Clinical whole exome sequencing in child neurology practice

Annals of Neurology

Volumn 76, Issue 4, 2014, Pages 473-483

  Srivastava, Siddharth ^a   Cohen, Julie S ^a   Vernon, Hilary ^b   Barañano, Kristin ^a,b   McClellan, Rebecca ^a   Jamal, Leila ^a   Naidu, SakkuBai ^a,b   Fatemi, Ali ^a,b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CHILD; COHORT ANALYSIS; DEVELOPMENTAL DISABILITIES; DNA SEQUENCE; EXOME; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; MALE; NERVOUS SYSTEM DISEASES; PEDIATRICS; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; NERVOUS SYSTEM DISEASES; PEDIATRICS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84907851830     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24251     Document Type: Article

References (23)

1. Ropers H-H. On the future of genetic risk assessment. J Community Genet 2012;3:229-236.
2. Gahl WA, Markello TC, Toro C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2012;14:51-59.
3. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-276.
4. ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012;14:759-761.
5. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012;380:1674-1682.
6. O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011;43:585-589.
7. Yu TW, Chahrour MH, Coulter ME, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013;77:259-273.
8. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
9. Renbaum P, Kellerman E, Jaron R, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 2009;85:281-289.
10. De Ligt J, Willemsen MH, van Bon BWM, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-1929.
11. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369:1502-1511.
12. Atwal PS, Brennan M-L, Cox R, et al. Clinical whole-exome sequencing: are we there yet? Genet Med 2014 Feb 13. doi:10.1038.
13. Dixon-Salazar TJ, Silhavy JL, Udpa N, et al. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 2012;4:138ra78.
14. Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, et al. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-221.
15. Flore LA, Milunsky JM. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol 2012;19:173-180.
16. Moeschler JB. Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 2008;15:2-9.
17. Willemsen MH, Kleefstra T. Making headway with genetic diagnostics of intellectual disabilities. Clin Genet 2014;85:101-110.
18. Stessman HA, Bernier R, Eichler EE. A genotype-first approach to defining the subtypes of a complex disease. Cell 2014;156:872-877.
19. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
20. Hufnagel SB, Antommaria AH. Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG's recommendations. Am J Med Genet A 2014;164A:1328-1331.
21. ACMG Board of Directors. Points to consider for informed consent for genome/exome sequencing. Genet Med 2013;15:748-749.
22. Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011;478:57-63.
23. De Munnik SA, García-Miñaúr S, Hoischen A, et al. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet 2014;22:844-846.