Jill A. Madden

Also affiliated with Harvard University, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

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

0.373Author 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 →

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 23 papers — median percentile 52. Top paper: “Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes”.

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

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Effect of the p53 P72R Polymorphism on Mutant TP53 Allele Selection in Human Cancer

JNCI Journal of the National Cancer Institute(2021)10.1093/jnci/djab019

N/A

0DataRank · unranked

30 citations

Jill A. Madden, Devin C. Koestler, Dennis Minn, Dennis Montoya, Kay Minn +9 more

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035

N/A

0DataRank · unranked

10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genetics(2021)10.1371/journal.pgen.1009639

N/A

0DataRank · unranked

7 citations

Michal Dibus, Alicia Casey, Christina Yee, Sara O. Vargas, Shiyu Luo +15 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

European Journal of Human Genetics(2022)10.1038/s41431-022-01137-3

N/A

0DataRank · unranked

18 citations

Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao +5 more

A novel syndrome associated with prenatal fentanyl exposure

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100834

N/A

0DataRank · unranked

30 citations

Erica Fernandes, Candace Muss, Nina Powell‐Hamilton, Monica H. Wojcik, Jill A. Madden +9 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63509

N/A

0DataRank · unranked

5 citations

Qifei Li, Jill A. Madden, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz‐Abe +3 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Perinatal-lethal nonimmune fetal hydrops attributed toMECOM-associated bone marrow failure

Molecular Case Studies(2023)10.1101/mcs.a006289

N/A

0DataRank · unranked

3 citations

Jill A. Madden, Christy L. Cummings, Melissa J. Rose, S. Wilson, Mari Mori +4 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics(2020)10.1111/cge.13877

N/A

0DataRank · unranked

11 citations

Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana Chilton +7 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more

Jill A. Madden

Indexed papers

Top data-sharing exemplar

Papers