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 |
0.634 |
|
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 |
0.335 |
|
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 |
0.623 |
|
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 |
|
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 |
0.709 |
|
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 |
0.362 |
|
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 |
0.385 |
|
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 |
0.311 |
|
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 |
|
Low-probability matches (unlikely to be authored by this person) |
1986 |
Wood PA, Partridge CA, O'Brien WE, Beaudet AL. Expression of human argininosuccinate synthetase after retroviral-mediated gene transfer. Somatic Cell and Molecular Genetics. 12: 493-500. PMID 3020714 DOI: 10.1007/Bf01539920 |
0.299 |
|
2017 |
Beaudet AL. 2016 Curt Stern Award Introduction: Brendan Lee. American Journal of Human Genetics. 100: 395-396. PMID 28257686 DOI: 10.1016/j.ajhg.2017.01.007 |
0.299 |
|
1985 |
Matteson KJ, Ostrer H, Chakravarti A, Buetow KH, O'Brien WE, Beaudet AL, Phillips JA. A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus Human Genetics. 69: 263-267. PMID 2984106 DOI: 10.1007/Bf00293037 |
0.298 |
|
1991 |
Surh LC, Beaudet AL, O'Brien WE. Molecular characterization of the murine argininosuccinate synthetase locus. Gene. 99: 181-9. PMID 1708740 DOI: 10.1016/0378-1119(91)90125-U |
0.297 |
|
1986 |
Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS. The human argininosuccinate synthetase locus and citrullinemia. Advances in Human Genetics. 15: 161-96, 291-2. PMID 3513483 DOI: 10.1007/978-1-4615-8356-1_3 |
0.296 |
|
2005 |
Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B. Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proceedings of the National Academy of Sciences of the United States of America. 102: 3930-5. PMID 15753292 DOI: 10.1073/Pnas.0500930102 |
0.295 |
|
1994 |
DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Human Mutation. 4: 281-90. PMID 7866408 DOI: 10.1002/humu.1380040409 |
0.294 |
|
1996 |
Bullard DC, Kunkel EJ, Kubo H, Hicks MJ, Lorenzo I, Doyle NA, Doerschuk CM, Ley K, Beaudet AL. Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice. The Journal of Experimental Medicine. 183: 2329-36. PMID 8642341 DOI: 10.1084/jem.183.5.2329 |
0.294 |
|
1986 |
Jackson MJ, O'Brien WE, Beaudet AL. Arginine-mediated regulation of an argininosuccinate synthetase minigene in normal and canavanine-resistant human cells. Molecular and Cellular Biology. 6: 2257-61. PMID 3785195 DOI: 10.1128/MCB.6.6.2257 |
0.294 |
|
2005 |
Arredondo J, Chernyavsky AI, Marubio LM, Beaudet AL, Jolkovsky DL, Pinkerton KE, Grando SA. Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells. The American Journal of Pathology. 166: 597-613. PMID 15681842 DOI: 10.1016/S0002-9440(10)62281-X |
0.293 |
|
2009 |
Dindot SV, Person R, Strivens M, Garcia R, Beaudet AL. Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions. Genome Research. 19: 1374-83. PMID 19542493 DOI: 10.1101/Gr.089185.108 |
0.293 |
|
2004 |
Pastore L, Belalcazar LM, Oka K, Cela R, Lee B, Chan L, Beaudet AL. Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. Gene. 327: 153-60. PMID 14980712 DOI: 10.1016/J.Gene.2003.11.024 |
0.292 |
|
2000 |
O'Neal WK, Zhou H, Morral N, Langston C, Parks RJ, Graham FL, Kochanek S, Beaudet AL. Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector. Molecular Medicine (Cambridge, Mass.). 6: 179-95. PMID 10965494 DOI: 10.1007/Bf03402113 |
0.291 |
|
1998 |
O'Neal WK, Zhou H, Morral N, Aguilar-Cordova E, Pestaner J, Langston C, Mull B, Wang Y, Beaudet AL, Lee B. Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery. Human Gene Therapy. 9: 1587-98. PMID 9694157 DOI: 10.1089/Hum.1998.9.11-1587 |
0.291 |
|
2003 |
Belalcazar LM, Merched A, Carr B, Oka K, Chen KH, Pastore L, Beaudet A, Chan L. Long-term stable expression of human apolipoprotein A-I mediated by helper-dependent adenovirus gene transfer inhibits atherosclerosis progression and remodels atherosclerotic plaques in a mouse model of familial hypercholesterolemia. Circulation. 107: 2726-32. PMID 12742997 DOI: 10.1161/01.CIR.0000066913.69844.B2 |
0.291 |
|
2012 |
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenatal Diagnosis. 32: 351-61. PMID 22467166 DOI: 10.1002/Pd.3861 |
0.291 |
|
2008 |
Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenatal Diagnosis. 28: 943-9. PMID 18792925 DOI: 10.1002/pd.2087 |
0.29 |
|
1999 |
Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Human Molecular Genetics. 8: 1357-64. PMID 10400982 DOI: 10.1093/Hmg/8.8.1357 |
0.29 |
|
2015 |
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. Journal of Inherited Metabolic Disease. PMID 25875217 DOI: 10.1007/S10545-015-9843-7 |
0.29 |
|
2012 |
Brunetti-Pierri N, Liou A, Patel P, Palmer D, Grove N, Finegold M, Piccolo P, Donnachie E, Rice K, Beaudet A, Mullins C, Ng P. Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques. Molecular Therapy : the Journal of the American Society of Gene Therapy. 20: 1863-70. PMID 22828499 DOI: 10.1038/mt.2012.143 |
0.289 |
|
2014 |
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Beaudet AL, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Jama. 312: 1870-9. PMID 25326635 DOI: 10.1001/Jama.2014.14601 |
0.289 |
|
1999 |
Morral N, O'Neal W, Rice K, Leland M, Kaplan J, Piedra PA, Zhou H, Parks RJ, Velji R, Aguilar-Córdova E, Wadsworth S, Graham FL, Kochanek S, Carey KD, Beaudet AL. Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons. Proceedings of the National Academy of Sciences of the United States of America. 96: 12816-21. PMID 10536005 DOI: 10.1073/Pnas.96.22.12816 |
0.289 |
|
2003 |
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 23: 2634-44. PMID 12684449 DOI: 10.1523/Jneurosci.23-07-02634.2003 |
0.289 |
|
2005 |
Brunetti-Pierri N, Nichols TC, McCorquodale S, Merricks E, Palmer DJ, Beaudet AL, Ng P. Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector. Human Gene Therapy. 16: 811-20. PMID 16000063 DOI: 10.1089/hum.2005.16.811 |
0.288 |
|
2011 |
Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. Bmc Medical Genetics. 12: 154. PMID 22118685 DOI: 10.1186/1471-2350-12-154 |
0.287 |
|
2009 |
Bi W, Lu X, Shaw C, Patel A, Wiszniewska J, Eng C, Stankiewicz P, Lupski J, Cheung SW, Beaudet A, Van Den Veyver I. 708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance American Journal of Obstetrics and Gynecology. 201: S256-S257. DOI: 10.1016/J.Ajog.2009.10.725 |
0.286 |
|
2014 |
Beaudet AL. Reaching a CNV milestone. Nature Genetics. 46: 1046-8. PMID 25257083 DOI: 10.1038/ng.3106 |
0.286 |
|
2002 |
Toietta G, Pastore L, Cerullo V, Finegold M, Beaudet AL, Lee B. Generation of helper-dependent adenoviral vectors by homologous recombination. Molecular Therapy : the Journal of the American Society of Gene Therapy. 5: 204-10. PMID 11829528 DOI: 10.1006/Mthe.2002.0532 |
0.286 |
|
2016 |
Kølvraa S, Singh R, Normand EA, Qdaisat S, Van denVeyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenatal Diagnosis. PMID 27761919 DOI: 10.1002/Pd.4948 |
0.286 |
|
1995 |
Yang H, Vora DK, Targan SR, Toyoda H, Beaudet AL, Rotter JI. Intercellular adhesion molecule 1 gene associations with immunologic subsets of inflammatory bowel disease. Gastroenterology. 109: 440-8. PMID 7615193 DOI: 10.1016/0016-5085(95)90331-3 |
0.285 |
|
1997 |
Nageh MF, Sandberg ET, Marotti KR, Lin AH, Melchior EP, Bullard DC, Beaudet AL. Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice. Arteriosclerosis, Thrombosis, and Vascular Biology. 17: 1517-20. PMID 9301629 DOI: 10.1161/01.Atv.17.8.1517 |
0.285 |
|
1981 |
Bock H, Su T, O'Brien WE, Beaudet AL. 702 CLONING OF cDNA FOR HUMAN ARGININOSUCCINATE SYNTHETASE (ASS) mRNA AND STUDIES OF ENZYME OVERPRODUCTION Pediatric Research. 15: 559-559. DOI: 10.1203/00006450-198104001-00725 |
0.285 |
|
1992 |
Demarquoy J, Herman GE, Lorenzo I, Trentin J, Beaudet AL, O'Brien WE. Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells. Human Gene Therapy. 3: 3-10. PMID 1562637 DOI: 10.1089/hum.1992.3.1-3 |
0.285 |
|
1995 |
Fang P, Bouma S, Jou C, Gordon J, Beaudet AL. Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction. Human Mutation. 6: 144-51. PMID 7581398 DOI: 10.1002/humu.1380060207 |
0.285 |
|
1999 |
Xu W, Gelber S, Orr-Urtreger A, Armstrong D, Lewis RA, Ou CN, Patrick J, Role L, De Biasi M, Beaudet AL. Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. Proceedings of the National Academy of Sciences of the United States of America. 96: 5746-51. PMID 10318955 DOI: 10.1073/Pnas.96.10.5746 |
