Katherine Neas
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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: Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<scp>CDH</scp>+) using <scp>DECIPHER</scp> data
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (<span>CDH</span>+) using <span>DECIPHER</span> data Open
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of t…
View article: WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase Open
Whole-genome sequencing relied heavily on RNA studies to identify DMD splice-altering variants. Short-read RNA sequencing was regularly confounded by the effectiveness of nonsense-mediated mRNA decay and low read depth of the giant DMD mRN…
View article: A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders Open
Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper li…
View article: Spinocerebellar Ataxia type 29 in a family of Māori descent
Spinocerebellar Ataxia type 29 in a family of Māori descent Open
Background Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 ( ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, indigenous to New…
View article: Currarino syndrome with two synchronous presacral teratomas
Currarino syndrome with two synchronous presacral teratomas Open
Currarino syndrome is rare and consists of an anorectal malformation, a sacrococcygeal bony defect and a presacral mass. Each feature is present to a variable degree in affected individuals. The syndrome develops as a result of a heterozyg…
View article: The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants Open
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A…
View article: <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity Open
Background Mutations in forkhead box protein P1 ( FOXP1 ) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerg…