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Last Name
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Arthur L. Beaudet

TitleDistinguished Service Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Cellular Biology
    DivisionMolecular & Cellular Biology

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Administration


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    T32GM007526     (LEE, BRENDAN)Sep 30, 1978 - Jun 30, 2023
    NIH/NIGMS
    Medical Genetics Research Fellowship Program
    Role: Co-Principal Investigator

    R01GM027593     (BEAUDET, ARTHUR L.)Apr 1, 1981 - Mar 31, 1989
    NIH/NIGMS
    REGULATION OF ARGININOSUCCINATE SYNTHETASE
    Role: Principal Investigator

    R01AM031861     (BEAUDET, ARTHUR L.)Jul 1, 1983 - Jun 30, 1986
    NIH/NIADDK
    MEDICAL GENETIC APPLICATIONS OF A LIVER CDNA LIBRARY
    Role: Principal Investigator

    R01DK039617     (BEAUDET, ARTHUR L.)Jan 1, 1988 - Mar 31, 1991
    NIH/NIDDK
    MOLECULAR STUDIES OF CYSTIC FIBROSIS
    Role: Principal Investigator

    R01AI032177     (BEAUDET, ARTHUR L.)Jul 1, 1991 - Dec 31, 1996
    NIH/NIAID
    MUTANTS FOR CELL ADHESION MOLECULES
    Role: Principal Investigator

    R37AI032177     (BEAUDET, ARTHUR L.)Jul 1, 1991 - Jan 31, 2007
    NIH/NIAID
    Mutants for Cell Adhesion Molecules
    Role: Principal Investigator

    P01HL051754     (BEAUDET, ARTHUR L.)Sep 30, 1993 - Aug 31, 1998
    NIH/NHLBI
    SOMATIC GENE THERAPY FOR CYSTIC FIBROSIS
    Role: Principal Investigator

    R13HD031136     (BEAUDET, ARTHUR L.)Feb 1, 1994 - Jan 31, 1995
    NIH/NICHD
    GENES IN DEVELOPMENT AND CANCER
    Role: Principal Investigator

    R10HL052637     (BEAUDET, ARTHUR L.)Jul 20, 1994 - May 31, 1999
    NIH/NHLBI
    DELIVERY OF ANTIOXIDANT GENES TO PREMATURE LUNG
    Role: Principal Investigator

    U10HL052637     (BEAUDET, ARTHUR L.)Jul 20, 1994 - May 31, 1999
    NIH/NHLBI
    DELIVERY OF ANTIOXIDANT GENES TO PREMATURE LUNG
    Role: Principal Investigator

    R01HD037283     (BEAUDET, ARTHUR L.)Jan 1, 1999 - May 31, 2015
    NIH/NICHD
    Human neurobehavioral phenotypes associates with the extended PWS/AS domain
    Role: Principal Investigator

    U54RR019478     (BEAUDET, ARTHUR L.)Sep 30, 2003 - Jul 31, 2009
    NIH/NCRR
    Rare disease CRC for new therapies and new diagnostics
    Role: Principal Investigator

    R01HD055651     (WAPNER, RONALD)Jun 8, 2007 - Aug 31, 2023
    NIH/NICHD
    Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation
    Role: Co-Principal Investigator

    U01DA025956     (MILOSAVLJEVIC, ALEKSANDAR)Sep 20, 2008 - Jul 31, 2014
    NIH/NIDA
    Epigenomics Data Analysis and Coordination Center at Baylor College of Medicine
    Role: Co-Principal Investigator

    U42OD011174     (BEAUDET, ARTHUR L.)Sep 1, 2011 - Jul 31, 2016
    NIH
    Consortium for large-scale production and cryopreservation of knockout mice
    Role: Principal Investigator

    U54HG006348     (BEAUDET, ARTHUR L.)Sep 16, 2011 - Jul 31, 2016
    NIH/NHGRI
    Consortium for Broad Based Disease Phenotyping of Knockout Mice
    Role: Principal Investigator

    UM1HG006348     (DICKINSON, MARY E)Sep 28, 2011 - Aug 31, 2021
    NIH/NHGRI
    Consortium for large-scale production and phenotyping of knockout mice (UM1)
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. 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, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405.
      View in: PubMed
    2. 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, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30. PMID: 31101064.
      View in: PubMed
    3. 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, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Apr; 25(4):701-702. PMID: 30787481.
      View in: PubMed
    4. 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, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019 Apr 04; 104(4):685-700. PMID: 30929737.
      View in: PubMed
    5. 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, Herault Y, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Kent Lloyd KC, Murphy CJ, Moshiri A. Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun Biol. 2019; 2:97. PMID: 30854487.
      View in: PubMed
    6. 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. Glob Pediatr Health. 2019; 6:2333794X19830696. PMID: 30815516.
      View in: PubMed
    7. 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, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 Mar 07; 104(3):422-438. PMID: 30773277.
      View in: PubMed
    8. 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, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447. PMID: 30692697.
      View in: PubMed
    9. 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, Herault Y, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A. Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun Biol. 2018; 1:236. PMID: 30588515.
      View in: PubMed
    10. 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. J Hum Genet. 2019 Mar; 64(3):253-255. PMID: 30542208.
      View in: PubMed
    11. 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, Wapner R, Breman A, Van den Veyver I, Beaudet A. Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018 12; 38(13):1069-1078. PMID: 30357877.
      View in: PubMed
    12. 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, Westenskow PD, Yamamoto S, Seavitt JR, Beaudet AL, Dickinson ME, Samuel MA. Rapid and Integrative Discovery of Retina Regulatory Molecules. Cell Rep. 2018 08 28; 24(9):2506-2519. PMID: 30157441.
      View in: PubMed
    13. 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 Biol. 2018 06 21; 16(1):69. PMID: 29925370.
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    14. Beaudet AL. 2017 Victor A. McKusick Leadership Award. Am J Hum Genet. 2018 Mar 01; 102(3):361-363. PMID: 29499163.
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    15. 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, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M. Identification of genetic elements in metabolism by high-throughput mouse phenotyping. Nat Commun. 2018 01 18; 9(1):288. PMID: 29348434.
      View in: PubMed
    16. 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, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083.
      View in: PubMed
    17. 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, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 2017 11 16; 551(7680):398. PMID: 29144450.
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    18. 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, Kelsey L, Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nat Commun. 2017 10 12; 8(1):886. PMID: 29026089.
      View in: PubMed
    19. 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, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986.
      View in: PubMed
    20. Beaudet AL. Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. Bioessays. 2017 08; 39(8). PMID: 28703319.
      View in: PubMed
    21. 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, Greenaway S, Sneddon D, Morgan H, Codner GF, Stewart ME, Brown J, Horner N, Haendel M, Washington N, Mungall CJ, Reynolds CL, Gallegos J, Gailus-Durner V, Sorg T, Pavlovic G, Bower LR, Moore M, Morse I, Gao X, Tocchini-Valentini GP, Obata Y, Cho SY, Seong JK, Seavitt J, Beaudet AL, Dickinson ME, Herault Y, Wurst W, de Angelis MH, Lloyd KCK, Flenniken AM, Nutter LMJ, Newbigging S, McKerlie C, Justice MJ, Murray SA, Svenson KL, Braun RE, White JK, Bradley A, Flicek P, Wells S, Skarnes WC, Adams DJ, Parkinson H, Mallon AM, Brown SDM, Smedley D. Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nat Genet. 2017 Aug; 49(8):1231-1238. PMID: 28650483.
      View in: PubMed
    22. 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, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL, Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK. Prevalence of sexual dimorphism in mammalian phenotypic traits. Nat Commun. 2017 06 26; 8:15475. PMID: 28650954.
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    23. 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, Tibboel D, Hofstra RMW, Alves MM. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 06; 101(1):123-129. PMID: 28602422.
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    24. 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, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206.
      View in: PubMed
    25. Beaudet AL. 2016 Curt Stern Award Introduction: Brendan Lee. Am J Hum Genet. 2017 Mar 02; 100(3):395-396. PMID: 28257686.
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    26. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648. PMID: 27980096.
      View in: PubMed
    27. 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, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. 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. Genet Med. 2017 08; 19(8):936-944. PMID: 28125085.
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    28. 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, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697.
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    29. Beaudet AL. Darwin Comes to Clinic. Trends Genet. 2017 01; 33(1):1-2. PMID: 27908673.
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    30. Kølvraa S, Singh R, Normand EA, Qdaisat S, van den Veyver 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. Prenat Diagn. 2016 Dec; 36(12):1127-1134. PMID: 27761919.
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    31. 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, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov; 36(11):1009-1019. PMID: 27616633.
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    32. 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. Dev Biol. 2016 11 15; 419(2):229-236. PMID: 27671873.
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    33. 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, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M, Murray SA. High-throughput discovery of novel developmental phenotypes. Nature. 2016 09 22; 537(7621):508-514. PMID: 27626380.
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    34. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, 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. J Inherit Metab Dis. 2016 09; 39(5):757. PMID: 27225280.
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    35. 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. Am J Perinatol. 2017 03; 34(4):340-348. PMID: 27533100.
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    100. 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. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. PMID: 20635355.
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    101. Beaudet AL. Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice. Genome Med. 2010 Jul 17; 2(7):42. PMID: 20642868.
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    102. 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, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50. PMID: 20506139.
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    103. 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, Lee B. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J Clin Invest. 2010 Jul; 120(7):2474-85. PMID: 20530870.
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    104. 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, Kooros K, Kushak R, Levitt P, Levy SE, Lewis JD, Murray KF, Natowicz MR, Sabra A, Wershil BK, Weston SC, Zeltzer L, Winter H. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 2010 Jan; 125 Suppl 1:S1-18. PMID: 20048083.
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    105. 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, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906.
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    106. 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. Nat Genet. 2009 Dec; 41(12):1269-71. PMID: 19898479.
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    107. 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 Res. 2009 Aug; 19(8):1374-83. PMID: 19542493.
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    108. 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 Res. 2009 Apr; 2(2):98-108. PMID: 19455642.
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    109. 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. J Mol Diagn. 2009 May; 11(3):226-37. PMID: 19324990.
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    110. 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, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77. PMID: 19136950.
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    111. 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. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303.
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    112. Ogilvie CM, Yaron Y, Beaudet AL. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn. 2009 Jan; 29(1):11-4. PMID: 19012273.
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    113. 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. Mol Ther. 2009 Feb; 17(2):327-33. PMID: 19050700.
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    114. 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. 2008 Dec; 122(6):1310-8. PMID: 19047251.
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    115. 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. Prenat Diagn. 2008 Oct; 28(10):943-9. PMID: 18792925.
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    116. Wu MY, Eldin KW, Beaudet AL. Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes. J Natl Cancer Inst. 2008 Sep 03; 100(17):1247-59. PMID: 18728284.
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    117. 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. Nat Genet. 2008 Jun; 40(6):719-21. PMID: 18500341.
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    118. Beaudet AL. Allan Award lecture: Rare patients leading to epigenetics and back to genetics. Am J Hum Genet. 2008 May; 82(5):1034-8. PMID: 18468009.
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    119. Beaudet AL. Epigenetics and complex human disease: is there a role in IBD? J Pediatr Gastroenterol Nutr. 2008 Apr; 46 Suppl 1:E2. PMID: 18354324.
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    120. 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. Genet Med. 2008 Apr; 10(4):278-89. PMID: 18414211.
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    121. 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. 2008 Jan 28; 9:50. PMID: 18226259.
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    122. Beaudet AL, Belmont JW. Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008; 59:113-29. PMID: 17961075.
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    123. 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. Hum Mol Genet. 2008 Jan 01; 17(1):111-8. PMID: 17940072.
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    124. Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med. 2007 Sep; 9(9):654-62. PMID: 17873655.
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    125. 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, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. PMID: 17607705.
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    126. 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, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. PMID: 17666889.
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    127. 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. Eur J Hum Genet. 2007 Sep; 15(9):943-9. PMID: 17522620.
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    128. Beaudet AL. Autism: highly heritable but not inherited. Nat Med. 2007 May; 13(5):534-6. PMID: 17479094.
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    129. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007 Jun; 17(3):182-92. PMID: 17467974.
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    130. 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, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327. PMID: 17389918.
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    131. 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. Mol Ther. 2007 Apr; 15(4):732-40. PMID: 17285138.
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    132. 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. J Immunol. 2007 Jan 15; 178(2):851-7. PMID: 17202346.
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    133. 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, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
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    134. 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, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
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    135. 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 Dev. 2006 Oct 15; 20(20):2859-70. PMID: 17043311.
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    136. 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. J Pediatr. 2006 Aug; 149(2):192-8. PMID: 16887432.
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    137. 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. Hum Gene Ther. 2006 Apr; 17(4):391-404. PMID: 16610927.
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    138. Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol. 2006 Apr; 18(2):185-91. PMID: 16601480.
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    139. 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. Am J Med Genet A. 2006 Mar 01; 140(5):413-8. PMID: 16470747.
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    140. Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, Beaudet AL. Mouse imprinting defect mutations that model Angelman syndrome. Genesis. 2006 Jan; 44(1):12-22. PMID: 16397868.
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    141. 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. Am J Med Genet A. 2005 Dec 01; 139A(2):106-13. PMID: 16284940.