0.284 |
|
2007 |
Cheung SW, Shaw C, Kang S, Simovich M, Pursley A, Darilek S, Ward P, Chinault AC, Patel A, Lupski J, Beaudet A, Eng C, Veyver Ivd. 601: Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis American Journal of Obstetrics and Gynecology. 197. DOI: 10.1016/J.Ajog.2007.10.627 |
0.281 |
|
2005 |
Hiatt P, Brunetti-Pierri N, Koehler D, McConnell R, Katkin J, Palmer D, Dimmock D, Hu J, Finegold M, Beaudet A, Carey D, Rice K, Ng P. 815. Aerosol Delivery of Helper-Dependent Adenoviral Vector into Nonhuman Primate Lungs Results in High Efficiency Pulmonary Transduction with Minimal Toxicity Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.352 |
0.281 |
|
2004 |
Brunetti-Pierri N, Palmer DJ, Beaudet AL, Carey KD, Finegold M, Ng P. Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates. Human Gene Therapy. 15: 35-46. PMID 14965376 DOI: 10.1089/10430340460732445 |
0.28 |
|
2011 |
Dimmock D, Brunetti-Pierri N, Palmer DJ, Beaudet AL, Ng P. Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. Human Gene Therapy. 22: 483-8. PMID 20973621 DOI: 10.1089/hum.2010.167 |
0.28 |
|
1986 |
Batshaw ML, Msall M, Beaudet AL, Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficency The Journal of Pediatrics. 108: 236-241. PMID 3944708 DOI: 10.1016/S0022-3476(86)80989-1 |
0.28 |
|
2001 |
Collins RG, Jung U, Ramirez M, Bullard DC, Hicks MJ, Smith CW, Ley K, Beaudet AL. Dermal and pulmonary inflammatory disease in E-selectin and P-selectin double-null mice is reduced in triple-selectin-null mice. Blood. 98: 727-35. PMID 11468173 DOI: 10.1182/Blood.V98.3.727 |
0.279 |
|
1992 |
Beaudet AL. Genetic testing for cystic fibrosis. Pediatric Clinics of North America. 39: 213-28. PMID 1553241 DOI: 10.1016/S0031-3955(16)38292-X |
0.279 |
|
2019 |
Muñoz-Fuentes V, Cacheiro P, Meehan TF, Aguilar-Pimentel JA, Beaudet AL, Brown SDM, Dickinson ME, Flenniken AM, Flicek P, Galli A, Mashhadi HH, Heaney JD, Angelis MHd, Kim JK, Lloyd KCK, et al. Correction to: The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation Conservation Genetics. 20: 135-136. DOI: 10.1007/S10592-019-01144-W |
0.279 |
|
1999 |
Pastore L, Morral N, Zhou H, Garcia R, Parks RJ, Kochanek S, Graham FL, Lee B, Beaudet AL. Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors. Human Gene Therapy. 10: 1773-81. PMID 10446917 DOI: 10.1089/10430349950017455 |
0.279 |
|
1988 |
Ledley FD, Koch R, Jew K, Beaudet A, O'Brien WE, Bartos DP, Woo SL. Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria. The Journal of Pediatrics. 113: 463-8. PMID 2900886 DOI: 10.1016/S0022-3476(88)80629-2 |
0.279 |
|
2005 |
Croyle MA, Le HT, Linse KD, Cerullo V, Toietta G, Beaudet A, Pastore L. PEGylated helper-dependent adenoviral vectors: highly efficient vectors with an enhanced safety profile. Gene Therapy. 12: 579-87. PMID 15647765 DOI: 10.1038/Sj.Gt.3302441 |
0.278 |
|
2004 |
Brunetti-Pierri N, Palmer D, Nichols TC, Beaudet AL, Ng P. 163. Phenotypic correction of a hemophilia B dog following systemic administration of a helper-dependent ad vector encoding canine coagulation factor IX Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.123 |
0.278 |
|
2004 |
Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clinical Genetics. 66: 530-6. PMID 15521981 DOI: 10.1111/j.1399-0004.2004.00362.x |
0.278 |
|
2001 |
Zhou H, Zhao T, Pastore L, Nageh M, Zheng W, Rao XM, Beaudet AL. A Cre-expressing cell line and an E1/E2a double-deleted virus for preparation of helper-dependent adenovirus vector. Molecular Therapy : the Journal of the American Society of Gene Therapy. 3: 613-22. PMID 11319924 DOI: 10.1006/mthe.2001.0288 |
0.277 |
|
1992 |
Sanders WE, Wilson RW, Ballantyne CM, Beaudet AL. Molecular cloning and analysis of in vivo expression of murine P-selectin. Blood. 80: 795-800. PMID 1379089 DOI: 10.1182/Blood.V80.3.795.795 |
0.277 |
|
1997 |
Lu H, Smith CW, Perrard J, Bullard D, Tang L, Shappell SB, Entman ML, Beaudet AL, Ballantyne CM. LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice. The Journal of Clinical Investigation. 99: 1340-50. PMID 9077544 DOI: 10.1172/Jci119293 |
0.277 |
|
1996 |
Kunkel EJ, Jung U, Bullard DC, Norman KE, Wolitzky BA, Vestweber D, Beaudet AL, Ley K. Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1. The Journal of Experimental Medicine. 183: 57-65. PMID 8551244 DOI: 10.1084/Jem.183.1.57 |
0.276 |
|
1985 |
Gilroy TE, Beaudet AL, Yu J. A method for analyzing transcription using permeabilized cells. Analytical Biochemistry. 143: 350-60. PMID 6598004 DOI: 10.1016/0003-2697(84)90674-2 |
0.276 |
|
2007 |
Brunetti-Pierri N, Stapleton GE, Palmer DJ, Zuo Y, Mane VP, Finegold MJ, Beaudet AL, Leland MM, Mullins CE, Ng P. Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 732-40. PMID 17285138 DOI: 10.1038/sj.mt.6300102 |
0.275 |
|
1990 |
Northrup H, Beaudet AL, O'Brien WE. Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis. Prenatal Diagnosis. 10: 771-9. PMID 2075179 DOI: 10.1002/pd.1970101203 |
0.275 |
|
2018 |
Albrecht NE, Alevy J, Jiang D, Burger CA, Liu BI, Li F, Wang J, Kim SY, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gaspero A, Justice MJ, ... ... Beaudet AL, et al. Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Reports. 24: 2506-2519. PMID 30157441 DOI: 10.1016/J.Celrep.2018.07.090 |
0.275 |
|
2013 |
Bornstein E, Cheung S, Maliszewski K, Beaudet A, Theil F, Patel A, Pursley A, Minior V, Divon M. 575: Routine testing for copy number variants (CNVs) by chromosomal microarray analysis in patients with a normal karyotype: a single center's 20 month experience American Journal of Obstetrics and Gynecology. 208: S246. DOI: 10.1016/J.AJOG.2012.10.741 |
0.274 |
|
2000 |
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proceedings of the National Academy of Sciences of the United States of America. 97: 8021-6. PMID 10869432 DOI: 10.1073/Pnas.140082197 |
0.274 |
|
2015 |
Bornstein E, Berger S, Cheung S, Maliszewski K, Bacino C, Patel A, Beaudet A, Divon M. OC05.07: Pathologic copy number variations (CNVs) in fetuses with a normal karyotype: does the indication for testing matter? Ultrasound in Obstetrics & Gynecology. 46: 11-11. DOI: 10.1002/UOG.14984 |
0.274 |
|
1998 |
Jiang Y, Tsai TF, Bressler J, Beaudet AL. Imprinting in Angelman and Prader-Willi syndromes. Current Opinion in Genetics & Development. 8: 334-42. PMID 9691003 DOI: 10.1016/S0959-437X(98)80091-9 |
0.273 |
|
1991 |
Yorifuji T, Lemna WK, Ballard CF, Rosenbloom CL, Rozmahel R, Plavsic N, Tsui LC, Beaudet AL. Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator. Genomics. 10: 547-50. PMID 1716243 DOI: 10.1016/0888-7543(91)90434-G |
0.273 |
|
2001 |
Sampson MJ, Decker WK, Beaudet AL, Ruitenbeek W, Armstrong D, Hicks MJ, Craigen WJ. Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3. The Journal of Biological Chemistry. 276: 39206-12. PMID 11507092 DOI: 10.1074/Jbc.M104724200 |
0.272 |
|
2005 |
Brunetti-Pierri N, Nichols T, Palmer D, McCorquodale S, Merricks E, Beaudet A, Ng P. 607. Long-Term Phenotypic Correction of Canine Hemophilia B Following Systemic Administration of Helper Dependent Adenoviral Vector Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.147 |
0.272 |
|
2012 |
Cheung SW, Breman A, Pursley AN, Hixson P, Bi W, Ward P, Shaw C, Lupski JR, Van den Veyver I, Beaudet A, Patel A. 26: Prenatal array comparative genomic hybridization: when is it indicated and what sample is best? Our experience in over 1000 prenatal cases American Journal of Obstetrics and Gynecology. 206: S17. DOI: 10.1016/J.Ajog.2011.10.052 |
0.272 |
|
2005 |
Liang Y, Salas R, Marubio L, Bercovich D, De Biasi M, Beaudet AL, Dani JA. Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors. Neurogenetics. 6: 37-44. PMID 15742216 DOI: 10.1007/s10048-004-0199-7 |
0.272 |
|
1995 |
Bullard DC, Qin L, Lorenzo I, Quinlin WM, Doyle NA, Bosse R, Vestweber D, Doerschuk CM, Beaudet AL. P-selectin/ICAM-1 double mutant mice: acute emigration of neutrophils into the peritoneum is completely absent but is normal into pulmonary alveoli. The Journal of Clinical Investigation. 95: 1782-8. PMID 7535798 DOI: 10.1172/JCI117856 |
0.271 |
|
2017 |
Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, et al. Prevalence of sexual dimorphism in mammalian phenotypic traits. Nature Communications. 8: 15475. PMID 28650954 DOI: 10.1038/Ncomms15475 |
0.271 |
|
2011 |
Beaudet AL. Progress toward noninvasive prenatal diagnosis. Clinical Chemistry. 57: 802-4. PMID 21502312 DOI: 10.1373/clinchem.2011.165563 |
