Digenic inheritance and Mendelian disease

Nature Genetics

Volumn 44, Issue 12, 2012, Pages 1291-1292

  Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; PERIPHERIN;

APOPTOSIS; AUTOSOMAL DOMINANT INHERITANCE; BARDET BIEDL SYNDROME; CHROMOSOME 10; CHROMOSOME 4; COPY NUMBER VARIATION; DIGENIC INHERITANCE; DNA METHYLATION; EPIGENETICS; EXOME; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 2; GENE; GENE DELETION; GENE EXPRESSION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GERM LINE; HAPLOTYPE; HETEROCHROMATIN; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PENETRANCE; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT SURVEY; STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN CONTAINING 1 GENE; TRANSGENE; X CHROMOSOME INACTIVATION;

EPIGENESIS, GENETIC; GENETIC DISEASES, INBORN; HUMANS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL;

EID: 84870507885     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2479     Document Type: Short Survey

References (15)

1. Lemmers, R.J.L.F. et al. Nat. Genet. 44, 1370-1374 (2012).
2. van der Maarel, S.M., Tawil, R. & Tapscott, S.J. Trends Mol. Med. 17, 252-258 (2011).
3. Blewitt, M.E. et al. Proc. Natl. Acad. Sci. USA 102, 7629-7634 (2005).
4. Kajiwara, K., Berson, E.L. & Dryja, T.P. Science 264, 1604-1608 (1994).
5. Loewen, C.J., Moritz, O.L. & Molday, R.S. J. Biol. Chem. 276, 22388-22396 (2001).
6. Katsanis, N. et al. Science 293, 2256-2259 (2001).
7. Davis, E.E. et al. Nat. Genet. 43, 189-196 (2011).
8. Potocki, L. et al. Am. J. Hum. Genet. 64, 471-478 (1999).
9. El-Hattab, A.W. et al. Genet. Med. 12, 573-586 (2010).
10. Girirajan, S. et al. Nat. Genet. 42, 203-209 (2010).
11. Albers, C.A. et al. Nat. Genet. 44, 435-439 (2012).
12. Marth, G.T. et al. Genome Biol. 12, R84 (2011).
13. Lupski, J.R., Belmont, J.W., Boerwinkle, E. & Gibbs, R.A. Cell 147, 32-43 (2011).
14. Girirajan, S. et al. N. Engl. J. Med. 367, 1321-1331 (2012).
15. de Ligt, J. et al. N. Engl. J. Med. published online, doi:10.1056/NEJMoa1206524 (3 October 2012).