D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 47 Citations 22,591 107 World Ranking 3323 National Ranking 1440

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Her primary scientific interests are in Genetics, Copy-number variation, Genome-wide association study, Single-nucleotide polymorphism and Gene. The concepts of her Genetics study are interwoven with issues in Autism and Autism spectrum disorder. Her Copy-number variation research includes elements of Structural variation, Genetic variation and Intellectual disability.

Her work deals with themes such as Gene duplication, Odds ratio, Case-control study and Genetic marker, which intersect with Genome-wide association study. She studies Single-nucleotide polymorphism, namely Genetic association. Her Gene research is multidisciplinary, relying on both Neuroscience and Bioinformatics.

Her most cited work include:

  • Functional impact of global rare copy number variation in autism spectrum disorders (1592 citations)
  • Origins and functional impact of copy number variation in the human genome (1576 citations)
  • Structural variation of chromosomes in autism spectrum disorder. (1458 citations)

What are the main themes of her work throughout her whole career to date?

Her scientific interests lie mostly in Genetics, Autism, Gene, Copy-number variation and Genome-wide association study. Genetics and Autism spectrum disorder are commonly linked in her work. Her study focuses on the intersection of Autism and fields such as Proband with connections in the field of Missense mutation.

Her Gene research includes themes of Schizophrenia and Computational biology. Her work carried out in the field of Copy-number variation brings together such families of science as Odds ratio, Structural variation, CNTNAP2, SNP array and Gene duplication. Her research in Genome-wide association study intersects with topics in Eating disorders, Case-control study, Genetic association, Genetic variation and Genetic architecture.

She most often published in these fields:

  • Genetics (77.05%)
  • Autism (36.07%)
  • Gene (29.51%)

What were the highlights of her more recent work (between 2015-2021)?

  • Genetics (77.05%)
  • Genome-wide association study (36.89%)
  • Gene (29.51%)

In recent papers she was focusing on the following fields of study:

The scientist’s investigation covers issues in Genetics, Genome-wide association study, Gene, Schizophrenia and Genomics. Her research on Genetics frequently links to adjacent areas such as Autism spectrum disorder. Her study in Autism spectrum disorder is interdisciplinary in nature, drawing from both Missense mutation and Disease.

Her Genome-wide association study research is multidisciplinary, incorporating perspectives in Genetic correlation, Eating disorders, Case-control study, Genetic association and Locus. Her work in Gene addresses issues such as Computational biology, which are connected to fields such as Genetic architecture, Autism, Epilepsy, Immune gene and Pathway information. Her Schizophrenia research incorporates elements of Bipolar disorder and Intellectual disability.

Between 2015 and 2021, her most popular works were:

  • Analysis of shared heritability in common disorders of the brain (726 citations)
  • Gene expression elucidates functional impact of polygenic risk for schizophrenia (606 citations)
  • Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (475 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Her primary areas of study are Genome-wide association study, Genetics, Autism spectrum disorder, Genomics and Genetic association. To a larger extent, she studies Gene with the aim of understanding Genome-wide association study. Her Copy-number variation, Exome sequencing, Genetic analysis, Compound heterozygosity and Medical genetics investigations are all subjects of Genetics research.

Her research integrates issues of Odds ratio, Gene duplication, Genetic marker and Genotype in her study of Copy-number variation. Her Autism spectrum disorder research focuses on Bipolar disorder and how it relates to Transcriptome, Disease, RNA splicing, Regulatory sequence and Molecular pathology. The Genetic association study combines topics in areas such as Meta-analysis, Genotyping, Locus, Genetic heterogeneity and Risk factor.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney.
Nature (2010)

2152 Citations

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk.
Nature (2010)

2105 Citations

Structural variation of chromosomes in autism spectrum disorder.

Christian R. Marshall;Abdul Noor;John B. Vincent;Anath C. Lionel.
American Journal of Human Genetics (2008)

1958 Citations

Analysis of shared heritability in common disorders of the brain

Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters.
Science (2018)

1200 Citations

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa.
American Journal of Human Genetics (2014)

914 Citations

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Nick Craddock;Matthew E. Hurles;Niall Cardin;Richard D. Pearson.
Nature (2010)

871 Citations

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Menachem Fromer;Panos Roussos;Solveig K. Sieberts;Jessica S. Johnson.
Nature Neuroscience (2016)

837 Citations

A genome-wide linkage and association scan reveals novel loci for autism

Lauren A. Weiss;Lauren A. Weiss;Dan E. Arking;Mark J. Daly;Mark J. Daly;Aravinda Chakravarti.
Nature (2009)

717 Citations

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Rainald Moessner;Christian R. Marshall;James S. Sutcliffe;Jennifer Skaug.
American Journal of Human Genetics (2007)

698 Citations

A genome-wide scan for common alleles affecting risk for autism

Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan.
Human Molecular Genetics (2010)

658 Citations

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