0.27 |
|
1995 |
Ley K, Bullard DC, Arbonés ML, Bosse R, Vestweber D, Tedder TF, Beaudet AL. Sequential contribution of L- and P-selectin to leukocyte rolling in vivo. The Journal of Experimental Medicine. 181: 669-75. PMID 7530761 DOI: 10.1084/jem.181.2.669 |
0.269 |
|
1993 |
Wilson RW, Yorifuji T, Lorenzo I, Smith W, Anderson DC, Belmont JW, Beaudet AL. Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts. Human Gene Therapy. 4: 25-34. PMID 8096398 DOI: 10.1089/hum.1993.4.1-25 |
0.269 |
|
2005 |
Brunetti-Pierri N, Mullins C, Palmer D, Finegold M, Beaudet A, Rice K, Carey D, Ng P. 906. High Efficiency Hepatic Transduction with Minimal Toxicity Following |[ldquo]|Hydrodynamic|[rdquo]| Injection of HDAd into Nonhuman Primates Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.449 |
0.268 |
|
2007 |
Bullard DC, Hu X, Schoeb TR, Collins RG, Beaudet AL, Barnum SR. Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis. Journal of Immunology (Baltimore, Md. : 1950). 178: 851-7. PMID 17202346 DOI: 10.4049/Jimmunol.178.2.851 |
0.268 |
|
1987 |
Spence JE, Buffone GJ, Rosenbloom CL, Fernbach SD, Curry MR, Carpenter RJ, Ledbetter DH, O'Brien WE, Beaudet AL. Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis. Human Genetics. 76: 5-10. PMID 3471704 DOI: 10.1007/Bf00283042 |
0.268 |
|
2004 |
Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics. Part A. 128: 110-3. PMID 15213998 DOI: 10.1002/ajmg.a.30065 |
0.268 |
|
2000 |
Zhou H, Beaudet AL. A new vector system with inducible E2a cell line for production of higher titer and safer adenoviral vectors. Virology. 275: 348-57. PMID 10998335 DOI: 10.1006/viro.2000.0515 |
0.268 |
|
1976 |
Beaudet AL, Nichols BL. Residual altered alpha-mannosidase in human mannosidosis. Biochemical and Biophysical Research Communications. 68: 292-8. PMID 942582 DOI: 10.1016/0006-291X(76)90042-5 |
0.267 |
|
1998 |
Lee B, Reeds P, Healy P, Pastore L, Mull B, Langston C, O'Brien W, Beaudet AL. Adenovirus Mediated Gene Therapy in Citrullinemia: Clinical Correlations of in vivo Nitrogen Flux Measurements in Neontal Bovine Citrullinemia and in Urea Cycle Patients • 723 Pediatric Research. 43: 126-126. DOI: 10.1203/00006450-199804001-00744 |
0.267 |
|
2010 |
Buie T, Campbell DB, Fuchs GJ, Furuta GT, Levy J, Vandewater J, Whitaker AH, Atkins D, Bauman ML, Beaudet AL, Carr EG, Gershon MD, Hyman SL, Jirapinyo P, Jyonouchi H, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 125: S1-18. PMID 20048083 DOI: 10.1542/Peds.2009-1878C |
0.267 |
|
2009 |
Goin-Kochel RP, Porter AE, Peters SU, Shinawi M, Sahoo T, Beaudet AL. The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations. Autism Research : Official Journal of the International Society For Autism Research. 2: 98-108. PMID 19455642 DOI: 10.1002/aur.70 |
0.266 |
|
1977 |
Beaudet AL, Ferry GD, Nichols BL, Rosenberg HS. Cholesterol ester storage disease: Clinical, biochemical, and pathological studies The Journal of Pediatrics. 90: 910-914. PMID 859064 DOI: 10.1016/S0022-3476(77)80557-X |
0.266 |
|
2013 |
Brunetti-Pierri N, Ng T, Iannitti D, Cioffi W, Stapleton G, Law M, Breinholt J, Palmer D, Grove N, Rice K, Bauer C, Finegold M, Beaudet A, Mullins C, Ng P. Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors. Human Gene Therapy. 24: 761-5. PMID 23902403 DOI: 10.1089/hum.2013.071 |
0.266 |
|
2009 |
Brunetti-Pierri N, Stapleton GE, Law M, Breinholt J, Palmer DJ, Zuo Y, Grove NC, Finegold MJ, Rice K, Beaudet AL, Mullins CE, Ng P. Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. Molecular Therapy : the Journal of the American Society of Gene Therapy. 17: 327-33. PMID 19050700 DOI: 10.1038/mt.2008.257 |
0.266 |
|
2001 |
Oka K, Pastore L, Kim IH, Merched A, Nomura S, Lee HJ, Merched-Sauvage M, Arden-Riley C, Lee B, Finegold M, Beaudet A, Chan L. Long-term stable correction of low-density lipoprotein receptor-deficient mice with a helper-dependent adenoviral vector expressing the very low-density lipoprotein receptor. Circulation. 103: 1274-81. PMID 11238273 DOI: 10.1161/01.Cir.103.9.1274 |
0.265 |
|
1988 |
Buffone GJ, Spence JE, Fernbach SD, Curry MR, O'Brien WE, Beaudet AL. Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. Clinical Chemistry. 34: 933-7. PMID 2897257 DOI: 10.1093/Clinchem/34.5.933 |
0.264 |
|
2005 |
Brunetti-Pierri N, Mane V, Palmer D, Beaudet A, Finegold M, Ng P. 905. Hydrodynamic Injection of Helper-Dependent Adenoviral Vectors Increases Liver Transduction Efficiency and Decreases Acute Inflammatory Response Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.448 |
0.264 |
|
2002 |
Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O'Malley BW. Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction. Molecular and Cellular Biology. 22: 525-35. PMID 11756548 DOI: 10.1128/Mcb.22.2.525-535.2002 |
0.264 |
|
2004 |
Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Current Opinion in Pediatrics. 16: 419-26. PMID 15273504 DOI: 10.1097/01.mop.0000133634.79661.cd |
0.264 |
|
2006 |
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A. 140: 413-8. PMID 16470747 DOI: 10.1002/ajmg.a.31074 |
0.264 |
|
2010 |
Beaudet AL, Goin-Kochel RP. Some, but not complete, reassurance on the safety of folic acid fortification. The American Journal of Clinical Nutrition. 92: 1287-8. PMID 21048057 DOI: 10.3945/ajcn.110.004473 |
0.263 |
|
2005 |
Farmen SL, Karp PH, Ng P, Palmer DJ, Koehler DR, Hu J, Beaudet AL, Zabner J, Welsh MJ. Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR. American Journal of Physiology. Lung Cellular and Molecular Physiology. 289: L1123-30. PMID 16085675 DOI: 10.1152/Ajplung.00049.2005 |
0.262 |
|
1997 |
Orr-Urtreger A, Göldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL. Mice Deficient in the α7 Neuronal Nicotinic Acetylcholine Receptor Lack α-Bungarotoxin Binding Sites and Hippocampal Fast Nicotinic Currents The Journal of Neuroscience. 17: 9165-9171. DOI: 10.1523/JNEUROSCI.17-23-09165.1997 |
0.262 |
|
2006 |
Brunetti-Pierri N, Stapleton G, Palmer D, Zuo Y, Beaudet A, Mullins C, Ng P. 1087. Balloon Occlusion Catheter-Based Delivery of HDAd into the Nonhuman Primate Liver Results in Stable, High Level Transgene Expression with Minimal Toxicity Molecular Therapy. 13: S417. DOI: 10.1016/j.ymthe.2006.08.1189 |
0.261 |
|
1997 |
Munoz FM, Hawkins EP, Bullard DC, Beaudet AL, Kaplan SL. Host defense against systemic infection with Streptococcus pneumoniae is impaired in E-, P-, and E-/P-selectin-deficient mice. The Journal of Clinical Investigation. 100: 2099-106. PMID 9329976 DOI: 10.1172/JCI119744 |
0.261 |
|
2000 |
Orr-Urtreger A, Broide RS, Kasten MR, Dang H, Dani JA, Beaudet AL, Patrick JW. Mice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birth. Journal of Neurochemistry. 74: 2154-66. PMID 10800961 DOI: 10.1046/j.1471-4159.2000.0742154.x |
0.261 |
|
1998 |
Mizgerd JP, Quinlan WM, LeBlanc BW, Kutkoski GJ, Bullard DC, Beaudet AL, Doerschuk CM. Combinatorial requirements for adhesion molecules in mediating neutrophil emigration during bacterial peritonitis in mice. Journal of Leukocyte Biology. 64: 291-7. PMID 9738654 DOI: 10.1002/Jlb.64.3.291 |
0.261 |
|
1997 |
Wong J, Johnston B, Lee SS, Bullard DC, Smith CW, Beaudet AL, Kubes P. A minimal role for selectins in the recruitment of leukocytes into the inflamed liver microvasculature. The Journal of Clinical Investigation. 99: 2782-90. PMID 9169509 DOI: 10.1172/JCI119468 |
0.26 |
|
2015 |
Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, ... Beaudet AL, et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26633545 DOI: 10.1038/Gim.2015.142 |
0.26 |
|
2008 |
Van Den Veyver IB, Breman AM, Pursley AN, Bi W, White LD, Shaw CA, Lupski JR, Beaudet AL, Patel A, Cheung SW. 685: Prenatal detection of genomic imbalances in six days from uncultured amniocytes by targeted oligonucleotide array CGH American Journal of Obstetrics and Gynecology. 199: S195. DOI: 10.1016/J.Ajog.2008.09.715 |
0.26 |
|
1978 |
Michels VV, Beaudet AL. Arginase deficiency in multiple tissues in argininemia. Clinical Genetics. 13: 61-7. PMID 624188 DOI: 10.1111/j.1399-0004.1978.tb04128.x |
0.26 |
|
1996 |
Staite ND, Justen JM, Sly LM, Beaudet AL, Bullard DC. Inhibition of delayed-type contact hypersensitivity in mice deficient in both E-selectin and P-selectin. Blood. 88: 2973-9. PMID 8874194 DOI: 10.1182/Blood.V88.8.2973.Bloodjournal8882973 |
0.259 |
|
2019 |
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, ... ... Beaudet A, et al. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nature Medicine. PMID 30787481 DOI: 10.1038/S41591-019-0391-9 |
0.259 |
|
1999 |
Xu W, Orr-Urtreger A, Nigro F, Gelber S, Sutcliffe CB, Armstrong D, Patrick JW, Role LW, Beaudet AL, De Biasi M. Multiorgan Autonomic Dysfunction in Mice Lacking the β2 and the β4 Subunits of Neuronal Nicotinic Acetylcholine Receptors The Journal of Neuroscience. 19: 9298-9305. DOI: 10.1523/Jneurosci.19-21-09298.1999 |
0.259 |
|
2003 |
Arredondo J, Hall LL, Ndoye A, Nguyen VT, Chernyavsky AI, Bercovich D, Orr-Urtreger A, Beaudet AL, Grando SA. Central role of fibroblast alpha3 nicotinic acetylcholine receptor in mediating cutaneous effects of nicotine. Laboratory Investigation; a Journal of Technical Methods and Pathology. 83: 207-25. PMID 12594236 DOI: 10.1097/01.Lab.0000053917.46614.12 |
0.258 |
|
1977 |
Richardson MM, Beaudet AL, Wagner ML, Malini S, Rosenberg HS, Lucci JA. Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. The Journal of Pediatrics. 91: 467-71. PMID 894422 DOI: 10.1016/S0022-3476(77)81327-9 |
0.257 |
|
1997 |
Morral N, O'Neal W, Zhou H, Langston C, Beaudet A. Immune responses to reporter proteins and high viral dose limit duration of expression with adenoviral vectors: comparison of E2a wild type and E2a deleted vectors. Human Gene Therapy. 8: 1275-86. PMID 9215744 DOI: 10.1089/hum.1997.8.10-1275 |
0.257 |
|
2001 |
Manka D, Collins RG, Ley K, Beaudet AL, Sarembock IJ. Absence of p-selectin, but not intercellular adhesion molecule-1, attenuates neointimal growth after arterial injury in apolipoprotein e-deficient mice. Circulation. 103: 1000-5. PMID 11181476 DOI: 10.1161/01.Cir.103.7.1000 |
0.256 |
|
2015 |
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, ... ... Beaudet AL, et al. Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment Obstetrical and Gynecological Survey. 70: 164-167. DOI: 10.1097/01.Ogx.0000462915.64193.1B |
0.256 |
|
2000 |
Collins RG, Velji R, Guevara NV, Hicks MJ, Chan L, Beaudet AL. P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice. The Journal of Experimental Medicine. 191: 189-94. PMID 10620617 DOI: 10.1084/jem.191.1.189 |
0.254 |
|
2003 |
Dunne JL, Collins RG, Beaudet AL, Ballantyne CM, Ley K. Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation. Journal of Immunology (Baltimore, Md. : 1950). 171: 6105-11. PMID 14634125 DOI: 10.4049/Jimmunol.171.11.6105 |
0.254 |
|
2000 |
Forlow SB, White EJ, Barlow SC, Feldman SH, Lu H, Bagby GJ, Beaudet AL, Bullard DC, Ley K. Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice. The Journal of Clinical Investigation. 106: 1457-66. PMID 11120753 DOI: 10.1172/Jci10555 |
0.254 |
|
1985 |
Greenberg F, Ledbetter D, Kirkland J, Shearer W, Rosenblatt H, Beaudet AL. 1289 PROSPECTIVE CLINICAL AND CYTOGENETIC STUDY OF DiGEORGE SEQUENCE Pediatric Research. 19: 325A-325A. DOI: 10.1203/00006450-198504000-01313 |
0.254 |
|
2004 |
Kedmi M, Beaudet AL, Orr-Urtreger A. Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. Physiological Genomics. 17: 221-9. PMID 14996991 DOI: 10.1152/physiolgenomics.00202.2003 |
0.253 |
|
2017 |
Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, ... ... Beaudet AL, et al. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28125085 DOI: 10.1038/Gim.2016.215 |
0.253 |
|
1987 |
Overhauser J, Beaudet AL, Wasmuth JJ. A highly polymorphic locus in 5p15.2-5p15.3 (213-274EC) revealed by an anonymous single copy DNA fragment. Nucleic Acids Research. 15: 1345. PMID 2881272 DOI: 10.1093/Nar/15.3.1345 |
0.252 |
|
1995 |
Katkin JP, Gilbert BE, Langston C, French K, Beaudet AL. Aerosol delivery of a beta-galactosidase adenoviral vector to the lungs of rodents. Human Gene Therapy. 6: 985-95. PMID 7578420 DOI: 10.1089/Hum.1995.6.8-985 |
0.252 |
|
1985 |
Ambruso DR, Mccabe ERB, Anderson D, Beaudet A, Mahoney DH, Ballas LM, Brandt IK, Brown B, Coleman R, Kinney TR, Friedman HS, Falletta JM, Haymond MW, Simmons P, Keating JP, et al. Infectious and Bleeding Complications in Patients With Glycogenosis lb American Journal of Diseases of Children. 139: 691-697. PMID 3860000 DOI: 10.1001/Archpedi.1985.02140090053027 |
0.252 |
|
1996 |
Lindberg FP, Bullard DC, Caver TE, Gresham HD, Beaudet AL, Brown EJ. Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice. Science (New York, N.Y.). 274: 795-8. PMID 8864123 DOI: 10.1126/science.274.5288.795 |
0.252 |
|
2008 |
Beaudet AL. Allan Award lecture: Rare patients leading to epigenetics and back to genetics. American Journal of Human Genetics. 82: 1034-8. PMID 18468009 DOI: 10.1016/j.ajhg.2008.04.009 |
0.252 |
|
2016 |
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. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. Journal of Autism and Developmental Disorders. PMID 27853923 DOI: 10.1007/s10803-016-2961-8 |
0.251 |
|
2005 |
Brunetti-Pierri N, Palmer DJ, Mane V, Finegold M, Beaudet AL, Ng P. Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 99-106. PMID 15963925 DOI: 10.1016/j.ymthe.2005.03.001 |
0.251 |
|
1982 |
Beaudet AL, Manschreck AA. Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B. Biochemical and Biophysical Research Communications. 105: 14-9. PMID 7092849 DOI: 10.1016/S0006-291X(82)80004-1 |
0.25 |
|
1975 |
Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL, Mullins CE. Variation in the phenotypic expression of beta-glucuronidase deficiency. The Journal of Pediatrics. 86: 388-94. PMID 803560 DOI: 10.1016/S0022-3476(75)80968-1 |
0.25 |
|
1978 |
Michels VV, Hittner HM, Beaudet AL. A clefting syndrome with ocular anterior chamber defect and lid anomalies. The Journal of Pediatrics. 93: 444-6. PMID 690758 DOI: 10.1016/S0022-3476(78)81154-8 |
0.25 |
|
1986 |
Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency American Journal of Human Genetics. 38: 149-158. PMID 3004207 |
0.249 |
|
1986 |
Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL. The Perlman familial nephroblastomatosis syndrome. American Journal of Medical Genetics. 24: 101-10. PMID 3010722 DOI: 10.1002/ajmg.1320240112 |
0.249 |
|
1980 |
Beaudet AL, Hampton MS, Patel K, Sparrow JT. Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease. Clinica Chimica Acta; International Journal of Clinical Chemistry. 108: 403-14. PMID 6781796 DOI: 10.1016/0009-8981(80)90348-4 |
0.249 |
|
1999 |
Tsai TF, Armstrong D, Beaudet AL. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nature Genetics. 22: 15-6. PMID 10319852 DOI: 10.1038/8722 |
0.248 |
|
1998 |
Paylor R, Nguyen M, Crawley JN, Patrick J, Beaudet A, Orr-Urtreger A. α7 Nicotinic Receptor Subunits Are Not Necessary for Hippocampal-Dependent Learning or Sensorimotor Gating: A Behavioral Characterization of Acra7-Deficient Mice Learning & Memory. 5: 302-316. DOI: 10.1101/Lm.5.4.302 |
0.248 |
|
1978 |
Pollack L, Hansen T, Adams J, Beaudet A. 1012 Transient Hyperammonemia In Term And Preterm Infants Pediatric Research. 12: 532-532. DOI: 10.1203/00006450-197804001-01018 |
0.248 |
|
2000 |
Sweeney EA, Priestley GV, Nakamoto B, Collins RG, Beaudet AL, Papayannopoulou T. Mobilization of stem/progenitor cells by sulfated polysaccharides does not require selectin presence. Proceedings of the National Academy of Sciences of the United States of America. 97: 6544-9. PMID 10841555 DOI: 10.1073/pnas.97.12.6544 |
0.248 |
|
1997 |
Kanwar S, Bullard DC, Hickey MJ, Smith CW, Beaudet AL, Wolitzky BA, Kubes P. The association between alpha4-integrin, P-selectin, and E-selectin in an allergic model of inflammation. The Journal of Experimental Medicine. 185: 1077-87. PMID 9091581 DOI: 10.1084/jem.185.6.1077 |
0.248 |
|
2017 |
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. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 551: 398. PMID 29144450 DOI: 10.1038/Nature24643 |
0.248 |
|
2002 |
Dunne JL, Ballantyne CM, Beaudet AL, Ley K. Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1. Blood. 99: 336-41. PMID 11756189 DOI: 10.1182/Blood.V99.1.336 |
0.248 |
|
2004 |
Brunetti–Pierri N, Mane V, Palmer D, Beaudet AL, Ng P. 789. Hydrodynamic Injection of Helper Dependent Adenoviral Vectors Increases Liver Transduction Efficiency and Decreases Acute Inflammatory Response Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.879 |
0.248 |
|
1996 |
Kumasaka T, Quinlan WM, Doyle NA, Condon TP, Sligh J, Takei F, Beaudet Al, Bennett CF, Doerschuk CM. Role of the intercellular adhesion molecule-1(ICAM-1) in endotoxin-induced pneumonia evaluated using ICAM-1 antisense oligonucleotides, anti-ICAM-1 monoclonal antibodies, and ICAM-1 mutant mice. The Journal of Clinical Investigation. 97: 2362-9. PMID 8636417 DOI: 10.1172/Jci118679 |
0.247 |
|
1998 |
