Paul Kruszka

Biochemistry, Genetics and Molecular Biology

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

1.0Author 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 →

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

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.120.003108

Top 20%

1.0DataRank

Top 20%26 citations

Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F Martinez +10 more

Papers

Driven by 24 papers — median percentile 80. Top paper: “Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa”.

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.120.003108

Top 20%

1.0DataRank

Top 20%26 citations

Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F Martinez +10 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

The human inactive X chromosome modulates expression of the active X chromosome

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.08.09.455676

N/A

0.406DataRank · unranked

14 citations

Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris +17 more

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Stem Cell Research(2020)10.1016/j.scr.2020.101823

N/A

0DataRank · unranked

2 citations

Deepika Arora, Barbara S. Mallon, Ariel F Martinez, Janice S. Lee, Maximilian Muenke +4 more

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant

Brain(2020)10.1093/brain/awaa177

N/A

0DataRank · unranked

2 citations

Paul Kruszka

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

Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report

Journal of Developmental Biology(2021)10.3390/jdb9040039

N/A

0DataRank · unranked

6 citations

Byron W. H. Mui, Konstantinia Almpani, Priyam Jani, Cyrus Keyvanfar, Kulsum Iqbal +14 more

Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63013

N/A

0DataRank · unranked

3 citations

Ogochukwu Sokunbi, Paul Kruszka, Maximilian Muenke, Adebowale Adeyemo, Ekanem N. Ekure

The human inactive X chromosome modulates expression of the active X chromosome

Cell Genomics(2023)10.1016/j.xgen.2023.100259

N/A

0DataRank · unranked

85 citations

Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris +17 more

The human Y and inactive X chromosomes similarly modulate autosomal gene expression

Cell Genomics(2023)10.1016/j.xgen.2023.100462

N/A

0DataRank · unranked

51 citations

Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi S. Teitz, Isani Singh +22 more

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Brain(2023)10.1093/brain/awad405

N/A

0DataRank · unranked

18 citations

Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma +25 more

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63477

N/A

0DataRank · unranked

7 citations

Anton M. Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C. Borrie +39 more

The human Y and inactive X chromosomes similarly modulate autosomal gene expression

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.05.543763

N/A

0DataRank · unranked

16 citations

Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi S. Teitz, Isani Singh +22 more

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

medRxiv(2023)10.1101/2023.03.19.23287455

N/A

0DataRank · unranked

1 citations

Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib +24 more

Clinical practice guidelines for the care of girls and women with Turner syndrome

European Journal of Endocrinology(2024)10.1093/ejendo/lvae050

N/A

0DataRank · unranked

193 citations

N.H. Andersen, Sophie Christin‐Maître, Shanlee Davis, Anthonie L. Duijnhouwer, Aneta Gawlik +71 more

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types

Cell Genomics(2024)10.1016/j.xgen.2024.100628

N/A

0DataRank · unranked

17 citations

Adrianna K. San Roman, Geryl Wood, Ashley Buscetta, Nicole Banks, Helen Skaletsky +10 more

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.18.585578

N/A

0DataRank · unranked

1 citations

Adrianna K. San Roman, Geryl Wood, Ashley Buscetta, Nicole Banks, Helen Skaletsky +10 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

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

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.003

N/A

0DataRank · unranked

16 citations

Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham +28 more

Identifying environmental risk factors and gene–environment interactions in holoprosencephaly

Birth Defects Research(2020)10.1002/bdr2.1834

N/A

0DataRank · unranked

24 citations

Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel, Maximilian Muenke +4 more

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A(2026)10.1002/ajmg.a.70145

N/A

0DataRank · unranked

0 citations

Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile +5 more

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

Environmental Health(2020)10.1186/s12940-020-00611-z

N/A

0DataRank · unranked

35 citations

Paul Kruszka, Angela Troia, Zoë C. Wong, Joshua L. Everson, Beth A. Kozel +4 more

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31772

N/A

0DataRank · unranked

4 citations

Mahim Jain, Teodoro Jerves, Paul Kruszka, Elizabeth J. McGuffey, J. Joseph Brough

Paul Kruszka

Indexed papers

Top data-sharing exemplar

Papers