Anna Hackett

Callaghan, NSW 2308, Australia

Last Updated: 09/26/2026

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Found 28 publications

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

Journal: Genome research

Published: June 11, 2024

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.

Journal: Clinical genetics

Published: October 13, 2022

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.

Journal: European journal of human genetics : EJHG

Published: September 07, 2022

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Journal: European journal of human genetics : EJHG

Published: October 08, 2021

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Journal: Human mutation

Published: July 05, 2020

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.

Journal: American journal of human genetics

Published: February 27, 2019

Management of stroke in the Australian Indigenous population: from hospitals to communities.

Management of stroke in the Australian Indigenous population: from hospitals to communities.

Journal: Internal medicine journal

Published: October 31, 2018

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Journal: Molecular genetics & genomic medicine

Published: July 20, 2018

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

Journal: Human molecular genetics

Published: June 28, 2018

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Journal: European journal of human genetics : EJHG

Published: June 21, 2017

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Journal: BMC biotechnology

Published: April 24, 2017

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.

Journal: Human molecular genetics

Published: January 23, 2017

Showing 1-12 of 28

Last Updated: 09/26/2026