Scharffetter-Kochanek K, Lu H, Norman K, van Nood N, Munoz F, Grabbe S, McArthur M, Lorenzo I, Kaplan S, Ley K, Smith CW, Montgomery CA, Rich S, Beaudet AL. Spontaneous skin ulceration and defective T cell function in CD18 null mice. The Journal of Experimental Medicine. 188: 119-31. PMID 9653089 DOI: 10.1084/Jem.188.1.119 |
0.247 |
|
1987 |
Beaudet AL. Gaucher's disease. The New England Journal of Medicine. 316: 619-21. PMID 3807955 DOI: 10.1056/NEJM198703053161009 |
0.247 |
|
2006 |
Brunetti-Pierri N, Ng T, Iannitti DA, Palmer DJ, Beaudet AL, Finegold MJ, Carey KD, Cioffi WG, Ng P. Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates. Human Gene Therapy. 17: 391-404. PMID 16610927 DOI: 10.1089/hum.2006.17.391 |
0.247 |
|
2015 |
Lloyd KC, Meehan T, Beaudet A, Murray S, Svenson K, McKerlie C, West D, Morse I, Parkinson H, Brown S, Mallon AM, Moore M. Precision medicine: Look to the mice. Science (New York, N.Y.). 349: 390. PMID 26206923 DOI: 10.1126/Science.349.6246.390-A |
0.247 |
|
1989 |
Rosenbloom CL, Kerem BS, Rommens JM, Tsui LC, Wainwright B, Williamson R, O'Brien WE, Beaudet AL. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucleic Acids Research. 17: 7117. PMID 2571129 DOI: 10.1093/Nar/17.17.7117 |
0.247 |
|
1981 |
Hurt MM, Beaudet AL, Moses RE. Repair of Bleomycin-damaged DNA by human fibroblasts. Journal of Supramolecular Structure and Cellular Biochemistry. 16: 303-9. PMID 6171650 DOI: 10.1002/Jsscb.1981.380160402 |
0.246 |
|
2004 |
Nguyen VT, Chernyavsky AI, Arredondo J, Bercovich D, Orr-Urtreger A, Vetter DE, Wess J, Beaudet AL, Kitajima Y, Grando SA. Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes. Experimental Cell Research. 294: 534-49. PMID 15023540 DOI: 10.1016/J.Yexcr.2003.12.010 |
0.245 |
|
2005 |
Brunetti-Pierri N, Ng T, Iannitti D, Cioffi W, Palmer D, Beaudet A, Finegold M, Carey D, Ng P. 904. High Efficiency Hepatic Transduction and Long-Term Transgene Expression by Delivering Helper-Dependent Adenoviral Vectors into the Surgically Isolated Liver of Nonhuman Primates Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.07.447 |
0.245 |
|
1989 |
Jackson MJ, Kobayashi K, Beaudet AL, O'Brien WE. Analysis of deletions at the human argininosuccinate synthetase locus. Molecular Biology & Medicine. 6: 179-86. PMID 2615645 |
0.245 |
|
2010 |
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, ... ... Beaudet AL, et al. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. American Journal of Medical Genetics. Part A. 152: 573-81. PMID 20186804 DOI: 10.1002/ajmg.a.33253 |
0.245 |
|
2007 |
Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW. Microarray analysis for constitutional cytogenetic abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 654-62. PMID 17873655 DOI: 10.1097/GIM.0b013e31814ce3d9 |
0.245 |
|
2000 |
Franceschini D, Orr-Urtreger A, Yu W, Mackey LY, Bond RA, Armstrong D, Patrick JW, Beaudet AL, De Biasi M. Altered baroreflex responses in alpha7 deficient mice. Behavioural Brain Research. 113: 3-10. PMID 10942027 DOI: 10.1016/S0166-4328(00)00195-9 |
0.245 |
|
1981 |
Su T, Beaudet AL, O'Brien WE. Increased translatable messenger ribonucleic acid for argininosuccinate synthetase in canavanine-resistant human cells. Biochemistry. 20: 2956-2960. PMID 6941812 DOI: 10.1021/Bi00513A037 |
0.245 |
|
1977 |
Michels VV, Beaudet AL, Clayton GW. METABOLIC STUDIES IN ARGININEMIA Pediatric Research. 11: 460-460. DOI: 10.1203/00006450-197704000-00541 |
0.245 |
|
2010 |
Beaudet AL. Which way for genetic-test regulation? Leave test interpretation to specialists. Nature. 466: 816-7. PMID 20703287 DOI: 10.1038/466816a |
0.244 |
|
1998 |
Jung U, Norman KE, Scharffetter-Kochanek K, Beaudet AL, Ley K. Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo. The Journal of Clinical Investigation. 102: 1526-33. PMID 9788965 DOI: 10.1172/Jci119893 |
0.243 |
|
2003 |
Salas R, Orr-Urtreger A, Broide RS, Beaudet A, Paylor R, De Biasi M. The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo. Molecular Pharmacology. 63: 1059-66. PMID 12695534 DOI: 10.1124/mol.63.5.1059 |
0.242 |
|
2006 |
Hiatt P, Brunetti-Pierri N, McConnell R, Palmer D, Katkin J, Dimmock D, Zuo Y, Finegold M, Beaudet A, Ng P. 683. Bronchoscope-Guided, Targeted Lobar Aersolization of HDAd into the Lungs of Nonhuman Primate Results in Exceedingly High Pulmonary Transduction Uniformally throughout the Entire Lung with Negligible Toxicity Molecular Therapy. 13: S264. DOI: 10.1016/J.Ymthe.2006.08.761 |
0.242 |
|
1982 |
Michels VV, Beaudet AL, Potts VE, Montandon CM. Glycogen storage disease: long-term follow-up of nocturnal intragastric feeding. Clinical Genetics. 21: 136-40. PMID 6805987 DOI: 10.1111/j.1399-0004.1982.tb00750.x |
0.242 |
|
2002 |
Zhou HS, Zhao T, Rao XM, Beaudet AL. Production of helper-dependent adenovirus vector relies on helper virus structure and complementing. The Journal of Gene Medicine. 4: 498-509. PMID 12221643 DOI: 10.1002/jgm.301 |
0.242 |
|
1989 |
Wilson RW, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA from the mouse leukocyte adhesion protein CD18. Nucleic Acids Research. 17: 5397. PMID 2569711 DOI: 10.1093/Nar/17.13.5397 |
0.241 |
|
1990 |
Gibson KM, Lee CF, Kamali V, Johnston K, Beaudet AL, Craigen WJ, Powell BR, Schwartz R, Tsai MY, Tuchman M. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clinical Chemistry. 36: 297-303. PMID 2302772 DOI: 10.1093/Clinchem/36.2.297 |
0.241 |
|
1980 |
Michels VV, Beaudet AL. Cholesteryl lignocerate hydrolysis in adrenoleukodystrophy. Pediatric Research. 14: 21-3. PMID 6767215 DOI: 10.1203/00006450-198001000-00006 |
0.241 |
|
1983 |
Hurt MM, Beaudet AL, Moses RE. Repair response of human fibroblasts to bleomycin damage. Mutation Research. 112: 181-9. PMID 6191214 DOI: 10.1016/0167-8817(83)90039-1 |
0.24 |
|
2005 |
Bao J, Lei D, Du Y, Ohlemiller KK, Beaudet AL, Role LW. Requirement of nicotinic acetylcholine receptor subunit beta2 in the maintenance of spiral ganglion neurons during aging. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 3041-5. PMID 15788760 DOI: 10.1523/Jneurosci.5277-04.2005 |
0.239 |
|
1983 |
Hurt MM, Beaudet AL, Moses RE. Stable low molecular weight DNA in xeroderma pigmentosum cells. Proceedings of the National Academy of Sciences of the United States of America. 80: 6987-91. PMID 6196782 DOI: 10.1073/Pnas.80.22.6987 |
0.239 |
|
2005 |
Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Annals of Neurology. 57: 557-60. PMID 15786446 DOI: 10.1002/Ana.20419 |
0.239 |
|
2004 |
Brunetti-Pierri N, Cioffi W, Iannitti D, Ng T, Palmer D, Beaudet A, Finegold M, Rice K, Carey D, Ng P. 174. High efficiency HDAd-mediated hepatic transduction can be achieved by delivery into the surgically isolated liver of nonhuman primates Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.134 |
0.238 |
|
1978 |
Michels V, Beaudet A, Batshaw M, Walser M. 542 Dietary Therapy Of Ornithine Transcarbamylase (Otc) Deficiency Pediatric Research. 12: 454-454. DOI: 10.1203/00006450-197804001-00547 |
0.238 |
|
1983 |
Irani D, Kim HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D. Postmortem observations on β-glucuronidase deficiency presenting as hydrops fetalis Annals of Neurology. 14: 486-490. PMID 6685450 DOI: 10.1002/Ana.410140415 |
0.237 |
|
1989 |
Ballantyne CM, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA for murine intercellular adhesion molecule-1 (ICAM-1). Nucleic Acids Research. 17: 5853. PMID 2762164 DOI: 10.1093/Nar/17.14.5853 |
0.237 |
|
2016 |
Hsu CW, Wong L, Rasmussen TL, Kalaga S, McElwee ML, Keith LC, Bohat R, Seavitt JR, Beaudet AL, Dickinson ME. Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages. Developmental Biology. PMID 27671873 DOI: 10.1016/J.Ydbio.2016.09.011 |
0.237 |
|
2002 |
Shlush LI, Behar DM, Zelazny A, Keller N, Lupski JR, Beaudet AL, Bercovich D. Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. Journal of Clinical Microbiology. 40: 3565-71. PMID 12354847 DOI: 10.1128/JCM.40.10.3565-3571.2002 |
0.236 |
|
1997 |
Mizgerd JP, Kubo H, Kutkoski GJ, Bhagwan SD, Scharffetter-Kochanek K, Beaudet AL, Doerschuk CM. Neutrophil emigration in the skin, lungs, and peritoneum: different requirements for CD11/CD18 revealed by CD18-deficient mice. The Journal of Experimental Medicine. 186: 1357-64. PMID 9334375 DOI: 10.1084/Jem.186.8.1357 |
0.236 |
|
2009 |
Ogilvie CM, Yaron Y, Beaudet AL. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenatal Diagnosis. 29: 11-4. PMID 19012273 DOI: 10.1002/pd.2107 |
0.235 |
|
2001 |
Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 56: 1113. PMID 11320193 DOI: 10.1212/Wnl.56.8.1113 |
0.234 |
