helper-Dependent Adenoviral Vector for Crigler-Najjar Gene Therapy Molecular Therapy. 13: S82. DOI: 10.1016/j.ymthe.2006.08.238 |
0.305 |
|
| 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 |
0.34 |
|
| 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 |
|
| 2005 |
Mane VP, Toietta G, Norona W, Finegold M, Ng P, Beaudet AL, McDonagh AF, Lee B. 535. Long-Term Correction of Hyperbilirubinemia in a Rat Model of Crigler-Najjar Syndrome Type 1 Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.075 |
0.304 |
|
| 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 |
0.361 |
|
| 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 |
0.346 |
|
| 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 |
0.345 |
|
| 2004 |
McCormack WM, Bertin TK, Ubhayakar K, Guenther M, Mane VP, Ng P, Nichols TC, Finegold MJ, Palmer D, Beaudet A, Lee BH. 159. Vector genome loss does not account for decline of plasma cFVIII protein in hemophilic dogs that demonstrate long term clinical correction following helper-dependent adenoviral gene therapy Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.119 |
0.314 |
|
| 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 |
0.335 |
|
| 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 |
0.357 |
|
| 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 |
0.316 |
|
| 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 |
0.325 |
|
| 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 DOI: 10.1093/Clinchem/48.11.1913 |
0.327 |
|
| 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 |
0.371 |
|
| 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 |
0.324 |
|
| 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 |
0.314 |
|
| 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 |
0.377 |
|
| 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 |
0.303 |
|
| 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 |
0.308 |
|
| 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 |
|
| 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 |
0.337 |
|
| 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 |
0.301 |
|
| 1999 |
Beaudet AL. 1998 ASHG presidential address. Making genomic medicine a reality. American Journal of Human Genetics. 64: 1-13. PMID 9915936 DOI: 10.1086/302217 |
0.309 |
|
| 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 |
0.322 |
|
| 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 |
0.303 |
|
| 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 |
0.314 |
|
| 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 |
0.329 |
|
| 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 |
0.335 |
|
| 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 |
0.383 |
|
| 1997 |
Ligon AH, Beaudet AL, Shaffer LG. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. American Journal of Human Genetics. 61: 51-9. PMID 9245984 DOI: 10.1086/513904 |
0.331 |
|
| 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 |
0.308 |
|
| 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 |
0.385 |
|
| 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 |
0.384 |
|
| 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 |
0.343 |
|
| 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 |
0.338 |
|
| 1996 |
Zhou H, O'Neal W, Morral N, Beaudet AL. Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted. Journal of Virology. 70: 7030-8. PMID 8794347 DOI: 10.1128/Jvi.70.10.7030-7038.1996 |
0.328 |
|
| 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 |
0.332 |
|
| 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 |
0.362 |
|
| 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 |
0.325 |
|
| 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 |
0.306 |
|
| 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 |
0.333 |
|
| 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 |
0.451 |
|
| 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 |
0.347 |
|
| 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 |
0.367 |
|
| 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 |
0.342 |
|
| 1994 |
O'Neal WK, Beaudet AL. Somatic gene therapy for cystic fibrosis. Human Molecular Genetics. 3: 1497-502. PMID 7849744 DOI: 10.1093/Hmg/3.Suppl_1.1497 |
0.303 |
|
| 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 |
0.32 |
|
| 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 |
0.525 |
|
| 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 DOI: 10.1073/Pnas.90.18.8529 |
0.302 |
|
| 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 |
0.324 |
|
| 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 |
0.332 |
|
| 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 |
0.506 |
|
| 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 |
0.521 |
|
| 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 |
0.31 |
|
| 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 |
0.387 |
|
| 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 |
0.337 |
|
| 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 DOI: 10.1016/0888-7543(90)90484-C |
0.309 |
|
| 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 |
0.439 |
|
| 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 DOI: 10.1073/Pnas.86.20.7947 |
0.324 |
|
| 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 DOI: 10.1007/Bf01534968 |
0.303 |
|
| 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 |
0.331 |
|
| 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 DOI: 10.1016/S0022-3476(89)80697-3 |
0.305 |
|
| 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 |
0.407 |
|
| 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 |
0.494 |
|
| 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 |
0.45 |
|
| 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 |
0.486 |
|
| 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 |
0.407 |
|
| 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 |
0.32 |
|
| 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 |
0.453 |
|
| 1985 |
Freytag SO, Beaudet AL, Bock HG, O'Brien WE. Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing. Molecular and Cellular Biology. 4: 1978-84. PMID 6095035 DOI: 10.1128/MCB.4.10.1978 |
0.322 |
|
| 1984 |
Su TS, O'Brien WE, Beaudet AL. Genomic DNA-mediated gene transfer for argininosuccinate synthetase. Somatic Cell and Molecular Genetics. 10: 601-606. PMID 6594768 DOI: 10.1007/Bf01535225 |
0.323 |
|
| 1984 |
Beaudet AL, Freytag SO, Su T, O'Brien WE. TRANS-ACTING REGULATION AND ALTERNATIVE RNA SPLICING FOR THE ARGININOSUCCINATE SYNTHETASE (AS) LOCUS Pediatric Research. 18: 219A-219A. DOI: 10.1203/00006450-198404001-00758 |
0.309 |
|
| 1983 |
Su TS, Bock HG, Beaudet AL, O'Brien WE. Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. The Journal of Clinical Investigation. 70: 1334-9. PMID 7174798 DOI: 10.1172/JCI110736 |
0.356 |
|
| 1983 |
Su TS, Beaudet AL, O'Brien WE. Abnormal mRNA for argininosuccinate synthetase in citrullinaemia. Nature. 301: 533-4. PMID 6823333 DOI: 10.1038/301533A0 |
0.313 |
|
| 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 |
0.495 |
|
| 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 |
0.363 |
|
| 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 |
0.377 |
|
| 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 |
0.367 |
|
| 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 |
0.443 |
|
| 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 |
0.494 |
|
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