D. Krishnakumar

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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.

Cerebrospinal fluid dynamics in pediatric pseudotumor cerebri syndrome

M. Czosnyka, Z. Czosnyka, D. Krishnakumar, 2019, Child's Nervous System.

Coupling of CSF and sagittal sinus pressure in adult patients with pseudotumour cerebri

J. Pickard, M. Czosnyka, Z. Czosnyka, 2019, Acta Neurochirurgica.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015, Journal of neuropathology and experimental neurology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study

A. Siddiqui, Saraswathy Sabanathan, E. Wassmer, 2022, Annals of clinical and translational neurology.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Courtney E. French, S. Gustincich, A. Bruselles, 2020, American journal of human genetics.

The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population‐based study

R. Will, C. Verity, R. Mcfarland, 2009, Developmental medicine and child neurology.

Successful treatment of two paediatric cases of anti-NMDA receptor encephalitis with cyclophosphamide: the need for early aggressive immunotherapy in tumour negative paediatric patients.

F. Kirkham, J. Ng, A. Whitney, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

Ania, Eleanor, Dewhurst, 2018 .

Idiopathic intracranial hypertension in childhood: pitfalls in diagnosis

J. Pickard, Z. Czosnyka, A. Parker, 2014, Developmental medicine and child neurology.

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.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Growth pattern trajectories in boys with Duchenne muscular dystrophy

F. Muntoni, L. Servais, A. Manzur, 2022, Orphanet Journal of Rare Diseases.

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature

R. Horvath, A. Dean, D. Krishnakumar, 2022, Molecular genetics & genomic medicine.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum

A. Maw, A. Parker, D. Krishnakumar, 2014, Journal of child neurology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

How to use lumbar puncture manometry in children

D. Krishnakumar, R. Mittal, J. Holland, 2023, Archives of Disease in Childhood.

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

A. Vanderver, J. Fish, T. Pierson, 2020, Pediatric neurology.

Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2

Robert W. Taylor, N. Lax, Soo-Mi Park, 2015 .

The infant with seizures (excluding neonatal seizures)

D. Krishnakumar, 2013 .

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.

Raised intracranial pressure

D. Krishnakumar, A. Rajesh, Miranda Kingston-hepner, 2017 .

Smart Education: Predictive Analytics of Student Academic Performance Using Machine Learning Models in Weka and Dataiku Systems

Jeffrey P. Bakken, Vladimir Uskov, Keerthi Sree Ganapathi, 2021 .

Socioeconomic Status and Coronary Heart Disease-A Tertiary Center Study

D. Krishnakumar, 2018 .

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.

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.

Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

M. Main, A. Manzur, A. Childs, 2023, The Lancet 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.

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.