|
2002 |
Morral N, O'Neal WK, Rice K, Leland MM, Piedra PA, Aguilar-Córdova E, Carey KD, Beaudet AL, Langston C. Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons. Human Gene Therapy. 13: 143-54. PMID 11779418 DOI: 10.1089/10430340152712692 |
0.234 |
|
1993 |
Beaudet AL, Tsui LC. A suggested nomenclature for designating mutations. Human Mutation. 2: 245-8. PMID 8401532 DOI: 10.1002/humu.1380020402 |
0.233 |
|
1988 |
Surh LC, Morris SM, O'Brien WE, Beaudet AL. Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase. Nucleic Acids Research. 16: 9352. PMID 3174461 DOI: 10.1093/nar/16.19.9352 |
0.232 |
|
2008 |
Beaudet AL. Epigenetics and complex human disease: is there a role in IBD? Journal of Pediatric Gastroenterology and Nutrition. 46: E2. PMID 18354324 DOI: 10.1097/01.mpg.0000313815.73649.37 |
0.232 |
|
2002 |
Whiteaker P, Peterson CG, Xu W, McIntosh JM, Paylor R, Beaudet AL, Collins AC, Marks MJ. Involvement of the α3 Subunit in Central Nicotinic Binding Populations The Journal of Neuroscience. 22: 2522-2529. DOI: 10.1523/Jneurosci.22-07-02522.2002 |
0.232 |
|
2003 |
Cooper B, Schneider S, Bohl J, Jiang Yh, Beaudet A, Vande Pol S. Requirement of E6AP and the features of human papillomavirus E6 necessary to support degradation of p53. Virology. 306: 87-99. PMID 12620801 DOI: 10.1016/S0042-6822(02)00012-0 |
0.232 |
|
1999 |
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, ... Beaudet AL, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Human Molecular Genetics. 8: 129-35. PMID 9887341 DOI: 10.1093/Hmg/8.1.129 |
0.231 |
|
1979 |
Michels VV, Driscoll DJ, Ferry GD, Duff DF, Beaudet AL. Pulmonary vascular obstruction associated with cholesteryl ester storage disease. The Journal of Pediatrics. 94: 621-623. PMID 430306 DOI: 10.1016/S0022-3476(79)80033-5 |
0.231 |
|
2019 |
Vossaert L, Wang Q, Salman R, McCombs A, Henke D, Qu C, Bi W, Levy B, Yang Y, Shaw C, Wapner R, Breman A, Veyver IVd, Beaudet A. 900: A pilot validation study for cell-based noninvasive prenatal testing (NIPT) in 42 cases American Journal of Obstetrics and Gynecology. 220. DOI: 10.1016/J.Ajog.2018.11.924 |
0.23 |
|
1977 |
Dabney BJ, Beaudet AL. Increase in globin chains and globin mRNA in erythroleukemia cells in response to hemin. Archives of Biochemistry and Biophysics. 179: 106-12. PMID 265145 DOI: 10.1016/0003-9861(77)90092-3 |
0.23 |
|
1980 |
Michels VV, Beaudet AL. Hemorrhagic pancreatitis in a patient with glycogen storage disease type I. Clinical Genetics. 17: 220-2. PMID 6928812 DOI: 10.1111/j.1399-0004.1980.tb00136.x |
0.23 |
|
1991 |
Smith CW, Entman ML, Lane CL, Beaudet AL, Ty TI, Youker K, Hawkins HK, Anderson DC. Adherence of neutrophils to canine cardiac myocytes in vitro is dependent on intercellular adhesion molecule-1. The Journal of Clinical Investigation. 88: 1216-23. PMID 1680878 DOI: 10.1172/JCI115424 |
0.228 |
|
2018 |
Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, ... ... Beaudet AL, et al. Identification of genes required for eye development by high-throughput screening of mouse knockouts. Communications Biology. 1: 236. PMID 30588515 DOI: 10.1038/s42003-018-0226-0 |
0.228 |
|
2020 |
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, ... Beaudet AL, et al. Human and mouse essentiality screens as a resource for disease gene discovery. Nature Communications. 11: 655. PMID 32005800 DOI: 10.1038/S41467-020-14284-2 |
0.227 |
|
2004 |
Robker RL, Collins RG, Beaudet AL, Mersmann HJ, Smith CW. Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors. Obesity Research. 12: 936-40. PMID 15229332 DOI: 10.1038/oby.2004.114 |
0.227 |
|
1988 |
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics. 42: 217-26. PMID 2893543 |
0.224 |
|
1986 |
Ahmad TY, Beaudet AL, Sparrow JT, Morrisett JD. Human lysosomal sphingomyelinase: substrate efficacy of apolipoprotein/sphingomyelin complexes. Biochemistry. 25: 4415-20. PMID 3019390 DOI: 10.1021/BI00363A036 |
0.223 |
|
2016 |
Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. Journal of Inherited Metabolic Disease. PMID 27225280 DOI: 10.1007/S10545-016-9944-Y |
0.221 |
|
1997 |
Munoz FM, Hawkins EP, Bullard DC, Beaudet AL, Kaplan SL. Host defense against systemic infection with S. pneumoniae is impaired in endothelial selectin-deficient mice • 747 Pediatric Research. 41: 127-127. DOI: 10.1203/00006450-199704001-00767 |
0.221 |
|
2003 |
Bercovich D, Beaudet AL. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A. Genetic Testing. 7: 189-94. PMID 14641994 DOI: 10.1089/109065703322537197 |
0.22 |
|
2002 |
Beaudet AL. Is medical genetics neglecting epigenetics? Genetics in Medicine : Official Journal of the American College of Medical Genetics. 4: 399-402. PMID 12394355 DOI: 10.1097/00125817-200209000-00013 |
0.219 |
|
2019 |
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, ... ... Beaudet A, et al. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nature Medicine. PMID 30692697 DOI: 10.1038/s41591-018-0334-x |
0.219 |
|
2010 |
Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, ... Beaudet AL, et al. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. The Journal of Clinical Investigation. 120: 2474-85. PMID 20530870 DOI: 10.1172/Jci42150 |
0.217 |
|
1986 |
Hejtmancik JF, Ledbetter DH, Beaudet AL, Quigley MM. A trisomic child after in vitro fertilization: result of paternal nondisjunction. Fertility and Sterility. 44: 830-1. PMID 2416598 DOI: 10.1016/S0015-0282(16)49046-1 |
0.217 |
|
2010 |
Bernstein BE, Stamatoyannopoulos JA, Costello JF, Ren B, Milosavljevic A, Meissner A, Kellis M, Marra MA, Beaudet AL, Ecker JR, Farnham PJ, Hirst M, Lander ES, Mikkelsen TS, Thomson JA. The NIH Roadmap Epigenomics Mapping Consortium. Nature Biotechnology. 28: 1045-8. PMID 20944595 DOI: 10.1038/Nbt1010-1045 |
0.216 |
|
1986 |
Herman GE, O'Brien WE, Beaudet AL. An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression. Nucleic Acids Research. 14: 7130. PMID 3093988 DOI: 10.1093/Nar/14.17.7130 |
0.216 |
|
2003 |
Lee SH, Prince JE, Rais M, Kheradmand F, Shardonofsky F, Lu H, Beaudet AL, Smith CW, Soong L, Corry DB. Differential requirement for CD18 in T-helper effector homing. Nature Medicine. 9: 1281-6. PMID 14502280 DOI: 10.1038/Nm932 |
0.216 |
|
1987 |
Beaudet AL, Buffone GJ. Prenatal diagnosis of cystic fibrosis. The Journal of Pediatrics. 111: 630-3. PMID 2888843 DOI: 10.1016/S0022-3476(87)80137-3 |
0.215 |
|
1993 |
Levin ML, Scheimann A, Lewis RA, Beaudet AL. Cerebral edema in maple syrup urine disease. The Journal of Pediatrics. 122: 167-8. PMID 8419609 DOI: 10.1016/S0022-3476(05)83521-8 |
0.214 |
|
2006 |
Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. The Journal of Pediatrics. 149: 192-8. PMID 16887432 DOI: 10.1016/J.Jpeds.2006.04.013 |
0.213 |
|
2020 |
Panchalee T, Vossaert L, Wang Q, Crovetti BR, McCombs AK, Wapner RJ, Van den Veyver IB, Beaudet AL. The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing. Prenatal Diagnosis. PMID 32452065 DOI: 10.1002/pd.5755 |
0.211 |
|
1993 |
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics. 18: 546-52. PMID 8307564 DOI: 10.1016/S0888-7543(11)80011-X |
0.209 |
|
1983 |
Michels VV, Beaudet AL. Treatment of OTC deficiency. The Journal of Pediatrics. 102: 321. PMID 6822945 DOI: 10.1016/S0022-3476(83)80558-7 |
0.204 |
|
1991 |
Ballantyne CM, Kozak CA, O'Brien WE, Beaudet AL. Assignment of the gene for intercellular adhesion molecule-1 (Icam-1) to proximal mouse chromosome 9. Genomics. 9: 547-50. PMID 1674500 |
0.199 |
|
1987 |
Berchtold MW, Epstein P, Beaudet AL, Payne ME, Heizmann CW, Means AR. Structural organization and chromosomal assignment of the parvalbumin gene. The Journal of Biological Chemistry. 262: 8696-701. PMID 3036821 |
0.195 |
|
1987 |
Jackson MJ, Beaudet AL, O'Brien WE. Mammalian urea cycle enzymes. Annual Review of Genetics. 20: 431-64. PMID 3545062 DOI: 10.1146/ANNUREV.GE.20.120186.002243 |
0.194 |
|
2021 |
Zhuo X, Wang Q, Vossaert L, Salman R, Kim A, Van den Veyver I, Breman A, Beaudet A. Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT. Plos One. 16: e0249695. PMID 33857205 DOI: 10.1371/journal.pone.0249695 |
0.193 |
|
1976 |
Broadwell DK, Beaudet AL. Letter: Interference of radiopaque dyes with the 2,4-dinitrophenylhydrazine test. The Journal of Pediatrics. 89: 156-7. PMID 932888 DOI: 10.1016/S0022-3476(76)80960-2 |
0.192 |
|
1993 |
Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T. A search for the primary abnormality in adult-onset type II citrullinemia. American Journal of Human Genetics. 53: 1024-30. PMID 8105687 |
0.188 |
|
1988 |
Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Le Beau MM, Beaudet AL, Gray JW, Sekhon G, Krassikoff N. Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis. American Journal of Medical Genetics. 31: 643-54. PMID 3228143 DOI: 10.1002/Ajmg.1320310320 |
0.181 |
|
2004 |
Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. Journal of Medical Genetics. 41: 113-9. PMID 14757858 DOI: 10.1136/Jmg.2003.012831 |
0.178 |
|
1993 |
Wilson RW, Ballantyne CM, Smith CW, Montgomery C, Bradley A, O'Brien WE, Beaudet AL. Gene targeting yields a CD18-mutant mouse for study of inflammation. Journal of Immunology (Baltimore, Md. : 1950). 151: 1571-8. PMID 8101543 |
0.176 |
|
2020 |
Wapner RJ, Van den Veyver IB, Beaudet AL. Obituary: Laird Jackson. Prenatal Diagnosis. PMID 32030760 DOI: 10.1002/pd.5647 |
0.174 |
|
1991 |
Beaudet AL, Feldman GL, Kobayashi K, Lemna WK, Fernbach SD, Knowles MR, Boucher RC, O'Brien WE. Mutation analysis for cystic fibrosis in a North American population. Advances in Experimental Medicine and Biology. 290: 53-4. PMID 1950757 DOI: 10.1007/978-1-4684-5934-0_7 |
0.168 |
|
1989 |
Beaudet AL, Feldman GL, Fernbach SD, Buffone GJ, O'Brien WE. Linkage disequilibrium, cystic fibrosis, and genetic counseling. American Journal of Human Genetics. 44: 319-26. PMID 2916578 |
0.166 |
|
1995 |
Bullard DC, Sandberg ET, Scharffetter-Kochanek K, Beaudet AL. Gene targeting for inflammatory cell adhesion molecules. Agents and Actions. Supplements. 47: 143-54. PMID 7540354 |
0.165 |
|
2018 |
Beaudet AL. 2017 Victor A. McKusick Leadership Award. American Journal of Human Genetics. 102: 361-363. PMID 29499163 DOI: 10.1016/j.ajhg.2018.01.011 |
0.164 |
|
2016 |
Haeri M, Gelowani V, Beaudet AL. Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach. Methodsx. 3: 8-18. PMID 26862485 DOI: 10.1016/j.mex.2015.11.005 |
0.163 |
|
2016 |
Haeri M, Gelowani V, Beaudet AL. Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach Methodsx. 3: 8-18. DOI: 10.1016/j.mex.2015.11.005 |
0.163 |
|
1998 |
Antonarakis SE, Ashburner M, Auerbach AD, Beaudet AL, Beckmann JS, Beutler E, Cooper DN, Cotton RGH, Den Dunnen JT, Desnick RJ, Eng C, Fasman KH, Goldman D, Hayashi K, Hutchinson F, et al. Recommendations for a nomenclature system for human gene mutations Human Mutation. 11: 1-3. |
0.162 |
|
1990 |
Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. The Journal of Biological Chemistry. 265: 11361-7. PMID 2358466 |
0.158 |
|
1990 |
Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL. Benign missense variations in the cystic fibrosis gene. American Journal of Human Genetics. 47: 611-5. PMID 1977306 |
0.157 |
|
1996 |
Ledbetter DH, Christian SL, Kubota T, Mutirangura A, Sutcliffe JS, Nakao M, Beaudet AL. Dosage and imprinting effects in abnormalities of human chromosome 15 Acta Geneticae Medicae Et Gemellologiae. 45: 83. DOI: 10.1017/S0001566000001136 |
0.155 |
|
1983 |
Bock HG, Su TS, O'Brien WE, Beaudet AL. Sequence for human argininosuccinate synthetase cDNA. Nucleic Acids Research. 11: 6505-12. PMID 6194510 DOI: 10.1093/NAR/11.18.6505 |
0.154 |
|
2009 |
Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, ... ... Beaudet AL, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics. 46: 382-8. PMID 19289393 DOI: 10.1136/jmg.2008.064378 |
0.152 |
|
2013 |
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 Obstetrical and Gynecological Survey. 68: 276-278. DOI: 10.1097/01.ogx.0000429294.57890.b8 |
0.151 |
|
1998 |
Tsai TF, Raas-Rothschild A, Ben-Neriah Z, Beaudet AL. Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. American Journal of Human Genetics. 63: 1561-3. PMID 9792887 DOI: 10.1086/302120 |
0.149 |
|
1987 |
Meisler MH, Spence JE, Dixon JE, Caldwell RM, Minth CD, Beaudet AL. Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7. Cytogenetics and Cell Genetics. 44: 175-6. PMID 3568765 DOI: 10.1159/000132367 |
0.148 |
|
2018 |
Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, Seubert R, Chow J, U'ren L, Enright B, Stilwell J, Kaldjian E, Yang Y, Shaw C, Levy B, ... ... Beaudet A, et al. Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenatal Diagnosis. PMID 30357877 DOI: 10.1002/Pd.5377 |
0.148 |
|
1991 |
Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE. Additional mutations in argininosuccinate synthetase causing citrullinemia. Molecular Biology & Medicine. 8: 95-100. PMID 1943692 |
0.147 |
|
2007 |
Beaudet AL. Chromosomal Microarray Analysis Is Replacing the Karyotype in the Evaluation of Neonates Yearbook of Neonatal and Perinatal Medicine. 2007: xix-xxii. DOI: 10.1016/S8756-5005(08)70003-9 |
0.143 |
|
2022 |
Shi SQ, Mahoney CE, Houdek P, Zhao W, Anderson MP, Zhuo X, Beaudet A, Sumova A, Scammell TE, Johnson CH. Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase . Frontiers in Behavioral Neuroscience. 16: 837523. PMID 35401134 DOI: 10.3389/fnbeh.2022.837523 |
0.14 |
|
2008 |
Wu MY, Eldin KW, Beaudet AL. Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes. Journal of the National Cancer Institute. 100: 1247-59. PMID 18728284 DOI: 10.1093/jnci/djn253 |
0.138 |
|
1996 |
Bullard DC, Hurley LA, Lorenzo I, Sly LM, Beaudet AL, Staite ND. Reduced susceptibility to collagen-induced arthritis in mice deficient in intercellular adhesion molecule-1. Journal of Immunology (Baltimore, Md. : 1950). 157: 3153-8. PMID 8816427 |
0.137 |
|
2019 |
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, ... ... Beaudet A, et al. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA Obstetrical & Gynecological Survey. 74: 330-332. DOI: 10.1097/01.OGX.0000559886.06419.26 |
0.132 |
|
1986 |
Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL. Linkage of DNA markers to cystic fibrosis in 26 families. American Journal of Human Genetics. 39: 729-34. PMID 2879439 |
0.131 |
|
2021 |
Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, et al. A resource of targeted mutant mouse lines for 5,061 genes. Nature Genetics. PMID 33833456 DOI: 10.1038/s41588-021-00825-y |
0.131 |
|
1978 |
Moses RE, Beaudet AL. Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Research. 5: 463-73. PMID 634794 DOI: 10.1093/nar/5.2.463 |
0.13 |
|
1989 |
Northrup H, Rosenbloom C, O'Brien WE, Beaudet AL. Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification. Nucleic Acids Research. 17: 1784. PMID 2564190 DOI: 10.1093/nar/17.4.1784 |
0.127 |
|
1997 |
Bullard DC, King PD, Hicks MJ, Dupont B, Beaudet AL, Elkon KB. Intercellular adhesion molecule-1 deficiency protects MRL/MpJ-Fas(lpr) mice from early lethality. Journal of Immunology (Baltimore, Md. : 1950). 159: 2058-67. PMID 9257874 |
0.126 |
|
1989 |
Feldman GL, Lewiston N, Fernbach SD, O'Brien WE, Williamson R, Wainwright BJ, Beaudet AL. Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk. American Journal of Medical Genetics. 33: 238-41. PMID 2569827 DOI: 10.1002/Ajmg.1320330219 |
0.125 |
|
1999 |
Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. American Journal of Human Genetics. 65: 1-6. PMID 10364509 DOI: 10.1086/302473 |
0.123 |
|
1988 |
Jackson MJ, Allen SJ, Beaudet AL, O'Brien WE. Metabolite regulation of argininosuccinate synthetase in cultured human cells. The Journal of Biological Chemistry. 263: 16388-94. PMID 3182797 |
0.123 |
|
1997 |
Orr-Urtreger A, Göldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL. Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 9165-71. PMID 9364063 |
0.122 |
|
2024 |
Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL. Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study. Prenatal Diagnosis. PMID 38411249 DOI: 10.1002/pd.6529 |
0.12 |
|
1987 |
Wood PA, Herman GE, Chao CY, O'Brien WE, Beaudet AL. Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts. Cold Spring Harbor Symposia On Quantitative Biology. 1027-32. PMID 3472748 DOI: 10.1101/SQB.1986.051.01.118 |
0.119 |
|
1992 |
Sligh JE, Hurwitz MY, Zhu CM, Anderson DC, Beaudet AL. An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency. The Journal of Biological Chemistry. 267: 714-8. PMID 1346132 |
0.118 |
|
1999 |
Bullard DC, Mobley JM, Justen JM, Sly LM, Chosay JG, Dunn CJ, Lindsey JR, Beaudet AL, Staite ND. Acceleration and increased severity of collagen-induced arthritis in P-selectin mutant mice. Journal of Immunology (Baltimore, Md. : 1950). 163: 2844-9. PMID 10453030 |
0.114 |
|
1988 |
Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 2: 102. PMID 2898670 DOI: 10.1016/S0140-6736(88)90030-X |
0.113 |
|
1991 |
Beaudet AL, Perciaccante RG, Cutting GR. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. American Journal of Human Genetics. 48: 1213. PMID 2035541 |
