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Author Details

Anna C Need
Imperial College London
2003
56
39
PMIDPaper TitleJournal TitlePublished Year
37115922The genomic landscape of familial glioma.Sci Adv2023
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32404617Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis.Psychiatr Genet2020
31374203Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.Am J Hum Genet2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
30001766Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).Twin Res Hum Genet2018
29942086Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.Nat Genet2018
28061364De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet2017
28093568GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Mol Psychiatry2017
29068436GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Mol Psychiatry2017
29186694Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.Cell Rep2017
27899421The importance of dynamic re-analysis in diagnostic whole exome sequencing.J Med Genet2017
27693232De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet2016
27757059Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.Dialogues Clin Neurosci2016
25256757The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.Clin Genet2015
25590979Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Genet Med2015
23752246Exome sequence analysis of Finnish patients with clozapine-induced agranulocytosis.Mol Psychiatry2014
25144873Schizophrenia genetics comes of age.Neuron2014
24866043One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Nat Neurosci2014
24950818Where now for schizophrenia research?Eur Neuropsychopharmacol2014
24651605Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.Genet Med2014
23444947A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.J Clin Exp Neuropsychol2013
22581936Clinical application of exome sequencing in undiagnosed genetic conditions.J Med Genet2012
22939633Using ERDS to infer copy-number variants in high-coverage genomes.Am J Hum Genet2012
22863191Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.Am J Hum Genet2012
22863189Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.Am J Hum Genet2012
20865733Brain-derived neurotrophic factor val66met polymorphism and hippocampal activation during episodic encoding and retrieval tasks.Hippocampus2011
22140359Copy number variation of KIR genes influences HIV-1 control.PLoS Biol2011
21624899SVA: software for annotating and visualizing sequenced human genomes.Bioinformatics2011
19744893Temporal lobe functional activity and connectivity in young adult APOE varepsilon4 carriers.Alzheimers Dement2010
20838461The characterization of twenty sequenced human genomes.PLoS Genet2010
20125193Common genetic variation and performance on standardized cognitive tests.Eur J Hum Genet2010
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
20373665Whole genome association studies in complex diseases: where do we stand?Dialogues Clin Neurosci2010
20061627Genome-wide scan of copy number variation in late-onset Alzheimer's disease.J Alzheimers Dis2010
19641018COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals.Cereb Cortex2010
19197363A genome-wide investigation of SNPs and CNVs in schizophrenia.PLoS Genet2009
19734545A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.Hum Mol Genet2009
19836853Next generation disparities in human genomics: concerns and remedies.Trends Genet2009
19571808Common variants conferring risk of schizophrenia.Nature2009
19161619A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans.Genome Biol2009
19156168Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.Eur J Hum Genet2009
19300482A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.PLoS Genet2009
18205171Failure to replicate effect of Kibra on human memory in two large cohorts of European origin.Am J Med Genet B Neuropsychiatr Genet2008
18606306Long-range LD can confound genome scans in admixed populations.Am J Hum Genet2008
18668039Large recurrent microdeletions associated with schizophrenia.Nature2008
18256235WGAViewer: software for genomic annotation of whole genome association studies.Genome Res2008
17237123Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.J Med Genet2007
17846664Control of axonal growth and regeneration of sensory neurons by the p110delta PI 3-kinase.PLoS One2007
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Collaborators

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Kevin V Shianna
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Vandana Shashi
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Duke University School of Medicine
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University of Oslo
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Genomics England Ltd.
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Kjetil Sundet
University of Oslo
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Derek W Morris
Co-authored papers 6
Michael Gill
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Richard E Straub
Lieber Institute for Brain Development
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Elisabeth Widen
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Aiden Corvin
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Matthew C Keller
Co-authored papers 6
Russell A Poldrack
Stanford University
Co-authored papers 6
Panos Roussos
Co-authored papers 6
Dimitrios Avramopoulos
Johns Hopkins School of Medicine
Co-authored papers 6
Vidar M Steen
University of Oslo, Oslo University Hospital
Co-authored papers 6
Release 1.2