Andrea Haworth

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Defining an approach to empower clinical geneticists to do genomic reanalysis.

Journal: BMC medical genomics

Published: September 11, 2025

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.

Journal: Cold Spring Harbor molecular case studies

Published: August 02, 2021

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Journal: Brain : a journal of neurology

Published: May 24, 2021

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Journal: European journal of medical genetics

Published: August 03, 2020

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Journal: Clinical genetics

Published: April 15, 2020

Early-onset cerebellar ataxia in a patient with CMT2A2.

Early-onset cerebellar ataxia in a patient with CMT2A2.

Journal: Cold Spring Harbor molecular case studies

Published: December 31, 2019

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Journal: BMC medical genetics

Published: August 14, 2019

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Journal: Cold Spring Harbor molecular case studies

Published: November 19, 2018

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

Journal: Brain : a journal of neurology

Published: February 26, 2016

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Journal: Neurology

Published: December 24, 2013

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Journal: Neurology

Published: March 22, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026