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Clinical Sequencing Papers of Note: Apr 19, 2011


Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, et al.
Genome Res. 2011 Apr 12. [Epub ahead of print]

The airway microbiome in cystic fibrosis and implications for treatment.
Zemanick ET, Sagel SD, Harris JK.
Curr Opin Pediatr. 2011 Apr 13. [Epub ahead of print]

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, et al.
J Med Genet. 2011 Apr 14. [Epub ahead of print]

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, et al.
Hum Mol Genet. 2011 Apr 14. [Epub ahead of print]

Molecular characterization of lapinized classical swine fever vaccine strain by full-length genome sequencing and analysis.
Gupta PK, Saini M, Dahiya SS, Patel CL, Sonwane AA, Rai DV, Pandey KD.
Anim Biotechnol. 2011 Apr;22(2):111-7.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: The WASH complex member SWIP.
Ropers F, Derivery E, Hu H, et al.
Hum Mol Genet. 2011 Apr 15. [Epub ahead of print]

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