Daniel L. Kastner

Also affiliated with National Human Genome Research Institute

Biochemistry, Genetics and Molecular BiologyMedicineImmunology and Microbiology

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 7%percentile

0.165Author 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.

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis & Rheumatology(2025)10.1002/art.43412

Top 70%

0.165DataRank

Top 70%2 citations

Courtney E LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu +51 more

Papers

Driven by 41 papers — median percentile 30. Top paper: “Strategic vision for improving human health at The Forefront of Genomics”.

Strategic vision for improving human health at The Forefront of Genomics

Nature(2020)10.1038/s41586-020-2817-4

N/A

0.879DataRank · unranked

349 citations

Chris Gunter, Leslie G. Biesecker, Valentina Di Francesco, Carla Easter, Elise A. Feingold +25 more

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

Frontiers in Immunology(2022)10.3389/fimmu.2021.811473

N/A

0.680DataRank · unranked

92 citations

Ivona Aksentijevich, Natalie Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird +26 more

The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist

Arthritis & Rheumatology(2022)10.1002/art.42139

N/A

0.561DataRank · unranked

41 citations

Zehra Serap Arıcı, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl S. Barron +26 more

VEXAS Syndrome and Disease Taxonomy in Rheumatology

Arthritis & Rheumatology(2022)10.1002/art.42258

N/A

0.470DataRank · unranked

22 citations

David B. Beck, Marcela A. Ferrada, Peter A. Nigrović, Daniel L. Kastner, Peter C. Grayson

Genomic ascertainment for UBA1 variants and VEXAS syndrome: a population-based study

medRxiv(2022)10.1101/2022.07.27.22277962

N/A

0.241DataRank · unranked

4 citations

Dale L. Bodian, Vandan Shah, Uyenlinh L Mirshahi, Jung Kim, Yi Ding +11 more

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency

Journal of Human Immunity(2025)10.70962/jhi.20250018

N/A

0.208DataRank · unranked

3 citations

Rob J.W. Arts, Catherine M. Biggs, Laleh Habibi, Laura Batlle-Masó, Arjan van Laarhoven +28 more

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis & Rheumatology(2025)10.1002/art.43412

Top 70%

0.165DataRank

Top 70%2 citations

Courtney E LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu +51 more

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1

Blood Advances(2021)10.1182/bloodadvances.2021004976

N/A

0DataRank · unranked

237 citations

Bhavisha A. Patel, Emma M. Groarke, Weixin Wang, Megan Trick, Amanda K. Ombrello +15 more

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

Cell(2021)10.1016/j.cell.2021.07.026

N/A

0DataRank · unranked

140 citations

Michael Markson, Diana Legarda, Roosheel S. Patel, Mark Chan, Louise Malle +20 more

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Science Advances(2021)10.1126/sciadv.abe2116

N/A

0DataRank · unranked

50 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +28 more

Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features

Annals of the Rheumatic Diseases(2021)10.1136/annrheumdis-2020-219137

N/A

0DataRank · unranked

23 citations

Moses M. Kitakule, Brian Dizon, Cristhian A. Gutierrez‐Huerta, Sarah A. Blackstone, Aarohan M Burma +24 more

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

Pediatric Rheumatology(2021)10.1186/s12969-021-00536-y

N/A

0DataRank · unranked

12 citations

Liane Heale, Dilan Dissanayake, Wanxia Li Tsai, Massimo Gadina, Thomas L. Leto +6 more

OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1

Annals of the Rheumatic Diseases(2021)10.1136/annrheumdis-2021-eular.3422

N/A

0DataRank · unranked

0 citations

Keith A. Sikora, Yanyan Lou, Kristina V Wells, Bhavisha A. Patel, Daniela Ospina Cardona +12 more

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Blood(2022)10.1182/blood.2022016985

N/A

0DataRank · unranked

189 citations

Sinisa Savic, Daniela Ospina Cardona, Jason C. Collins, Hugh Alessi, Fernanda Gutierrez‐Rodrigues +27 more

The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2021-221801

N/A

0DataRank · unranked

135 citations

Zehra Serap Arıcı, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl S. Barron +26 more

Disorders of ubiquitylation: unchained inflammation

Nature Reviews Rheumatology(2022)10.1038/s41584-022-00778-4

N/A

0DataRank · unranked

132 citations

Achim Werner, Daniel L. Kastner, Ivona Aksentijevich, David B. Beck

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

Science(2022)10.1126/science.abm6380

N/A

0DataRank · unranked

69 citations

Anna‐Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi, Yoann Seeleuthner +57 more

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Ophthalmology(2022)10.1016/j.ophtha.2022.10.026

N/A

0DataRank · unranked

35 citations

Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone +8 more

Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism

Cell Reports(2022)10.1016/j.celrep.2022.111472

N/A

0DataRank · unranked

34 citations

Daria Chirita, Sarah Dalmon, Amandine Martin, Pauline Bronnec, Jeremy Sousa +16 more

