Dysmorphology at a distance: Results of a web-based diagnostic service

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 327-332

  Douzgou, S ^a   Clayton Smith, J ^a   Gardner, S ^a   Day, R ^a   Griffiths, P ^a   Strong, K ^a  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

clinical genetics; digital service; dysmorphic syndrome

Indexed keywords

BODY DYSMORPHIC DISORDERS; DATABASES, GENETIC; EUROPE; GENETIC TESTING; HUMANS; INFORMATION DISSEMINATION; INTERNET; RARE DISEASES;

EID: 84894324437     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.137     Document Type: Article

References (17)

1. Mathews TJ, MacDorman MF: Infant mortality statistics from the 2003 period linked birth/infant death data set. Natl Vital Stat Rep 2006; 54: 1-29.
2. McCandless SE, Brunger JW, Cassidy SB: The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 2004; 74: 121-127, (Erratum in: Am J Hum Genet. 2004; 74: 788).
3. Moeschler JB, Shevell MThe American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117: 2304-2316.
4. DYSCERNE s. www.dyscerne.org Accessed on 13 November 2012.
5. London Medical Databases. Winter-Baraitser Dysmorphology Database. www.lmdatabases. com Accessed on 15 April 2013.
6. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R et al: The E3 ubiquitin ligase UBE3B is mutated in an autosomal-recessive blepharophimosis- intellectual disability syndrome. Abstract: 15th Manchester Dysmorphology Conference 2012.
7. Johns Hopkins University and National Center for Biotechnology Information. Online Mendelian Inheritance in ManTM. www.ncbi.nlm.nih.gov/omim Accessed on 15 April 2013.
8. Orphanet s. www.orpha.net Accessed on 15 April 2013.
9. POSSUM. Pictures of Standard Syndromes and Undiagnosed Malformations. www.possum. net.au Accessed on 15 April 2013.
10. Reardon W, Donnai D: Dysmorphology demystified. Arch Dis Child Fetal Neonatal Ed 2007; 92: F225-F229.
11. Editorial. Can we all just get along? Nat Genet 2012; 44: 833.
12. Harris R, Reid M: Medical genetic services in 31 countries: an overview. Eur J Hum Genet 1997; 5(Suppl 2): 3-21.
13. Zimmern RL, Khoury MJ: The impact of genomics on public health practice: the case for change. Public Health Genomics 2012; 15: 118-124.
14. Lu X, Shaw CA, Patel A et al: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2007; 2: e327.
15. 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.
16. Dentici ML, Tarani L, Digilio MC et al: RDDR: a dysmorphology diagnostic network for newborns in central Italy. J Matern Fetal Neonatal Med 2012; 25(Suppl 4): 121-123.
17. Donnai D: Genetic services. Clin Genet 2002; 61: 1-6.