Christine M. Eng, MD




ABMG Certified Clinical Molecular Geneticist

 

POSITIONS

BA from Yale University
01/1978 - New Haven, CT, United States

MD from Tulane University
01/1983 - New Orleans, LA, United States

EDUCATION

Clinical Molecular Genetics
American Board of Medical Genetics

General Pediatrics
American Board of Pediatrics

PROFESSIONAL INTERESTS

• Genetic testing for inherited diseases
• Natural history, molecular genetics, and treatment of lysosomal storage disorders

SELECTED PUBLICATIONS

• 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. "Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders.." N Engl J Med.. 2013;369(16):1502-11. Pubmed PMID: 24088041
• 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, Maj. "Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.." Hum. Mutat.. 2013 February;34(2):385-94. Pubmed PMID: 23161826
• 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. "Chromosomal microarray versus karyotyping for prenatal diagnosis.." N. Engl. J. Med.. 2012 December 6;367(23):2175-84. Pubmed PMID: 23215555
• Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. "Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.." Genet. Med.. 2008 January;10(1):13-8. Pubmed PMID: 18197052
• 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 November;8(11):719-27. Pubmed PMID: 17108764
• 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. "Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.." Genet. Med.. 2006 September;8(9):539-48. Pubmed PMID: 16980809
• Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. "Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.." Am. J. Hematol.. 2013 March;88(3):172-8. Pubmed PMID: 23339116
• Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Conway AM, Kimura A. "A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).." Genet. Med.. 2006 August;8(8):465-73. Pubmed PMID: 16912578