🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Philip M. Boone

Broad Institute

ORCID: 0000-0001-9528-252X

Also affiliated with Boston Children's Hospital, Massachusetts General Hospital, Boston Children's Museum

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile
5.1Author DataRank

Indexed papers

2in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036
Top 5%
4.7DataRank
Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Papers

Driven by 12 papers — median percentile 74. Top paper: “A cross-disorder dosage sensitivity map of the human genome”.

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036
Top 5%
4.7DataRank
Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009
N/A
2.2DataRank · unranked
123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9
Top 48%
0.373DataRank
Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.15.480098
N/A
0DataRank · unranked
0 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +15 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363
N/A
0DataRank · unranked
5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269
N/A
0DataRank · unranked
1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.07.555775
N/A
0DataRank · unranked
0 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +13 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.006
N/A
0DataRank · unranked
23 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +17 more

Free, online videos for distance learning in medical genetics

European Journal of Medical Genetics(2020)10.1016/j.ejmg.2020.103983
N/A
0DataRank · unranked
5 citations

Angela Chen, Dustin Huynh, Olivia Heutlinger, Kimberly A. Eberenz, Samyukta Mallick +5 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273
N/A
0DataRank · unranked
3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098
N/A
0DataRank · unranked
54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.015
N/A
0DataRank · unranked
30 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +18 more