Josie Innes
Overview
Explore the profile of Josie Innes including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
86
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0
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Recent Articles
1.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim D, Burghel G, et al.
J Med Genet
. 2017 Sep;
55(2):89-96.
PMID: 28918392
Background: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer...
2.
Vrecar I, Innes J, Jones E, Kingston H, Reardon W, Kerr B, et al.
J Pediatr Genet
. 2017 Aug;
6(3):129-141.
PMID: 28794905
Mutations in the ( ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic...
3.
Haines B, Hughes J, Corbett M, Shaw M, Innes J, Patel L, et al.
J Clin Endocrinol Metab
. 2015 Mar;
100(5):E815-20.
PMID: 25781358
Context: 46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the...
4.
King D, Jones W, Crow Y, Dominiczak A, Foster N, Gaunt T, et al.
Hum Mol Genet
. 2015 Jan;
24(10):2733-45.
PMID: 25634561
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present...