Further clinical delineation of the MEF2C haploinsufficiency syndrome: report on new cases and literature review of severe neurodevelopmental disorders presenting …

I Vrečar, J Innes, EA Jones, H Kingston… - Journal of pediatric …, 2017 - thieme-connect.com
Mutations in the MEF2C (myocyte enhancer factor 2) gene have been established as a
cause for an intellectual disability syndrome presenting with seizures, absence of speech …

Mosaic structural variation in children with developmental disorders

DA King, WD Jones, YJ Crow… - Human molecular …, 2015 - academic.oup.com
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 …

Interchromosomal Insertional Translocation at Xq26.3 Alters SOX3 Expression in an Individual With XX Male Sex Reversal

B Haines, J Hughes, M Corbett, M Shaw… - The Journal of …, 2015 - academic.oup.com
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 …

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

J Innes, L Reali, J Clayton-Smith, G Hall… - Journal of Medical …, 2018 - jmg.bmj.com
Background Identification of CNVs through chromosomal microarray (CMA) testing is the first-
line investigation in individuals with learning difficulties/congenital abnormalities. Although …

[PDF][PDF] Copy Number Variants (CNVs) Affecting Cancer Predisposing Genes (CPGs) Detected As Incidental Findings In Routine Germline Diagnostic Chromosomal …

J Innes, L Reali, J Clayton-Smith, G Hall, D Lim… - Journal of Medical …, 2018 - core.ac.uk
Copy Number Variants (CNVs) Affecting Cancer Predisposing Genes (CPGs) Detected As
Incidental Findings In Routine Germline Diagn Page 1 Copy Number Variants (CNVs) Affecting …