Konrad J. Karczewski

Author

Also Known As

Alföldi, Jessica, Benjamin M. Neale, Beryl B. Cummings, Chris Joyce, Deelman, Ewa, Diane Kaplan, Dongarra, Jack, Elizabeth G. Atkinson, Eric Vallabh Minikel, FinnGen

244

Publications

55.1K

Citations

H-Index

125

Concepts

All Affiliations

Massachusetts General Hospital Broad Institute Harvard University Stanford University Institute for Molecular Medicine Finland

About

Konrad J. Karczewski is an author at Massachusetts General Hospital specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	42	54	25K
2	Public Health	22	26	8.5K
3	Natural Sciences	10	10	2.7K
4	Engineering	6	6	2.5K
5	Social Sciences	2	2	373

Konrad J. Karczewski

103

Publications

47K

Citations

H-Index

Page 1

	Year	Citations
Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Nature Phenotypic VariationProtein-coding Genetic VariationGeneticsHuman PolymorphismGenomics	2016	10.1K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Nature	2020	9.6K
Annotation of functional variation in personal genomes using RegulomeDB Alan P. Boyle, Eurie L. Hong, Manoj Hariharan, Genome Research Detailed AnnotationGeneticsGenomicsGenome-wide Association StudyComputational Genomics	2012	2.8K
An integrated encyclopedia of DNA elements in the human genome Ian Dunham, Anshul Kundaje, Shelley Force Aldred, The Journal of the American Medical Association (JAMA) Network (American Medical Association)	2012	2.8K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, GeneticsGenomicsClinical GeneticsHuman PhenotypesHuman Variation	2019	1.8K
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes Rui Chen, George I. Mias, Jennifer Li‐Pook‐Than, Cell EngineeringMedicineGeneticsOmics IntegrationOmics Technology	2012	1.3K
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics Alvaro Barbeira, Scott Dickinson, Rodrigo Bonazzola, Nature Communications	2018	1.2K
Landscape of X chromosome inactivation across human tissues Taru Tukiainen, Alexandra–Chloé Villani, Angela Yen, Nature	2017	1.1K
A genomic mutational constraint map using variation in 76,156 human genomes Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Nature MedicineGeneticsEvolutionary BiologyNatural SciencesGenome Analysis	2023	1.1K
A structural variation reference for medical and population genetics Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Nature	2020	1.1K

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