Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders

Author:

AKGUN-DOGAN Ozlem,AĞAOĞLU Nihat Buğra,ALANAY Yasemin

Publisher

Gumushane University

Subject

General Medicine

Reference19 articles.

1. United Nations Inter-agency Group for Child Mortality Estimation (UN IGME). (2017). “Levels and Trends in Child Mortality: Report 2017”. https://www.un.org/en/development/ desa/population/publications/mortality/child-mortality-report-2017.asp New York: United Nations Children’s Fund.

2. Robson, S.C, Chitty, L.S, Morris, S, Verhoef, T, Ambler, G, Wellesley, D.G, Graham, R, Leader, C, Fisher, J. and Crolla, J.A. (2017). “Evaluation of Array Comparative Genomic Hybridisation in Prenatal Diagnosis Of Fetal Anomalies: A Multicentre Cohort Study With Cost Analysis And Assessment of Patient, Health Professional and Commissioner Preferences for Array Comparative Genomic Hybridisation”. Effic Mech Eval., 4, 1–104.

3. Hillman, S.C, Pretlove, S, Coomarasamy, A, McMullan, D.J, Davison, E.V, Maher, E.R. and Kilby, M.D. (2011). “Additional Information From Array Comparative Genomic Hybridization Technology Over Conventional Karyotyping In Prenatal Diagnosis: A Systematic Review and Meta-Analysis”. Ultrasound Obstet Gynecol., 37, 6–14

4. Yang, Y, Muzny, D.M, Reid, J.G, Bainbridge, M.N, Willis, A, Ward, P.A, Braxton, A, Beuten, J, Xia, F, Niu, Z, Hardison, M, Person, R, Bekheirnia, M.R, Leduc, M.S, Kirby, A, Pham, P, Scull, J, Wang, M, Ding, Y, Plon, S.E, Lupski, J.R, Beaudet, A.L, Gibbs, R.A. and Eng, C.M. (2013). “Clinical Whole-Exome Sequencing for The Diagnosis of Mendelian Disorders”. N Engl J Med., 369 (16), 1502-1511.

5. Lee, H, Deignan, J.L, Dorrani, N, Strom, S.P, Kantarci, S, Quintero-Rivera, F, Das, K, Toy, T, Harry, B, Yourshaw, M, Fox, M, Fogel, B.L, Martinez-Agosto, J.A, Wong, D.A, Chang, V.Y, Shieh, P.B, Palmer, C.G, Dipple, K.M, Grody, W.W, Vilain, E. and Nelson, S.F. (2014). “Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders”. JAMA, 312 (18), 1880-1887.

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