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Author Details

Jana Vandrovcova
UCL Queen Square Institute of Neurology
2004
73
33
PMIDPaper TitleJournal TitlePublished Year
37973950Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
37853102Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
37642407Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.Expert Rev Mol Diagn2023
37712079The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Front Neurol2023
37486023Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.Ann Neurol2023
37620324Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.Sci Rep2023
37516995Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain2023
34518334Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.J Neurol Neurosurg Psychiatry2022
36136088BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.Genet Med2022
33026126Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.Mov Disord2021
33543803Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.Mov Disord2021
33623159Applying genomic and transcriptomic advances to mitochondrial medicine.Nat Rev Neurol2021
33871559Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease.JAMA Neurol2021
33818904A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.Mol Genet Genomic Med2021
33780167Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?Ann Clin Transl Neurol2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34506082SORL1 mutation in a Greek family with Parkinson's disease and dementia.Ann Clin Transl Neurol2021
33969176Spastic paraplegia preceding <i>PSEN1</i>-related familial Alzheimer's disease.Alzheimers Dement (Amst)2021
34184781Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.Ann Neurol2021
33377220NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.Ann Neurol2021
31509304Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.Eur J Neurol2020
31820119Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.Acta Neuropathol2020
32777174Neuronal intranuclear inclusion disease is genetically heterogeneous.Ann Clin Transl Neurol2020
32934340Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Eur J Hum Genet2020
32334514Prevalence of familial cluster headache: a systematic review and meta-analysis.J Headache Pain2020
32211515<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonism.Neurol Genet2020
32542757GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.Ann Neurol2020
32516806GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.Brain2020
31172514FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.Br J Haematol2019
30926972Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet2019
31028356Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.Nat Genet2019
27881428Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.Brief Bioinform2018
29392776A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.Mov Disord2018
29472272Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.J Neurol Neurosurg Psychiatry2018
29468182<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy.Ann Clin Transl Neurol2018
29543232Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Genet Med2018
29127725A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.Hum Mutat2018
27899424Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.J Neurol Neurosurg Psychiatry2017
28137300Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.Genome Biol2017
28403906An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.BMC Syst Biol2017
28530713BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.Nat Immunol2017
28899015The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.Brain2017
28575651Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.Am J Hum Genet2017
27011056Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.Genet Med2016
27745832Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.Am J Hum Genet2016
26912063Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.Mol Neurodegener2016
25629080Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.Mol Genet Genomic Med2015
28764847Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].Neurobiol Aging2015
24956927Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.BMC Med Genet2014
25115870The South Asian genome.PLoS One2014
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Collaborators

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Institute of Neurology, University College London (UCL)
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Co-authored papers 21
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UCL Great Ormond Street Institute of Child Health, University College London
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UCL Great Ormond Street Institute of Child Health
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University of Adelaide
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Graham R S Ritchie
Wellcome Sanger Institute
Co-authored papers 2
Kristina Iba??ez
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Susan Fairley
European Bioinformatics Institute
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Michael Schuster
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
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Bendik S Winsvold
Co-authored papers 2
Stephen M J Searle
Wellcome Trust Sanger Institute
Co-authored papers 2
Y Amy Tang
Northeastern University
Co-authored papers 2
Gerard D Schellenberg
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Fiona Cunningham
European Bioinformatics Institute
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Valentina Cipriani
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Release 1.2