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Elena Maestrini

Elena Maestrini

D-Index & Metrics

Genetics

D-Index
52
Citations
24273
World Ranking
3753
National Ranking
84

Overview

Elena Maestrini is affiliated with the University of Bologna in Italy. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology as well as Neuroscience.

The scientist's work focuses notably on Genetics, Cognitive Neuroscience, Molecular Biology, Psychiatry and Mental Health, and Plant Science. Their main research topics include Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic Variations and Chromosomal Abnormalities, Genomics and Rare Diseases, Migraine and Headache Studies, Genetic Associations and Epidemiology, and Dementia and Cognitive Impairment Research.

Maestrini has contributed to the following notable publications:

  • "An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray", 2020, Scientific Reports
  • "Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor", 2023, Annals of Neurology
  • "Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates", 2024, npj Genomic Medicine
  • "Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old", 2020, Brain Sciences
  • "Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility", 2022, Frontiers in Psychiatry

Frequent co-authors who have collaborated with Maestrini include:

  • Elena Bacchelli
  • Cinzia Cameli
  • Marta Viggiano
  • Paola Visconti
  • Annio Posar

The scientist has published in various venues, with frequent appearances in:

  • Annals of Neurology
  • Scientific Reports
  • npj Genomic Medicine
  • The American Journal of Human Genetics
  • Brain Sciences

Best Publications

  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

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

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • 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

  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts

  • Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa

  • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

    Silvia Bione;Elena Maestrini;Stefano Rivella;Mita Mancini

  • A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

    Brunella Franco;Silvana Guioli;Antonella Pragliola;Antonella Pragliola;Barbara Incerti

  • A novel X-linked gene, G4.5. is responsible for Barth syndrome

    Silvia Bione;Patrizia D'Adamo;Elena Maestrini;Agi K. Gedeon

  • 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

  • A full genome screen for autism with evidence for linkage to a region on chromosome 7q International Molecular Genetic Study of Autism Consortium

    Anthony Bailey;Amaia Hervas;Nicola Matthews;Sarah Palferman

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    Colm O'Dushlaine;Lizzy Rossin;Phil H. Lee;Laramie Duncan;Laramie Duncan

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

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Claire S. Leblond;Caroline Nava;Anne Polge;Julie Gauthier

  • Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Claire S. Leblond;Jutta Heinrich;Richard Delorme;Christian Proepper

  • Individual common variants exert weak effects on the risk for autism spectrum disorders.

    Richard Anney;Lambertus Klei;Dalila Pinto;Dalila Pinto;Joana Almeida

  • A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p

    Le, Couteur, A;TP Kelly;T Berney;HR McConachie

  • A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.

    Simon E. Fisher;Angela J. Marlow;Janine Lamb;Elena Maestrini

  • A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

    Elena Maestrini;Bernhard P. Korge;Juan Ocaña-Sierra;Elisa Calzolari

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Dalila Pinto;Elsa Delaby;Daniele Merico;Mafalda Barbosa

Frequent Co-Authors

Anthony P. Monaco
Anthony P. Monaco Tufts University
Anthony J. Bailey
Anthony J. Bailey University of British Columbia
Catalina Betancur
Catalina Betancur Sorbonne University
Jeremy R. Parr
Jeremy R. Parr Newcastle University
Janine A. Lamb
Janine A. Lamb University of Manchester
Geraldine Dawson
Geraldine Dawson Duke University
Dalila Pinto
Dalila Pinto Icahn School of Medicine at Mount Sinai
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago
Marion Leboyer
Marion Leboyer Paris-Est Créteil University
Alistair T. Pagnamenta
Alistair T. Pagnamenta University of Oxford

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