2026 Konrad J. Karczewski: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	68	2379	2263	1070	1008	180	51984

Overview

Konrad J. Karczewski is affiliated with Harvard University in the United States. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with 192 publications in this area. Subfields of focus include Genetics, Molecular Biology, Cancer Research, Pediatrics, Perinatology and Child Health, and Clinical Biochemistry.

The scientist has contributed to multiple main topics including Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic Variations and Chromosomal Abnormalities, Genomics and Phylogenetic Studies, Cancer Genomics and Diagnostics, Epigenetics and DNA Methylation, and Bioinformatics and Genomic Networks.

Frequent co-authors in their publications are Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur, Matthew Solomonson, and Timothy Poterba. Their work has been published regularly in venues such as bioRxiv (Cold Spring Harbor Laboratory), Nature, UNC Libraries, Nature Genetics, and Nature Communications.

Among their recent papers are:

The mutational constraint spectrum quantified from variation in 141,456 humans, 2020, Nature
A structural variation reference for medical and population genetics, 2020, Nature
Rare coding variants in ten genes confer substantial risk for schizophrenia, 2022, Nature
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes, 2022, bioRxiv (Cold Spring Harbor Laboratory)
A cross-disorder dosage sensitivity map of the human genome, 2022, Cell

In addition to journal articles, they have multiple book publications with Springer Science+Business Media, such as editions of "Parallel Processing and Applied Mathematics" released in 2020 and 2023.

Best Publications

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

10685
Citations
The mutational constraint spectrum quantified from variation in 141,456 humans

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

8404
Citations
The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski;em> ..] Laurent C. Francioli;Daniel G. MacArthur

6800
Citations
Genetic effects on gene expression across human tissues.

Enhancing GTEx (eGTEx) groups

4280
Citations
Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle;Eurie L. Hong;Manoj Hariharan;Yong Cheng

2838
Citations
An integrated encyclopedia of DNA elements in the human genome

Ian Dunham;Anshul Kundaje;Shelley F. Aldred;Patrick J. Collins

2824
Citations
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

Rui Chen;George I. Mias;Jennifer Li-Pook-Than;Lihua Jiang

1444
Citations
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

Alvaro N. Barbeira;Scott P. Dickinson;Rodrigo Bonazzola;Jiamao Zheng

1200
Citations
A structural variation reference for medical and population genetics

Ryan L Collins;Ryan L Collins;Harrison Brand;Harrison Brand;Konrad J Karczewski;Konrad J Karczewski;Xuefang Zhao;Xuefang Zhao

1135
Citations
Landscape of X chromosome inactivation across human tissues

Taru Tukiainen;Taru Tukiainen;Alexandra-Chloé Villani;Alexandra-Chloé Villani;Angela Yen;Angela Yen;Manuel A. Rivas;Manuel A. Rivas;Manuel A. Rivas

933
Citations
Integrative omics for health and disease.

Konrad J. Karczewski;Michael P. Snyder

858
Citations
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Jason Homsy;Samir Zaidi;Yufeng Shen;James S. Ware;James S. Ware;James S. Ware

774
Citations
Mendelian randomization of blood lipids for coronary heart disease

Michael V. Holmes;Folkert W. Asselbergs;Tom M. Palmer;Fotios Drenos

748
Citations
The ExAC browser: displaying reference data information from over 60 000 exomes

Konrad J. Karczewski;Ben Weisburd;Brett Thomas;Brett Thomas;Matthew Solomonson;Matthew Solomonson

730
Citations
Variation in Transcription Factor Binding Among Humans

Maya Kasowski;Fabian Grubert;Fabian Grubert;Christopher Heffelfinger;Manoj Hariharan;Manoj Hariharan

707
Citations
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

674
Citations
Performance comparison of exome DNA sequencing technologies

Michael J Clark;Rui Chen;Hugo Y K Lam;Konrad J Karczewski

585
Citations
The UK10K project identifies rare variants in health and disease

Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

453
Citations
Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin;Nicola Whiffin;Eric Minikel;Eric Minikel;Roddy Walsh;Roddy Walsh;Anne H O’Donnell-Luria;Anne H O’Donnell-Luria

411
Citations
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

403
Citations

Frequent Co-Authors

Daniel G. MacArthur Garvan Institute of Medical Research

Anne H. O’Donnell-Luria Broad Institute

Jessica Alföldi Broad Institute

Mark J. Daly Massachusetts General Hospital

Benjamin M. Neale Harvard University

Monkol Lek Yale University

Aarno Palotie University of Helsinki

Michael Snyder Stanford University

Aki S. Havulinna Finnish Institute for Health and Welfare

Tonu Esko University of Tartu

External Links

Personal website of Konrad J. Karczewski

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