Katrina Prescott
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View article: Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy
Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy Open
Neurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic, and remain unsolved in ∼50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with …
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Our findings indicate that noncanonical splice variants may account for approximately 3% of families with undiagnosed FTAAD, highlighting the importance of incorporating analysis of introns and confirmatory RNA testing into genetic testing…
View article: Analysis of<i>BRCA1</i>,<i>BRCA2</i>and<i>PALB2</i>related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Analysis of<i>BRCA1</i>,<i>BRCA2</i>and<i>PALB2</i>related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes Open
Recessive Fanconi anemia (FA) phenotype is used in classification of BRCA1/FANCS , BRCA2/FANCD1 and PALB2/FANCN variants with respect to dominant hereditary breast- ovarian cancer syndrome. We assessed its utility by examining the spectrum…
View article: Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome Open
Purpose To quantify the impact of non-canonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and Familial Thoracic Aortic Aneurysm Disease (FTAAD). Meth…
View article: Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome Open
This study was aimed at assessing the diagnostic utility of whole genome sequence analysis in a well‐characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic…
View article: Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders Open
Objective We sought to evaluate outcomes for clinical management following a genetic diagnosis from the Deciphering Developmental Disorders (DDD) Study. Design Individuals in the DDD study who had a pathogenic/likely pathogenic genotype in…
View article: The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase
The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase Open
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin…
View article: Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus Open
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life‐threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority …
View article: Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome Open
Aims This study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing …
View article: The SHDRA syndrome associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
The SHDRA syndrome associated gene TMEM260 encodes a protein-specific O-mannosyltransferase Open
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome (SHDRA), but the function of the encoded protein remains unknown. We report that TMEM260 is an ER-located protein O-mannosyltransferase that selectiv…
View article: Expanding the genotypic spectrum of <scp> <i>TXNL4A</i> </scp> variants in <scp>Burn‐McKeown</scp> syndrome
Expanding the genotypic spectrum of <span> <i>TXNL4A</i> </span> variants in <span>Burn‐McKeown</span> syndrome Open
The developmental disorder Burn‐McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre‐messenger RNA splicing factor TXNL4A . Most patients have a los…
View article: Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of <i>CACNA1F</i> ‐mediated inherited retinal disorders Open
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene…
View article: Contribution of Retrotransposition to Developmental Disorders
Contribution of Retrotransposition to Developmental Disorders Open
Mobile genetic Elements (MEs) are segments of DNA which, through an RNA intermediate, can generate new copies of themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have be…