Spectrum of clonal hematopoiesis in VEXAS syndrome

Blood(2023)10.1182/blood.2022018774

N/A

0DataRank · unranked

104 citations

Yael Kusne, Jenna Fernandez, Terra L. Lasho, Ruba Shalhoub, Xiaoyang Ma +31 more

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

New England Journal of Medicine(2023)10.1056/nejmoa2202318

N/A

0DataRank · unranked

79 citations

Sarah A. Blackstone, Gwendolyn Clay, Rachael L. Philips, Brynja Matthiasardottir, Michele Nehrebecky +36 more

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Cell Reports Medicine(2023)10.1016/j.xcrm.2023.101160

N/A

0DataRank · unranked

66 citations

Shouguo Gao, Qingyan Gao, Bhavisha A. Patel, Emma M. Groarke, Xingmin Feng +14 more

Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study

Annals of the Rheumatic Diseases(2023)10.1136/ard-2023-224732

N/A

0DataRank · unranked

10 citations

Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh Alessi, Daniel L. Kastner +7 more

A unified metric of human immune health

Nature Medicine(2024)10.1038/s41591-024-03092-6

N/A

0DataRank · unranked

48 citations

Nicholas Rachmaninoff, William W. Lau, Dylan Hirsch, Neha Bansal, Andrew J. Martins +44 more

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Nature Immunology(2024)10.1038/s41590-024-01817-w

N/A

0DataRank · unranked

34 citations

Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya +57 more

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne

Annals of the Rheumatic Diseases(2024)10.1136/ard-2023-225085

N/A

0DataRank · unranked

18 citations

Deborah L. Stone, Patrycja Hoffmann, Sofia Rosenzweig, Wanxia Li Tsai, Massimo Gadina +12 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

Racial variability in immune responses only partially explains differential systemic sclerosis disease severity

Annals of the Rheumatic Diseases(2024)10.1136/ard-2023-225458

N/A

0DataRank · unranked

5 citations

Ji Soo Kim, Adrianne Woods, G. Leatherman, Laura Gutierrez‐Alamillo, Maureen D. Mayes +18 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

Paul Hunter Plotz (1937–2024): renaissance rheumatologist, human rights advocate and mensch

Annals of the Rheumatic Diseases(2024)10.1136/ard-2024-226596

N/A

0DataRank · unranked

0 citations

John O'shea, Daniel L. Kastner, Frederick W. Miller

A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome

Journal of Allergy and Clinical Immunology Global(2025)10.1016/j.jacig.2025.100400

N/A

0DataRank · unranked

1 citations

Hongying Wang, Ivona Aksentijevich, Daniel L. Kastner, Ronald M. Laxer, Oskar Schnappauf

Features Associated with Response to Tonsillectomy in Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome in Children

The Journal of Pediatrics(2025)10.1016/j.jpeds.2025.114559

N/A

0DataRank · unranked

2 citations

Ana M. Ortega‐Villa, Sivia Lapidus, Mary Bowes, Tina Romeo, Kathryn Garguilo +8 more

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

New England Journal of Medicine(2020)10.1056/nejmoa2026834

N/A

0DataRank · unranked

1168 citations

Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei +57 more

Crosstalk Between ALPK1 and STING: A Synergistic Axis in Innate Immune Activation and Human Inflammatory Disease

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.06.30.662363

N/A

0DataRank · unranked

0 citations

Christina Torres Kozycki, Ning-Na Huang, Il-Young Hwang, Dima A. Hammoud, Daniel L. Kastner +2 more

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

Nature Immunology(2020)10.1038/s41590-020-0705-6

N/A

0DataRank · unranked

152 citations

Elaine F. Remmers, Wonyong Lee, Amanda K. Ombrello, Lawton K. Chung, Shilei Zhao +19 more

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Journal of Clinical Immunology(2020)10.1007/s10875-020-00817-3

N/A

0DataRank · unranked

40 citations

Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch +15 more

Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2

Journal of Investigative Dermatology(2020)10.1016/j.jid.2020.03.936

N/A

0DataRank · unranked

28 citations

Geethani Bandara, Yun Bai, Margery Smelkinson, Araceli Tobío, Hirsh D. Komarow +5 more

The systemic autoinflammatory diseases: Coming of age with the human genome

Journal of Allergy and Clinical Immunology(2020)10.1016/j.jaci.2020.09.014

N/A

0DataRank · unranked

5 citations

David B. Beck, Kalpana Manthiram, Yong Hwan Park, Jae Jin Chae, Elaine F. Remmers +2 more

Regulation of human development by ubiquitin chain editing of chromatin remodelers

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.01.23.917450

N/A

0DataRank · unranked

3 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +24 more

A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

UNC Libraries(2020)10.17615/qzyg-k568

N/A

0DataRank · unranked

0 citations

Ronald L. Wilder, Theodore Pincus, Damini Jawaheer, Christopher I. Amos, Peter K. Gregersen +18 more

Daniel L. Kastner

Indexed papers

Top data-sharing exemplar

Papers