Anna Hackett
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A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia Open
The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnos…
Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia Open
The cerebellar ataxias (CA) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% of genetic diagnose…
View article: Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance Open
The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five families, including …
View article: Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability Open
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,28…
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Open
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WG…
View article: Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Open
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a …
Dysregulations of sonic hedgehog signaling in <i>MED12</i>‐related X‐linked intellectual disability disorders Open
Background Mutations in mediator of RNA polymerase II transcription subunit 12 homolog ( MED12 , OMIM 300188) cause X‐linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3‐dependent Sonic Hedgeho…
A recurrent missense variant in<i>SLC9A7</i>causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation Open
We report two unrelated families with multigenerational nonsyndromic intellectual disability (ID) segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonl…
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability Open
Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching tec…
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression Open
Mediator occupies a key role in protein coding genes expression in mediating the contacts between gene specific factors and the basal transcription machinery but little is known regarding the role of each Mediator subunits. Mutations in ME…