Beaudet AL - Search Results

1

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

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. Dharmadhikari AV, et al. Among authors: al masri s, beaudet al. Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5. Genome Med. 2019. PMID: 31101064 Free PMC article.

2

Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.

Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Eng CM, et al. Among authors: beaudet al. Genomics. 1992 Nov;14(3):813-5. doi: 10.1016/s0888-7543(05)80196-x. Genomics. 1992. PMID: 1294119

3

Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.

Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Eng CM, et al. Among authors: beaudet al. Genomics. 1991 Feb;9(2):278-82. doi: 10.1016/0888-7543(91)90253-b. Genomics. 1991. PMID: 2004777

4

Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.

Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL. Huq AH, et al. Among authors: beaudet al. Genome Res. 1997 Jun;7(6):642-8. doi: 10.1101/gr.7.6.642. Genome Res. 1997. PMID: 9199937 Free PMC article.

5

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: beaudet al. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

6

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Shaw CJ, et al. Among authors: beaudet al. J Med Genet. 2004 Feb;41(2):113-9. doi: 10.1136/jmg.2003.012831. J Med Genet. 2004. PMID: 14757858 Free PMC article.

7

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Peters SU, et al. Among authors: beaudet al. Am J Med Genet A. 2004 Jul 15;128A(2):110-3. doi: 10.1002/ajmg.a.30065. Am J Med Genet A. 2004. PMID: 15213998

8

Autism in Angelman syndrome: implications for autism research.

Peters SU, Beaudet AL, Madduri N, Bacino CA. Peters SU, et al. Among authors: beaudet al. Clin Genet. 2004 Dec;66(6):530-6. doi: 10.1111/j.1399-0004.2004.00362.x. Clin Genet. 2004. PMID: 15521981

9

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: beaudet al. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

10

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Sahoo T, et al. Among authors: beaudet al. J Med Genet. 2006 Jun;43(6):512-6. doi: 10.1136/jmg.2005.036913. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183798 Free PMC article.

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