0.113 |
|
1996 |
Qin L, Quinlan WM, Doyle NA, Graham L, Sligh JE, Takei F, Beaudet AL, Doerschuk CM. The roles of CD11/CD18 and ICAM-1 in acute Pseudomonas aeruginosa-induced pneumonia in mice. Journal of Immunology (Baltimore, Md. : 1950). 157: 5016-21. PMID 8943409 |
0.113 |
|
1996 |
Nakao M, Anan T, Saya H, Sutcliffe JS, Gunaratne PH, Beaudet AL. Imprinted regulation in the region of Prader-Willi and Angelman syndromes Japanese Journal of Human Genetics. 41: 84. |
0.112 |
|
2016 |
Patel A, Rosenfeld-Mokry J, Gambin T, Liu P, Bi W, Breman A, Smith J, Lalani S, Bacino C, Beaudet A, Lupski J, Shaw C, Cheung S, Stankiewicz P. Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs Cancer Genetics. 209: 239-240. DOI: 10.1016/J.CANCERGEN.2016.05.035 |
0.11 |
|
1996 |
Doerschuk CM, Quinlan WM, Doyle NA, Bullard DC, Vestweber D, Jones ML, Takei F, Ward PA, Beaudet AL. The role of P-selectin and ICAM-1 in acute lung injury as determined using blocking antibodies and mutant mice. Journal of Immunology (Baltimore, Md. : 1950). 157: 4609-14. PMID 8906840 |
0.105 |
|
1999 |
Mizgerd JP, Bullard DC, Hicks MJ, Beaudet AL, Doerschuk CM. Chronic inflammatory disease alters adhesion molecule requirements for acute neutrophil emigration in mouse skin. Journal of Immunology (Baltimore, Md. : 1950). 162: 5444-8. PMID 10228023 |
0.103 |
|
2019 |
Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, ... ... Beaudet AL, et al. Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts. Communications Biology. 2: 97. PMID 30854487 DOI: 10.1038/s42003-019-0349-y |
0.102 |
|
1996 |
Mizgerd JP, Meek BB, Kutkoski GJ, Bullard DC, Beaudet AL, Doerschuk CM. Selectins and neutrophil traffic: margination and Streptococcus pneumoniae-induced emigration in murine lungs. The Journal of Experimental Medicine. 184: 639-45. PMID 8760817 DOI: 10.1084/Jem.184.2.639 |
0.1 |
|
1978 |
Beaudet AL. Genetic diagnostic studies for mental retardation. Current Problems in Pediatrics. 8: 1-47. PMID 657833 DOI: 10.1016/S0045-9380(78)80003-6 |
0.099 |
|
1999 |
Beaudet AL. Making genomic medicine a reality American Journal of Human Genetics. 64: 1-13. DOI: 10.1086/302217 |
0.093 |
|
1986 |
Overhauser J, Beaudet AL, Wasmuth JJ. A fine structure physical map of the short arm of chromosome 5. American Journal of Human Genetics. 39: 562-72. PMID 2878609 |
0.089 |
|
1997 |
Huq AH, Lovell RS, Ou CN, Beaudet AL, Craigen WJ. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. Human Molecular Genetics. 6: 1803-9. PMID 9302256 |
0.089 |
|
1997 |
Vogel H, Beaudet AL, Billiard D. EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS IN ICAM-I DEFICIENT MICE Journal of Neuropathology and Experimental Neurology. 56: 600. DOI: 10.1097/00005072-199705000-00129 |
0.089 |
|
1981 |
Beaudet AL, Anderson DC, Michels VV, Arion WJ, Lange AJ. Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. The Journal of Pediatrics. 97: 906-10. PMID 6255119 DOI: 10.1016/S0022-3476(80)80418-5 |
0.088 |
|
2002 |
Whiteaker P, Peterson CG, Xu W, McIntosh JM, Paylor R, Beaudet AL, Collins AC, Marks MJ. Involvement of the alpha3 subunit in central nicotinic binding populations. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 2522-9. PMID 11923417 |
0.087 |
|
2007 |
Van Den Veyver IB, Simpson JL, Beaudet AL. DNA microarrays: A promising new option for prenatal diagnosis Contemporary Ob/Gyn. 52: 32-40. |
0.087 |
|
1990 |
Beaudet AL, Kazazian HH, Bowman JE, Chakravarti A, Collins FS, Davis JG, Davis PB, Desnick RJ, Elias S, Fost N, Holtzman NA, Kaback M, Klinger K, Reilly PR, Rosenstein B, et al. Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene New England Journal of Medicine. 323: 70-71. PMID 2355964 |
0.082 |
|
1993 |
Yorifuji T, Wilson RW, Beaudet AL. Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells. Human Molecular Genetics. 2: 1443-8. PMID 7902162 |
0.081 |
|
1988 |
Beaudet AL, Spence JE, Montes M, O'Brien WE, Estivill X, Farrall M, Williamson R. Experience with new DNA markers for the diagnosis of cystic fibrosis. The New England Journal of Medicine. 318: 50-1. PMID 3422103 DOI: 10.1056/NEJM198801073180114 |
0.079 |
|
2015 |
Lloyd KCK, Meehan T, Beaudet A, Murray S, Svenson K, McKerlie C, West D, Morse I, Parkinson H, Brown S, Mallon AM, Moore M. Precision medicine: Look to the mice Science. 349: 390. DOI: 10.1126/science.349.6246.390-a |
0.077 |
|
1999 |
Xu W, Orr-Urtreger A, Nigro F, Gelber S, Sutcliffe CB, Armstrong D, Patrick JW, Role LW, Beaudet AL, De Biasi M. Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 19: 9298-305. PMID 10531434 |
0.077 |
|
1982 |
Hurt MM, Beaudet AL, Moses RE. Repair of bleomycin damage in human DNA repair-deficient fibroblasts Journal of Cell Biology. 95. |
0.07 |
|
1979 |
Hatton DV, Leach CS, Beaudet AL, Dillman RO, Di Ferrante N. Collagen breakdown and ammonia inhalation. Archives of Environmental Health. 34: 83-7. PMID 434936 DOI: 10.1080/00039896.1979.10667373 |
0.067 |
|
1993 |
Scheuerle AE, McVie R, Beaudet AL, Shapira SK. Arginase deficiency presenting as cerebral palsy. Pediatrics. 91: 995-6. PMID 8474825 |
0.067 |
|
1998 |
Mizgerd JP, Horwitz BH, Bhagwan SD, Scott ML, Beaudet AL, Doerschuk CM. Compromised emigration of CD18-deficient neutrophils during LPS pneumonia in bone marrow chimera mice Faseb Journal. 12: A952. |
0.063 |
|
1981 |
Alpert AJ, Beaudet AL. Apolipoprotein C-III-1 activates lysosomal sphingomyelinase in vitro Journal of Clinical Investigation. 68: 1592-1596. PMID 6274912 DOI: 10.1172/JCI110414 |
0.06 |
|
1995 |
King PD, Sandberg ET, Selvakumar A, Fang P, Beaudet AL, Dupont B. Novel isoforms of murine intercellular adhesion molecule-1 generated by alternative RNA splicing. Journal of Immunology (Baltimore, Md. : 1950). 154: 6080-93. PMID 7751650 |
0.052 |
|
1986 |
Cagle PT, Ferry GD, Beaudet AL, Hawkins EP. Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD) American Journal of Medical Genetics. 24: 711-22. PMID 3740103 DOI: 10.1002/ajmg.1320240416 |
0.05 |
|
1992 |
Beaudet AL, O'Brien WE. Advantages of a two-step laboratory approach for cystic fibrosis carrier screening. American Journal of Human Genetics. 50: 439-40. PMID 1734724 |
0.05 |
|
2002 |
Zhou H, Pastore L, Beaudet AL. Helper-dependent adenoviral vectors. Methods in Enzymology. 346: 177-98. PMID 11883068 DOI: 10.1016/S0076-6879(02)46056-9 |
0.044 |
|
1987 |
Northrup H, Beaudet AL, O'Brien WE, Herman GE, Lewis RA, Pollack MS. Linkage of tuberous sclerosis to ABO blood group. Lancet. 2: 804-5. PMID 2889024 DOI: 10.1016/S0140-6736(87)92543-8 |
0.044 |
|
1990 |
Beaudet AL. Carrier screening for cystic fibrosis. American Journal of Human Genetics. 47: 603-5. PMID 2220802 |
0.04 |
|
1983 |
Michels VV, Potts E, Walser M, Beaudet AL. Ornithine transcarbamylase deficiency: long-term survival. Clinical Genetics. 22: 211-4. PMID 7151305 DOI: 10.1111/j.1399-0004.1982.tb01435.x |
0.038 |
|
1998 |
Jung U, Norman KE, Ramos CL, Collins R, Beaudet AL, Ley K. The role of CD18 and E-selectin in leukocyte recruitment in response to TNF-α Faseb Journal. 12: A776. |
0.036 |
|
1990 |
Fujimura FK, Northrup H, Beaudet AL, O'Brien WE. Genotyping errors with the polymerase chain reaction. The New England Journal of Medicine. 322: 61. PMID 2294422 DOI: 10.1056/NEJM199001043220117 |
0.035 |
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2004 |
Beaudet AL. Complex imprinting. Nature Genetics. 36: 793-5. PMID 15284847 DOI: 10.1038/ng0804-793 |
0.035 |
|
1978 |
Alter BP, Beaudet AL, Scott CI. 504 REGULATION OF GLOBIN CHAIN SYNTHESIS IN NEONATES Pediatric Research. 12: 447-447. DOI: 10.1203/00006450-197804001-00509 |
0.034 |
|
1976 |
Murphree AL, Beaudet AL, Palmer EA, Nichols BL. Cataract in mannosidosis Birth Defects: Original Article Series. 12: 319-334. PMID 953197 |
0.032 |
|
2008 |
Fanella S, Embree J, Arora B, Goel S, Goel S, Probst FJ, Patel A, Beaudet AL. Index of suspicion. Pediatrics in Review / American Academy of Pediatrics. 29: 281-7. PMID 18676580 DOI: 10.1542/pir.29-8-281 |
0.011 |
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2022 |
Beaudet AL, Gibbs RA. C. Thomas Caskey, M.D. (1938-2022): A remembrance. American Journal of Human Genetics. 109: 1185-1189. PMID 35803231 DOI: 10.1016/j.ajhg.2022.05.012 |
0.01 |
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2013 |
Beaudet A. QnAs with Arthur Beaudet. Proceedings of the National Academy of Sciences of the United States of America. 110: 12160-1. PMID 23858434 DOI: 10.1073/pnas.1311373110 |
0.01 |
|
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