A. Haworth

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Refined exercise testing can aid dna‐based diagnosis in muscle channelopathies

M. Koltzenburg, M. Hanna, E. Matthews, 2011, Annals of neurology.

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

W. Chung, Kai Wang, G. Lyon, 2019, Cold Spring Harbor molecular case studies.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

D. Kullmann, G. Meola, S. Schorge, 2009, Neurology.

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

G. Lyon, Robert Kleyner, A. Haworth, 2021, Cold Spring Harbor molecular case studies.

Diagnostic Genomics and Clinical Bioinformatics

N. Lench, A. Haworth, H. Savage, 2016 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.

M. T. Pellecchia, E. Tolosa, H. Wichmann, 2005, Brain : a journal of neurology.

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

G. Lyon, Robert Kleyner, A. Haworth, 2021, medRxiv.

What causes paramyotonia in the United Kingdom?

M. Davis, M. Sweeney, M. Hanna, 2008, Neurology.

PCR amplification of 40-year-old paraffin-embedded tumor-tissues - comparison of 4 different DNA extraction and purification methods.

A. Haworth, P. Kumar, G. Malone, 1994, International journal of oncology.

Screening for cystic fibrosis Should begin with cascade screening

M. Schwarz, A. Haworth, G. Malone, 1994, BMJ.

Early-onset cerebellar ataxia in a patient with CMT2A2

G. Lyon, A. Haworth, R. Madrid, 2020, Cold Spring Harbor molecular case studies.

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review

S. Mansour, B. Thilaganathan, S. Drury, 2020, BJOG: an International Journal of Obstetrics and Gynaecology.

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

R. Barker, V. Ramachandran, T. Homfray, 2020, BMC medical genetics.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

R. Griggs, M. Davis, M. Hanna, 2011, Neurology.

Active cascade testing for carriers of cystic fibrosis gene

M. Schwarz, A. Haworth, M. Super, 1994, BMJ.

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

D. Kullmann, S. Schorge, M. Davis, 2007, Brain : a journal of neurology.

Genome-wide association analysis identi fi es three new susceptibility loci for childhood body mass index

Anubha, Ang, Eld, 2016 .

Prevalence study of genetically defined skeletal muscle channelopathies in England

M. Hanna, D. R. Raja Rayan, E. Matthews, 2013, Neurology.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

S. Schorge, H. Haapasalo, M. Hanna, 2012, Neurology.

SSCP analysis: A blind sensitivity trial

X. Estivill, L. Kalaydjieva, M. Claustres, 1997, Human mutation.

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

D. Burke, D. Kullmann, R. Griggs, 2016, Brain : a journal of neurology.

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

S. Mansour, C. Hall, A. Haworth, 2021, European journal of medical genetics.

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

H. Houlden, A. Haworth, J. Hersheson, 2012, Human mutation.

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

P. McColgan, S. Tabrizi, H. Houlden, 2014, Neurology.

Is anything lying behind parkin heterozygous mutations

Kailash P. Bhatia, Nicholas W. Wood, J. A. Hardy, 2012 .

expansions are the most common genetic cause of Huntington ’ s disease phenocopies

S. Tabrizi, H. Houlden, E. Mudanohwo, 2017 .

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

N. Brunetti‐Pierri, B. Dallapiccola, A. Bruselles, 2020, Clinical genetics.

An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family

M. Sweeney, J. Polke, S. Heales, 2011, Movement disorders : official journal of the Movement Disorder Society.

A new explanation for recessive myotonia congenita

S. Schorge, M. Davis, M. Hanna, 2012, Neurology.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

M. Tassabehji, D. Barton, G. Taylor, 1995, Human mutation.

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

D. Kullmann, S. Schorge, M. Sweeney, 2021, Brain : a journal of neurology.

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

M. Schwarz, H. Cuppens, A. Haworth, 1998, Human mutation.