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

Amy E. Roberts

Boston Children's Hospital

ORCID: 0000-0001-5827-8521

Also affiliated with Harvard University

Biochemistry, Genetics and Molecular BiologyMedicineImmunology and Microbiology

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 5%percentile
0.373Author 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.

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

Papers

Driven by 24 papers — median percentile 52. Top paper: “Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects”.

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

JACC Basic to Translational Science(2020)10.1016/j.jacbts.2020.01.012
N/A
1.1DataRank · unranked
28 citations

Andrew D. Rouillard, Nicolas Fernandez, Zichen Wang, Alexander Lachmann, Sunita S. Shankaran +21 more

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.12231
N/A
0.596DataRank · unranked
52 citations

Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick +17 more

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014
N/A
0.546DataRank · unranked
37 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

The Genetics of Neurodevelopment in Congenital Heart Disease

Canadian Journal of Cardiology(2022)10.1016/j.cjca.2022.09.026
N/A
0.470DataRank · unranked
22 citations

Asmita Singhania, Amy E. Roberts, Sarah U. Morton, Eli Patt

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107626
N/A
0.425DataRank · unranked
16 citations

Martin Caha, Leslie Smoot, David J. Harris, Amy E. Roberts, Stephanie Sacharow +2 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007
N/A
0.373DataRank · unranked
11 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 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

Association of genetic and sulcal traits with executive function in congenital heart disease

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51950
N/A
0.312DataRank · unranked
7 citations

Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner +17 more

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Nature Communications(2025)10.1038/s41467-025-61625-0
N/A
0.241DataRank · unranked
4 citations

Edgar J. Hernández, Thomas A. Miller, Nathan R. Blue, Raquel M. Zimmerman, Eric R. Griffiths +21 more

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure

NeuroImage(2024)10.1016/j.neuroimage.2024.120721
N/A
0.241DataRank · unranked
4 citations

Ami Norris‐Brilliant, Anum Rahman, Stephania Assimopoulos, Sarah U. Morton, Azadeh Kushki +26 more

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

iScience(2024)10.1016/j.isci.2024.111707
N/A
0.165DataRank · unranked
2 citations

Jane W. Newburger, Steven R. DePalma, Martina Brueckner, John D. Cleveland, Wendy K. Chung +16 more

Advancing precision care in pregnancy through a treatable fetal findings list

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.011
N/A
0DataRank · unranked
10 citations

Michael Duyzend, Sophia Adelson, Julie Yeo, Mark D. Fleming, Rebecca Ganetzky +12 more

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

American Heart Journal(2020)10.1016/j.ahj.2020.03.023
N/A
0DataRank · unranked
50 citations

Judith M.A. Verhagen, Raquel Yotti, Alireza Haghighi, Dean Phelan, Paul A. James +27 more

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

Medical Image Analysis(2025)10.1016/j.media.2025.103538
N/A
0DataRank · unranked
0 citations

Seungyeon Son, Sarah U. Morton, David Wypij, John D. Cleveland, Caitlin K. Rollins +18 more

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing

Human Mutation(2020)10.1002/humu.23971
N/A
0DataRank · unranked
4 citations

Felix Richter, Nihir Patel, Oscar L. Rodriguez, Gintaras Deikus, Hardik Shah +7 more

Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot

Cerebral Cortex(2021)10.1093/cercor/bhab114
N/A
0DataRank · unranked
17 citations

Lara Maleyeff, David Wypij, Hyuk Jin Yun, Caitlin K. Rollins, Christopher G. Watson +7 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y
N/A
0DataRank · unranked
17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study

Genetics in Medicine(2022)10.1016/j.gim.2022.04.004
N/A
0DataRank · unranked
41 citations

Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening +3 more

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62716
N/A
0DataRank · unranked
16 citations

Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Grégor Andelfinger +37 more

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32022
N/A
0DataRank · unranked
10 citations

Dante J. Rogers, Samuel J. Kroening, Abigail L Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts +10 more

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

medRxiv(2022)10.1101/2022.09.21.22280107
N/A
0DataRank · unranked
0 citations

Charles J. Billington, Niranjan Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63428
N/A
0DataRank · unranked
4 citations

Josue E. Collazo‐Lopez, Dante J. Rogers, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh +4 more

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome

Journal of the American Heart Association(2024)10.1161/jaha.123.031377
N/A
0DataRank · unranked
2 citations

Charles J. Billington, Neelam Raja, Zoë C. Wong, Mark Levin, Wolfgang Resch +20 more

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

medRxiv(2024)10.1101/2024.09.17.24313555
N/A
0DataRank · unranked
0 citations

Carolyn Β. Mervis, Mark Levin, Elisa Biamino, Maria Francesca Bedeschi, M. Cristina Digilio +11 more