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Clinical Whole Exome Sequencing For the Evaluation of Genetic Disorders - Christine Eng MD
Clinical Whole Exome Sequencing For the Evaluation of Genetic Disorders  
2013 SERC-SERGG Annual Conference
Renaissance Asheville Hotel
Asheville, NC  
Date
July 19th, 2013
Length
00:44:08

About the Presentation
Dr. Eng presents on whole exome sequencing.

Selected Publications by the Presenter
  1. 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, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM (2013). Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. N. Engl. J. Med. [Epub ahead of print] PubMed PMID: 24088041
  2. Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G (2013). Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum. Mutat. 34(2): 385-94. PubMed PMID: 23161826
  3. 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, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367(23): 2175-84. PubMed PMID: 23215555
  4. Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM (2008). Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet. Med. 10(1): 13-8. PubMed PMID: 18197052
  5. 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 (2006). Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet. Med. 8(11): 719-27. PubMed PMID: 17108764
  6. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR (2006). Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet. Med. 8(9): 539-48. PubMed PMID: 16980809
  7. Eng CM, Guffon N, Wilcox W, Germain D, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ (2001). Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N. Engl. J. Med. 345(1): 9-16. PubMed PMID: 11439963
  8. Eng CM, Banikazemi M, Gordon R, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Brodie S, Mehta D, Desnick RJ (2001). A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Safety, pharmacokinetics, and substrate clearance studies. Am. J. Hum. Genet. 68(3): 711-22. PubMed PMID: 11179018
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