6 results match your criteria: "Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.[Affiliation]"
PEDIA: prioritization of exome data by image analysis.
Genet Med
December 2019
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.
Methods: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data.
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.
Clin Dysmorphol
April 2019
Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
September 2019
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Article Synopsis
- The article had a spelling error in the author's name, Pleuntje J. van der Sluijs.
- It was incorrectly listed as Eline (P. J.) van der Sluijs.
- The error has been fixed in both the PDF and HTML formats of the article.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
June 2019
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS.
View Article and Find Full Text PDFExperiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence.
J Genet Couns
December 2018
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive degenerative muscular conditions. Carrier testing is available to at-risk females. Though carrier testing is often offered to adolescent females, it raises ethical issues related to autonomy.
View Article and Find Full Text PDFHeterozygous mutations affecting the protein kinase domain of cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
January 2018
Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Introduction: Recent evidence has emerged linking mutations in to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with mutations.
Methods: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause.