Eng CM - Search Results

1

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

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, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Lalani SR, et al. Among authors: eng cm. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439098 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. 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. Genomics. 1991 Feb;9(2):278-82. doi: 10.1016/0888-7543(91)90253-b. Genomics. 1991. PMID: 2004777

4

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

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. Sahoo T, et al. Among authors: eng cm. Genet Med. 2006 Nov;8(11):719-27. doi: 10.1097/01.gim.0000245576.47154.63. Genet Med. 2006. PMID: 17108764 Free article.

5

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

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. del Gaudio D, et al. Among authors: eng cm. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.

6

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.

Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Darilek S, et al. Among authors: eng cm. Genet Med. 2008 Jan;10(1):13-8. doi: 10.1097/GIM.0b013e31815f1ddb. Genet Med. 2008. PMID: 18197052 Free article. Review.

7

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. del Gaudio D, et al. Among authors: eng cm. Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841. Hum Mutat. 2008. PMID: 18752307

8

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

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. Van den Veyver IB, et al. Among authors: eng cm. Prenat Diagn. 2009 Jan;29(1):29-39. doi: 10.1002/pd.2127. Prenat Diagn. 2009. PMID: 19012303 Free PMC article.

9

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D. Oshima J, et al. Among authors: eng cm. Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16. Hum Genet. 2009. PMID: 19449031

10

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D. Oshima J, et al. Among authors: eng cm. J Hum Genet. 2011 Jul;56(7):516-23. doi: 10.1038/jhg.2011.51. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593745

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