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Best Female Scientists
2025

D-Index & Metrics

Best Female Scientists

D-Index
121
Citations
138290
World Ranking
510
National Ranking
300

Genetics

D-Index
122
Citations
150772
World Ranking
335
National Ranking
174

Medicine

D-Index
123
Citations
151006
World Ranking
3253
National Ranking
1794

Research.com Recognitions

  • 2025 - Research.com Best Female Scientists Award

Overview

Pamela Sklar was affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research primarily focused on fields within Biochemistry, Genetics, and Molecular Biology, with considerable work spanning subfields such as Genetics and Molecular Biology. Their research contributions also included topics related to Cardiology and Cardiovascular Medicine, Behavioral Neuroscience, and Physiology.

Their scholarly output concentrated strongly on several main topics including Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic Variations and Chromosomal Abnormalities, Genetics and Neurodevelopmental Disorders, RNA Regulation and Disease, Nutrition, Genetics, and Disease, as well as Stress Responses and Cortisol.

Among the frequent venues where Pamela Sklar published were UNC Libraries, where they had 27 publications, followed by Molecular Psychiatry and Nature Communications with two publications each. Other publication venues included bioRxiv (Cold Spring Harbor Laboratory) and the journal Nature.

Notable recent papers authored or coauthored by Pamela Sklar include:

  • Rare coding variants in ten genes confer substantial risk for schizophrenia, 2022, Nature
  • Analysis of protein-coding genetic variation in 60,706 humans, 2020, UNC Libraries
  • Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts, 2020, Cell Reports
  • Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder, 2021, Molecular Psychiatry
  • Divergent landscapes of A-to-I editing in postmortem and living human brain, 2024, Nature Communications

The scientist worked frequently in collaboration with a set of coauthors. The most common collaborators included Shaun Purcell (23 publications), Patrick F. Sullivan (20 publications), Douglas M. Ruderfer (16 publications), Steven A. McCarroll (13 publications), and Eli A. Stahl (12 publications).

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

  • Biological insights from 108 schizophrenia-associated genetic loci

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

  • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

    Shaun M. Purcell;Shaun M. Purcell;Naomi R. Wray;Jennifer L. Stone;Jennifer L. Stone;Peter M. Visscher

  • 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

  • Molecular Genetics of Attention-Deficit/Hyperactivity Disorder

    Stephen V. Faraone;Roy H. Perlis;Alysa E. Doyle;Jordan W. Smoller

  • 10 Years of GWAS Discovery: Biology, Function, and Translation

    Peter M. Visscher;Naomi R. Wray;Qian Zhang;Pamela Sklar

  • 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

  • Charaterization of single nucleotide polymorphisms in coding regions of human genes

    David Altshuler;Michele Cargill;George Q. Daley;George Q. Daley;James S. Ireland

  • 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

  • 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

  • Association between Microdeletion and Microduplication at 16p11.2 and Autism

    Lauren A. Weiss;Yiping Shen;Joshua M. Korn;Joshua M. Korn;Dan E. Arking

  • 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

  • De novo mutations in schizophrenia implicate synaptic networks

    Menachem Fromer;Andrew Pocklington;David Kavanagh;Hywel John Williams

  • 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

  • A polygenic burden of rare disruptive mutations in schizophrenia

    Shaun M Purcell;Jennifer L Moran;Menachem Fromer;Douglas Ruderfer

  • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

    Pamela Sklar;Pamela Sklar;Stephan Ripke;Stephan Ripke;Laura J. Scott;Ole A. Andreassen

  • Rare chromosomal deletions and duplications increase risk of schizophrenia

    Jennifer L. Stone;Jennifer L. Stone;Jennifer L. Stone;Michael C. O’Donovan;Hugh Gurling;George K. Kirov

Frequent Co-Authors

Shaun Purcell
Shaun Purcell Harvard Medical School
Patrick F. Sullivan
Patrick F. Sullivan University of North Carolina at Chapel Hill
Douglas M. Ruderfer
Douglas M. Ruderfer Vanderbilt University Medical Center
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Michael Conlon O'Donovan
Michael Conlon O'Donovan Cardiff University
Jordan W. Smoller
Jordan W. Smoller Harvard University
Christina M. Hultman
Christina M. Hultman Karolinska Institute
Michael John Owen
Michael John Owen Cardiff University
Steven A. McCarroll
Steven A. McCarroll Harvard University
Stephan Ripke
Stephan Ripke Massachusetts General Hospital

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These diverse educational pathways complement genetics by broadening career options within the ever-growing healthcare field.

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