M. Chitre

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya

A. Basu, F. Kirkham, D. Saunders, 2018, Neurology.

Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom

O. Ciccarelli, W. Brownlee, A. Coles, 2021, Neurology: Neuroimmunology & Neuroinflammation.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Pitfalls in the diagnosis and misdiagnosis of epilepsy

M. Chitre, 2013 .

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

PEHO syndrome: the endpoint of different genetic epilepsies

Kaitlin M. Stouffer, C. Woods, M. Nahorski, 2018, Journal of Medical Genetics.

Correlation between the total number of features of paediatric pseudotumour cerebri syndrome and cerebrospinal fluid pressure

Z. Czosnyka, A. Parker, M. Chitre, 2020, Child's Nervous System.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Caitlin V. Miller, D. Nickerson, M. Bamshad, 2020, The Journal of clinical investigation.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Diagnosis of vertebral artery dissection in childhood posterior circulation arterial ischaemic stroke

D. Saunders, V. Ganesan, M. Chitre, 2016, Developmental medicine and child neurology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

U. Wieshmann, A. Chaudhuri, J. Gibb, 2021, The Lancet.

The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

U. Wieshmann, A. Chaudhuri, J. Gibb, 2021, The Lancet.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Robert W. Taylor, R. Horvath, E. Ostergaard, 2021, Human molecular genetics.

Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.

A. Basu, F. Kirkham, D. Saunders, 2018 .

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Sudden onset of lower limb flaccid paralysis

J. Cross, Saraswathy Sabanathan, M. Chitre, 2018, Archives of Disease in Childhood: Education & Practice Edition.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Different stroke(s)

T. Das, M. Chitre, D. Krishnakumar, 2015, Archives of Disease in Childhood: Education & Practice Edition.

Diagnosis of vertebral artery dissection in childhood posterior circulation arterial ischaemic stroke

D. Saunders, V. Ganesan, M. Chitre, 2016, Developmental medicine and child neurology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Clinical features , course and outcomes of a UK cohort of paediatric moyamoya

Grace, Vijayakumar, Leena, 2017 .

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Eleanor F. Dewhurst, K. Stirrups, D. Grozeva, 2017, American journal of human genetics.