Standout Papers

Exome sequencing as a tool for Mendelian disease gene discovery 2009 2026 2014 2020 1.3k
  1. Exome sequencing as a tool for Mendelian disease gene discovery (2011)
    Michael J. Bamshad, Sarah Ng et al. Nature Reviews Genetics
  2. Exome sequencing identifies the cause of a mendelian disorder (2009)
    Sarah Ng, Kati J. Buckingham et al. Nature Genetics
  3. Targeted capture and massively parallel sequencing of 12 human exomes (2009)
    Sarah Ng, Emily H. Turner et al. Nature

Immediate Impact

26 by Nobel laureates 28 from Science/Nature 77 standout
Sub-graph 1 of 20

Citing Papers

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
2024 Standout
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
8 intermediate papers

Works of Abigail W. Bigham being referenced

Exome sequencing as a tool for Mendelian disease gene discovery
2011 Standout
Exome sequencing identifies the cause of a mendelian disorder
2009 Standout
and 1 more

Author Peers

Author Last Decade Papers Cites
Abigail W. Bigham 3492 2537 524 998 56 6.0k
Mark Lathrop 2892 3158 400 507 47 7.1k
Chad D. Huff 3059 2114 164 756 62 4.7k
Esteban J. Parra 3651 1475 453 301 123 7.0k
Harry Ostrer 3313 3674 343 731 164 8.0k
Eric D. Green 1569 3822 225 435 67 7.7k
Joseph Glessner 3356 2120 415 612 133 5.4k
Devin Absher 3165 3881 599 616 96 7.2k
Olivier Delaneau 3971 2469 295 603 48 7.3k
Jeffrey R. Gulcher 2690 2834 346 373 81 7.3k
Ranjan Deka 3305 2023 286 338 155 6.6k

All Works

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2026