Denise M. Kay

MedicineBiochemistry, 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 6%percentile

0.224Author 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-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

UNC Libraries(2024)10.17615/2btg-0082

Top 62%

0.224DataRank

Top 62%2 citations

Jessica X. Chong, NISC Comparative Sequencing Program University of Washington Center for Mendelian Genomics, Jennifer E. Posey, Cynthia A. Moore, Sanjiv Harpavat +29 more

Papers

Driven by 16 papers — median percentile 19. Top paper: “Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype”.

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype

The Journal of Clinical Endocrinology & Metabolism(2020)10.1210/clinem/dgaa160

N/A

1.4DataRank · unranked

47 citations

Nathan Pankratz, John Lane, Fábio R. Faucz, Margaret F. Keil, Prashant Chittiboina +6 more

Genetic drivers of Cushing’s disease: Frequency and associated phenotypes

Genetics in Medicine(2022)10.1016/j.gim.2022.08.021

N/A

0.576DataRank · unranked

14 citations

Nathan Pankratz, John Lane, Fábio R. Faucz, Prashant Chittiboina, Denise M. Kay +4 more

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers in Endocrinology(2020)10.3389/fendo.2020.00433

N/A

0.539DataRank · unranked

13 citations

Laura C. Hernández‐Ramírez, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martı́nez +16 more

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63185

N/A

0.292DataRank · unranked

6 citations

Aniko Sabo, Lynn M. Almli, Mary M. Jenkins, Wendy N. Nembhard, A. J. Agopian +28 more

Exome sequencing identifies variants in infants with sacral agenesis

Birth Defects Research(2022)10.1002/bdr2.1987

N/A

0.241DataRank · unranked

4 citations

Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway +21 more

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

UNC Libraries(2024)10.17615/2btg-0082

Top 62%

0.224DataRank

Top 62%2 citations

Jessica X. Chong, NISC Comparative Sequencing Program University of Washington Center for Mendelian Genomics, Jennifer E. Posey, Cynthia A. Moore, Sanjiv Harpavat +29 more

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study

Birth Defects Research(2025)10.1002/bdr2.2472

N/A

0.104DataRank · unranked

1 citations

Denise M. Kay, Faith Pangilinan, Lynn M. Almli, Mary M. Jenkins, Elizabeth Blue +24 more

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62627

N/A

0DataRank · unranked

8 citations

David Watkins, David J. Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu +15 more

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100232

N/A

0DataRank · unranked

2 citations

Janson J. White, Michael Dush, William W. Gordon, Brent Wyatt, Peter White +22 more

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101851

N/A

0DataRank · unranked

4 citations

Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai +72 more

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

Birth Defects Research(2024)10.1002/bdr2.2384

N/A

0DataRank · unranked

2 citations

Kristin J. Moore, K.E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White +19 more

Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls

Journal of Molecular Diagnostics(2021)10.1016/j.jmoldx.2021.09.007

N/A

0DataRank · unranked

5 citations

Paul A. Romitti, Marilyn L. Browne, Lawrence C. Brody, Colleen F. Stevens, James L. Mills +3 more

Exome sequencing identifies variants in infants with sacral agenesis

UNC Libraries(2024)10.17615/sevc-bn40

N/A

0DataRank · unranked

0 citations

Faith Pangilinan, Andrew F. Olshan, Richard H. Finnell, Martha M. Werler, Cynthia A. Moore +24 more

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

UNC Libraries(2024)10.17615/4645-7p40

N/A

0DataRank · unranked

0 citations

Marcia L. Feldkamp, Nathan Pankratz, Lawrence C. Brody, John W. Lane, K.M. Conway +18 more

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

UNC Libraries(2024)10.17615/j34v-vj41

Top 100%

0DataRank

Top 100%0 citations

Wendy N. Nembhard, Shiran Shapira, Andrew F. Olshan, Elizabeth Blue, Nanette M. Nascone‐Yoder +27 more

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62439

N/A

0DataRank · unranked

8 citations

Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway +17 more

Denise M. Kay

Indexed papers

Top data-sharing exemplar

Papers