Stephen F. Kingsmore

Also affiliated with Rady Children's Hospital-San Diego, LAM Foundation

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 3%percentile

1.7Author DataRank

Indexed papers

5in 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 5 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 →

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

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Genome Medicine(2023)10.1186/s13073-023-01166-7

Top 27%

0.752DataRank

Top 27%29 citations

Edgar J. Hernández, Charlotte A. Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin F. Juarez +9 more

Papers

Driven by 44 papers — median percentile 56. Top paper: “Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain”.

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Nature(2024)10.1038/s41586-024-07292-5

N/A

1.3DataRank · unranked

55 citations

Xiaoxu Yang, Robert F. Hevner, Katie Kennedy, Keng Ioi Vong, Yang Liu +12 more

Alternative isoform regulation in human tissue transcriptomes

Nature(2008)10.1038/nature07509

N/A

1.3DataRank · unranked

5390 citations

Rickard Sandberg, Shujun Luo, Irina Khrebtukova, Lu Zhang, Christine Mayr +4 more

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

JAMA Network Open(2023)10.1001/jamanetworkopen.2022.54069

N/A

1.2DataRank · unranked

45 citations

Meredith S. Wright, Serge Batalov, Yong-Hyun Kwon, Yan Ding, Kevin Chau +12 more

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.003

N/A

0.776DataRank · unranked

175 citations

Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson +46 more

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Genome Medicine(2023)10.1186/s13073-023-01166-7

Top 27%

0.752DataRank

Top 27%29 citations

Edgar J. Hernández, Charlotte A. Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin F. Juarez +9 more

Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016–2023*

Pediatric Critical Care Medicine(2024)10.1097/pcc.0000000000003522

Top 28%

0.728DataRank

Top 28%23 citations

Jordan Vaught, Lisa Salz, Jennifer Foley, Zaineb Boulil, Heather M. Van Dongen-Trimmer +10 more

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

npj Genomic Medicine(2024)10.1038/s41525-024-00404-0

N/A

0.659DataRank · unranked

80 citations

Russell Nofsinger, Kasia Ellsworth, Stephen F. Kingsmore

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

Nature Communications(2023)10.1038/s41467-023-38044-0

N/A

0.494DataRank · unranked

26 citations

Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner +46 more

Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

Scientific Reports(2021)10.1038/s41598-021-96374-9

N/A

0.457DataRank · unranked

20 citations

Heli Tiensuu, Antti M. Haapalainen, Anu Pasanen, Pinja Tissarinen, Minna K. Karjalainen +10 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

N/A

0.396DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 more

Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics

Cell(2023)10.1016/j.cell.2023.11.024

N/A

0.396DataRank · unranked

13 citations

Gabriel W. Hassler, Ezra Kurzban, Madison Schwab, Sarah A. Perkins, Karthik Gangavarapu +95 more

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial

BMJ Open(2025)10.1136/bmjopen-2024-098609

N/A

0.312DataRank · unranked

7 citations

Miranda Bailey, Chester Brown, Kee Chan, Tom Defay, Terri H. Finkel +9 more

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders

Cell stem cell(2025)10.1016/j.stem.2025.10.006

Top 61%

0.241DataRank

Top 61%4 citations

Y. Nakamura, Junhao Li, David Sievert, Yang Liu, Toan D. Nguyen +16 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

Response to Grosse et al.

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.004

N/A

0.104DataRank · unranked

1 citations

Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson +46 more

The Role of Genome Sequencing in Neonatal Intensive Care Units

Annual Review of Genomics and Human Genetics(2022)10.1146/annurev-genom-120921-103442

N/A

0DataRank · unranked

92 citations

F. Sessions Cole, Stephen F. Kingsmore

2022: A pivotal year for diagnosis and treatment of rare genetic diseases

Molecular Case Studies(2022)10.1101/mcs.a006204

N/A

0DataRank · unranked

9 citations

Stephen F. Kingsmore

Contributors

Genomic and Personalized Medicine(2013)10.1016/b978-0-12-382227-7.00124-5

N/A

0DataRank · unranked

0 citations

Minhaz Uddin Ahmed, Sun Hee Ahn, R. Rand Allingham, Jude Alsarraj, Matthew L. Anderson +228 more

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

Frontiers in Pediatrics(2023)10.3389/fped.2023.1157630

N/A

0DataRank · unranked

11 citations

Elliot A. Perens, Nicole G. Coufal, Erica Sanford Kobayashi, Stephen F. Kingsmore, David Dimmock +1 more

The Genomic landscape of short tandem repeats across multiple ancestries

PLoS ONE(2023)10.1371/journal.pone.0279430

N/A

0DataRank · unranked

8 citations

Serge Batalov, Yan Ding, Erica Sanford Kobayashi, Stephen F. Kingsmore, David Dimmock +3 more

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

Preprints.org(2023)10.20944/preprints202309.2039.v1

N/A

0DataRank · unranked

10 citations

Zhanzhi Hu, Lynn Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore +4 more

Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics

medRxiv(2023)10.1101/2023.03.14.23287217

N/A

0DataRank · unranked

3 citations

Gabriel W. Hassler, Ezra Kurzban, Madison Schwab, Sarah A. Perkins, Karthik Gangavarapu +95 more