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    142. 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. Am J Physiol Lung Cell Mol Physiol. 2005 Dec; 289(6):L1123-30. PMID: 16085675.
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    143. 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. Genet Med. 2005 Jul-Aug; 7(6):422-32. PMID: 16024975.
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    144. 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. Mol Ther. 2005 Jul; 12(1):99-106. PMID: 15963925.
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    145. 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. Hum Gene Ther. 2005 Jul; 16(7):811-20. PMID: 16000063.
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    146. 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. Ann Neurol. 2005 Apr; 57(4):557-60. PMID: 15786446.
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    147. 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. J Neurosci. 2005 Mar 23; 25(12):3041-5. PMID: 15788760.
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    148. 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. Proc Natl Acad Sci U S A. 2005 Mar 15; 102(11):3930-5. PMID: 15753292.
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    149. 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. Am J Pathol. 2005 Feb; 166(2):597-613. PMID: 15681842.
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    150. 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. 2005 Feb; 6(1):37-44. PMID: 15742216.
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    151. 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. Mol Ther. 2004 Sep; 10(3):492-9. PMID: 15336649.
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    152. Jiang YH, Beaudet AL. Human disorders of ubiquitination and proteasomal degradation. Curr Opin Pediatr. 2004 Aug; 16(4):419-26. PMID: 15273504.
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    153. Beaudet AL. Complex imprinting. Nat Genet. 2004 Aug; 36(8):793-5. PMID: 15284847.
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    154. Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004 Jul 15; 128A(2):110-3. PMID: 15213998.
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    155. 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. Obes Res. 2004 Jun; 12(6):936-40. PMID: 15229332.
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    156. 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. Physiol Genomics. 2004 Apr 13; 17(2):221-9. PMID: 14996991.
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    157. 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. Exp Cell Res. 2004 Apr 01; 294(2):534-49. PMID: 15023540.
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    158. 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. 2004 Mar 03; 327(2):153-60. PMID: 14980712.
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    159. 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. Hum Gene Ther. 2004 Jan; 15(1):35-46. PMID: 14965376.
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    160. Jiang YH, Bressler J, Beaudet AL. Epigenetics and human disease. Annu Rev Genomics Hum Genet. 2004; 5:479-510. PMID: 15485357.
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    161. Tsai TF, Bressler J, Jiang YH, Beaudet AL. Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis. 2003 Dec; 37(4):151-61. PMID: 14666508.
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    162. 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. J Immunol. 2003 Dec 01; 171(11):6105-11. PMID: 14634125.
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    163. 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. Nat Med. 2003 Oct; 9(10):1281-6. PMID: 14502280.
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    164. 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. Hum Mol Genet. 2003 Sep 01; 12(17):2145-52. PMID: 12915473.
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    165. 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. 2003 Jun 03; 107(21):2726-32. PMID: 12742997.
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    166. 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. Mol Pharmacol. 2003 May; 63(5):1059-66. PMID: 12695534.
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    167. 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. Mol Ther. 2003 May; 7(5 Pt 1):649-58. PMID: 12718908.
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    168. 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. J Neurosci. 2003 Apr 01; 23(7):2634-44. PMID: 12684449.
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    169. 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. Lab Invest. 2003 Feb; 83(2):207-25. PMID: 12594236.
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    170. 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. 2003 Feb 01; 306(1):87-99. PMID: 12620801.
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    171. 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. Hum Mol Genet. 2002 Dec 15; 11(26):3257-65. PMID: 12471052.
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    172. 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. Clin Chem. 2002 Nov; 48(11):1913-8. PMID: 12406975.
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    173. 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. J Clin Microbiol. 2002 Oct; 40(10):3565-71. PMID: 12354847.
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    174. Beaudet AL. Is medical genetics neglecting epigenetics? Genet Med. 2002 Sep-Oct; 4(5):399-402. PMID: 12394355.
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    175. Zhou HS, Zhao T, Rao XM, Beaudet AL. Production of helper-dependent adenovirus vector relies on helper virus structure and complementing. J Gene Med. 2002 Sep-Oct; 4(5):498-509. PMID: 12221643.
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    176. Tsai TF, Chen KS, Weber JS, Justice MJ, Beaudet AL. Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Hum Mol Genet. 2002 Jul 01; 11(14):1659-68. PMID: 12075010.
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    177. Beaudet AL, Jiang YH. A rheostat model for a rapid and reversible form of imprinting-dependent evolution. Am J Hum Genet. 2002 Jun; 70(6):1389-97. PMID: 11992247.
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    178. 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. J Neurosci. 2002 Apr 01; 22(7):2522-9. PMID: 11923417.
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    179. Toietta G, Pastore L, Cerullo V, Finegold M, Beaudet AL, Lee B. Generation of helper-dependent adenoviral vectors by homologous recombination. Mol Ther. 2002 Feb; 5(2):204-10. PMID: 11829528.
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    180. 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. 2002 Jan 01; 99(1):336-41. PMID: 11756189.
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    181. 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. Mol Cell Biol. 2002 Jan; 22(2):525-35. PMID: 11756548.
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    182. 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. Hum Gene Ther. 2002 Jan 01; 13(1):143-54. PMID: 11779418.
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    183. Zhou H, Pastore L, Beaudet AL. Helper-dependent adenoviral vectors. Methods Enzymol. 2002; 346:177-98. PMID: 11883068.
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