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

Amanda Thomas‐Wilson

New York Genome Center

ORCID: 0000-0001-5875-8349
Biochemistry, Genetics and Molecular BiologyMedicine

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 7%percentile
0.104Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Challenges associated with diagnostic exome sequencing in liver diseases

medRxiv(2022)10.1101/2022.06.21.22276400
Top 78%
0.104DataRank
Top 78%1 citations

Kelsie Bogyo, Sheena Kapoor, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi +15 more

Papers

Driven by 11 papers — median percentile 22. Top paper: “Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays”.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5
N/A
0.494DataRank · unranked
26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Challenges associated with diagnostic exome sequencing in liver diseases

medRxiv(2022)10.1101/2022.06.21.22276400
Top 78%
0.104DataRank
Top 78%1 citations

Kelsie Bogyo, Sheena Kapoor, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi +15 more

Embryonic lethal genetic variants and chromosomally normal pregnancy loss

medRxiv(2020)10.1101/2020.10.16.20214163
N/A
0DataRank · unranked
2 citations

Badri N. Vardarajan, Avinash Avabhyankar, Sonja Kytömaa, Bruce Levin, Nara Sobreira +5 more

Detection of mosaic variants using genome sequencing in a large pediatric cohort

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63062
N/A
0DataRank · unranked
14 citations

Katie M. Gallagher, Atteeq U. Rehman, Priya Marathe, Katherine E. Bonini, Monisha Sebastin +21 more

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

Genetics in Medicine(2023)10.1016/j.gim.2023.100880
N/A
0DataRank · unranked
42 citations

Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis +22 more

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

Clinical Genetics(2023)10.1111/cge.14365
N/A
0DataRank · unranked
6 citations

Amanda Thomas‐Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase +24 more

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

medRxiv(2023)10.1101/2023.03.18.23286992
N/A
0DataRank · unranked
7 citations

Priya Marathe, Nicole Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis +22 more

Clinical Impact of Telomere Length Testing for Interstitial Lung Disease

CHEST Journal(2024)10.1016/j.chest.2024.06.006
N/A
0DataRank · unranked
23 citations

C. Eckhardt, Claire McGroder, Shannon Benesh, Julie Porcelli, Christopher Depender +6 more

Causal Genetic Variants in Stillbirth

New England Journal of Medicine(2020)10.1056/nejmoa1908753
N/A
0DataRank · unranked
140 citations

Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi +21 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362
N/A
0DataRank · unranked
10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-01600-8
N/A
0DataRank · unranked
14 citations

Avinash V. Dharmadhikari, Sara D. Ragi, José Ronaldo Lima de Carvalho, Christine L. Xu, Amanda Thomas‐Wilson +8 more