Isolated Absent Aortic Valve

JACC Case Reports(2023)10.1016/j.jaccas.2023.101790

N/A

0DataRank · unranked

0 citations

Paul Grossfeld, Stephen F. Kingsmore, Yan Ding, Lisa A. Vargas, Dan Dyar +3 more

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.020

N/A

0DataRank · unranked

13 citations

Meredith S. Wright, L. Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj +30 more

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.021

N/A

0DataRank · unranked

11 citations

Meredith S. Wright, Laurie D. Smith, Yupu Liang, William R. Mowrey, Liana Protopsaltis +40 more

Novel variants inTECRLleading to catecholaminergic polymorphic ventricular tachycardia

Life Science Alliance(2024)10.26508/lsa.202402572

N/A

0DataRank · unranked

5 citations

J. Härtung, Elizabeth LaSalle, Alejandro Borquez, Viridiana Murillo, Lucia Guidugli +4 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 more

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

npj Genomic Medicine(2025)10.1038/s41525-025-00506-3

N/A

0DataRank · unranked

0 citations

Edwin F. Juarez, Barry Moore, Edgar J. Hernández, Erwin Frise, Jianrong Li +8 more

Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks

medRxiv(2025)10.1101/2025.11.26.25341098

N/A

0DataRank · unranked

0 citations

Gretchen Bandoli, Daniel Helbling, Rebecca J. Baer, Eric Blincow, Bryant Cao +15 more

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

International Journal of Neonatal Screening(2023)10.3390/ijns9040063

N/A

0DataRank · unranked

13 citations

Zhanzhi Hu, Lynn Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore +4 more

Contributors

Genomic and Personalized Medicine(2009)10.1016/b978-0-12-369420-1.00122-0

N/A

0DataRank · unranked

0 citations

Matthew L. Anderson, Felicita Andreotti, Brian H. Annex, Anthony Antonellis, Dmitri Artemov +272 more

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.003

N/A

0DataRank · unranked

191 citations

Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara Caylor, Christina Clarke +62 more

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.004

N/A

0DataRank · unranked

99 citations

David Dimmock, Sara Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett +4 more

Disease Progression in Hemodynamically Stable Patients Presenting to the Emergency Department With Sepsis

UNC Libraries(2020)10.17615/car9-0895

N/A

0DataRank · unranked

3 citations

Lawrence T. Glickman, Charles B. Cairns, Vance G. Fowler, Jennifer C. van Velkinburgh, Emanuel P. Rivers +7 more

Discriminative Value of Inflammatory Biomarkers for Suspected Sepsis

UNC Libraries(2020)10.17615/akmk-2y58

N/A

0DataRank · unranked

1 citations

Lawrence P. Park, Jennifer C. van Velkinburgh, Seth W. Glickman, Stephen F. Kingsmore, Vance G. Fowler +5 more

Gene Expression-Based Classifiers Identify Staphylococcus aureus Infection in Mice and Humans

UNC Libraries(2020)10.17615/rsrb-yc76

N/A

0DataRank · unranked

0 citations

Emanuel P. Rivers, Charles B. Cairns, Aimee K. Zaas, Derek D. Cyr, Jennifer C. van Velkinburgh +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

Multiplex PCR To Diagnose Bloodstream Infections in Patients Admitted from the Emergency Department with Sepsis

UNC Libraries(2020)10.17615/drhc-0m16

N/A

0DataRank · unranked

0 citations

Vance G. Fowler, Oliver Liesenfeld, Emanuel P. Rivers, Bradly P. Nicholson, Daphne Jones +12 more

Host gene expression classifiers diagnose acute respiratory illness etiology

UNC Libraries(2020)10.17615/xx17-pz54

N/A

0DataRank · unranked

0 citations

Ronny Otero, Thomas W. Burke, Joseph E. Lucas, Seth W. Glickman, Lori L. Hudson +19 more

Renal systems biology of patients with systemic inflammatory response syndrome

UNC Libraries(2020)10.17615/0g2p-b730

N/A

0DataRank · unranked

0 citations

Anja Kathrin Jaehne, Emanuel P. Rivers, Robert P. Mohney, Eric S. Mayer, Charles B. Cairns +16 more

An integrated transcriptome and expressed variant analysis of sepsis survival and death

UNC Libraries(2020)10.17615/mcyw-0m33

Top 100%

0DataRank

Top 100%0 citations

Darrell L. Dinwiddie, Lawrence Carin, Micah T. McClain, Ronny Otero, Stephen F. Kingsmore +19 more

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

npj Genomic Medicine(2021)10.1038/s41525-021-00192-x

N/A

0DataRank · unranked

76 citations

Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor +8 more

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

npj Genomic Medicine(2021)10.1038/s41525-021-00206-8

N/A

0DataRank · unranked

6 citations

Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor +8 more

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

npj Genomic Medicine(2021)10.1038/s41525-021-00205-9

N/A

0DataRank · unranked

5 citations

Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor +8 more

Stephen F. Kingsmore

Indexed papers

Top data-sharing exemplar

Papers