Standout Papers

A general framework for estimating the relative pathogenicity of... 2008 2026 2014 2020 3.5k
  1. A general framework for estimating the relative pathogenicity of human genetic variants (2014)
    Martin Kircher, Daniela Witten et al. Nature Genetics
  2. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011)
    Brian J. O’Roak, Pelagia Deriziotis et al. Nature Genetics
  3. Rare independent mutations in renal salt handling genes contribute to blood pressure variation (2008)
    Weizhen Ji, Jia Nee Foo et al. Nature Genetics

Immediate Impact

19 by Nobel laureates 30 from Science/Nature 77 standout
Sub-graph 1 of 18

Citing Papers

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
2024 Standout
Use of Artificial Intelligence in Improving Outcomes in Heart Disease: A Scientific Statement From the American Heart Association
2024 Standout

Works of Brian J. O’Roak being referenced

A general framework for estimating the relative pathogenicity of human genetic variants
2014 Standout

Author Peers

Author Last Decade Papers Cites
Brian J. O’Roak 4607 4513 1274 36 8.1k
Sarah Ng 3028 3404 394 30 5.9k
Choli Lee 2800 5556 388 36 7.9k
Joan H.M. Knoll 3873 4920 344 99 7.9k
Maja Bućan 2829 4076 705 103 7.2k
Mark Lathrop 2892 3158 301 47 7.1k
Bernd Gloss 2954 4428 468 40 7.4k
Christian Gilissen 4305 4433 354 135 8.2k
Christian R. Marshall 3060 2784 1142 140 5.3k
Norma J. Nowak 2556 5020 606 140 8.2k
Gail E. Herman 2529 3187 396 100 5.6k

All Works

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2026