World's Best Scientists 2026 revealed!
Benjamin M. Neale

Benjamin M. Neale

Award Badge
Genetics
USA
2026

D-Index & Metrics

Genetics

D-Index
144
Citations
195661
World Ranking
159
National Ranking
85

Medicine

D-Index
144
Citations
195968
World Ranking
1397
National Ranking
817

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Genetics in United States Leader Award

Overview

Benjamin M. Neale is affiliated with Harvard University in the United States. Their primary field of study is Biochemistry, Genetics, and Molecular Biology, with notable contributions across 390 publications. Within this broad field, they focus extensively on Genetics, Molecular Biology, Psychiatry and Mental Health, Epidemiology, and Cognitive Neuroscience.

Their research covers a range of topics, including Genetic Associations and Epidemiology, Genomics and Rare Diseases, Genetic and Phenotypic Traits in Livestock, Genetic Mapping and Diversity in Plants and Animals, Genomic Variations and Chromosomal Abnormalities, Epigenetics and DNA Methylation, and Genetics and Neurodevelopmental Disorders.

Benjamin M. Neale has contributed to multiple papers published in prominent venues such as bioRxiv (Cold Spring Harbor Laboratory), European Neuropsychopharmacology, UNC Libraries, Nature Genetics, and Nature Communications. Specifically, they have authored or coauthored papers published in the following venues with respective publication counts:

  • bioRxiv (Cold Spring Harbor Laboratory): 65
  • European Neuropsychopharmacology: 28
  • UNC Libraries: 21
  • Nature Genetics: 18
  • Nature Communications: 14

Some recent and notable papers include:

  • A structural variation reference for medical and population genetics, 2020, Nature
  • Mapping the human genetic architecture of COVID-19, 2021, Nature
  • Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains, 2023, Nature Genetics
  • Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers, 2020, Nature Medicine
  • Mapping and characterization of structural variation in 17,795 human genomes, 2020, Nature

Frequent co-authors collaborating with Benjamin M. Neale include Mark J. Daly, Konrad J. Karczewski, Daniel P. Howrigan, Masahiro Kanai, and Alicia R. Martin. These collaborations indicate a network focused on genetics and genomics research within high-impact scientific domains.

Best Publications

  • PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

    Shaun Purcell;Shaun Purcell;Benjamin Neale;Benjamin Neale;Kathe Todd-Brown;Lori Thomas

  • Analysis of protein-coding genetic variation in 60,706 humans

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

  • The mutational constraint spectrum quantified from variation in 141,456 humans

    Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

  • Biological insights from 108 schizophrenia-associated genetic loci

    Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Aiden Corvin;James T. R. Walters

  • Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases.

    Marie Verbanck;Chia-Yen Chen;Benjamin Neale;Benjamin Neale;Ron Do

  • LD score regression distinguishes confounding from polygenicity in genome-wide association studies :

    Brendan K Bulik-Sullivan;Po-Ru Loh;Hilary K Finucane;Stephan Ripke

  • An atlas of genetic correlations across human diseases and traits.

    Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K Finucane;Verneri Anttila;Verneri Anttila;Alexander Gusev

  • Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

    Jordan W. Smoller;Kenneth Kendler;Nicholas John Craddock;Phil Hyoun Lee

  • Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

    Giulio Genovese;Anna K. Kähler;Robert E. Handsaker;Johan Lindberg

  • Synaptic, transcriptional and chromatin genes disrupted in autism

    Silvia De Rubeis;Xin-Xin He;Arthur P Goldberg;Christopher S. Poultney

  • Genome-wide association study identifies five new schizophrenia loci

    Stephan Ripke;Alan R. Sanders;Kenneth S. Kendler;Douglas F. Levinson

  • 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

  • Partitioning heritability by functional annotation using genome-wide association summary statistics.

    Hilary K Finucane;Hilary K Finucane;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Alexander Gusev;Gosia Trynka

  • Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

    Ditte Demontis;Ditte Demontis;Raymond K Walters;Raymond K Walters;Joanna Martin;Joanna Martin;Joanna Martin;Manuel Mattheisen

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Clinical use of current polygenic risk scores may exacerbate health disparities.

    Alicia R. Martin;Masahiro Kanai;Yoichiro Kamatani;Yukinori Okada

  • Patterns and rates of exonic de novo mutations in autism spectrum disorders

    Benjamin M. Neale;Yan Kou;Li Liu;Avi Ma'Ayan

  • 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

  • Efficient Bayesian mixed-model analysis increases association power in large cohorts

    Po-Ru Loh;George Tucker;Brendan K Bulik-Sullivan;Bjarni J Vilhjálmsson;Bjarni J Vilhjálmsson

  • Genome-wide association analysis identifies 13 new risk loci for schizophrenia

    Stephan Ripke;Stephan Ripke;Colm T. O'Dushlaine;Kimberly D. Chambert;Jennifer L. Moran

Frequent Co-Authors

Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Stephan Ripke
Stephan Ripke Massachusetts General Hospital
Aarno Palotie
Aarno Palotie University of Helsinki
Thomas Werge
Thomas Werge University of Copenhagen
Anders D. Børglum
Anders D. Børglum Aarhus University
Shaun Purcell
Shaun Purcell Harvard Medical School
Patrick F. Sullivan
Patrick F. Sullivan University of North Carolina at Chapel Hill
Tonu Esko
Tonu Esko University of Tartu
Steven A. McCarroll
Steven A. McCarroll Harvard University
Preben Bo Mortensen
Preben Bo Mortensen Aarhus University

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