Cynthia M. Powell

University of North Carolina at Chapel Hill

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 5%percentile

0.572Author 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 →

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 17 papers — median percentile 66. Top paper: “BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations”.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

Genetics in Medicine(2024)10.1016/j.gim.2024.101290

N/A

0.442DataRank · unranked

18 citations

Laura V. Milko, Elizabeth Jalazo, Blythe G. Crissman, Ann Katherine M. Foreman, Bradford C. Powell +18 more

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

Frontiers in Cellular Neuroscience(2023)10.3389/fncel.2023.1259380

N/A

0.241DataRank · unranked

4 citations

L. Perera, Sonia A. Varghese, Yael Shiloh‐Malawsky, Senyene E. Hunter, Tam P. Sneddon +4 more

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63097

N/A

0.208DataRank · unranked

3 citations

Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson +17 more

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States

Genetics in Medicine(2022)10.1016/j.gim.2022.10.012

N/A

0DataRank · unranked

19 citations

Wendy K. K. Lam, Scott D. Grosse, Jelili Ojodu, Elizabeth Jones, Lisa A. Prosser +6 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening

PEDIATRICS(2023)10.1542/peds.2023-062100

N/A

0DataRank · unranked

14 citations

Wendy K. K. Lam, Scott D. Grosse, Jelili Ojodu, Elizabeth Jones, Lisa A. Prosser +6 more

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

UNC Libraries(2023)10.17615/7dt9-nx77

N/A

0DataRank · unranked

0 citations

Senyene E. Hunter, Tam P. Sneddon, Yael Shiloh‐Malawsky, Leping Li, L. Perera +4 more

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

UNC Libraries(2024)10.17615/70cp-4332

N/A

0DataRank · unranked

0 citations

Beth Lincoln Boyea, Katerina S. Kucera, Katherine G. Langley, Paul Kruszka, Jessica Ezzell Hunter +18 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

JAMA Network Open(2020)10.1001/jamanetworkopen.2019.20356

N/A

0DataRank · unranked

66 citations

Kristin Clinard, Sarah P. Young, Catherine Rehder, Zheng Fan, Ali S. Çalıkoğlu +10 more

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Nature Medicine(2025)10.1038/s41591-025-03945-8

N/A

0DataRank · unranked

7 citations

Elizabeth Jalazo, Jonathan S. Berg, Jennifer A. Sullivan, Katerina S. Kucera, Scott M. Shone +24 more

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

medRxiv(2020)10.1101/2020.02.26.20024679

N/A

0DataRank · unranked

10 citations

Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne O’Daniel, Bryce A. Seifert +22 more

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

UNC Libraries(2020)10.17615/a9yp-1v09

N/A

0DataRank · unranked

0 citations

Akhila Satish, Wilson W. Cui, John Y. Kuwada, Weibin Zhou, Louis Saint‐Amant +12 more

Newborn Sequencing in Genomic Medicine and Public Health

UNC Libraries(2020)10.17615/p3y4-3s09

N/A

0DataRank · unranked

0 citations

Stacey Pereira, Sean D. Mooney, Anastasia L. Wise, Jennifer M. Puck, Timothy W. Yu +37 more

Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project

UNC Libraries(2020)10.17615/297q-n113

N/A

0DataRank · unranked

0 citations

John Sideris, Donald B. Bailey, Allen Buansi, Summer Choudhury, Debra Skinner +3 more

Cynthia M. Powell

Indexed papers

Top data-sharing exemplar

Papers