Standout Papers
- Landscape of X chromosome inactivation across human tissues (2017)
- ACTN3 Genotype Is Associated with Human Elite Athletic Performance (2003)
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples (2016)
- The ExAC browser: displaying reference data information from over 60 000 exomes (2016)
- A brief history of human disease genetics (2020)
Immediate Impact
7 by Nobel laureates 21 from Science/Nature 61 standout
Citing Papers
Integrating the environmental and genetic architectures of aging and mortality
2025 Standout
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
2024 Standout
Works of Daniel G. MacArthur being referenced
A brief history of human disease genetics
2020 StandoutNature
The mutational constraint spectrum quantified from variation in 141,456 humans
2020
Author Peers
| Author | Last Decade | Papers | Cites | |||
|---|---|---|---|---|---|---|
| Daniel G. MacArthur | 4551 | 3809 | 1807 | 116 | 8.1k | |
| R E Ferrell | 3112 | 2766 | 566 | 194 | 8.7k | |
| Bruce D. Gelb | 1993 | 10018 | 1787 | 210 | 14.2k | |
| Victor A. McKusick | 5509 | 4214 | 2052 | 241 | 13.9k | |
| Daníel F. Guðbjartsson | 3771 | 2887 | 447 | 79 | 7.4k | |
| Jeffrey R. Gulcher | 2690 | 2834 | 251 | 81 | 7.3k | |
| Marcel M. A. M. Mannens | 1364 | 4749 | 3431 | 127 | 7.4k | |
| Leena Peltonen | 2563 | 3120 | 655 | 144 | 8.9k | |
| Holly K. Tabor | 2686 | 2351 | 240 | 62 | 5.8k | |
| Michael A. Simpson | 1152 | 2695 | 475 | 158 | 6.2k | |
| Frank E. Stockdale | 1124 | 4432 | 959 | 91 | 6.6k |
All Works
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