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D. Stone · SciRah

Researcher profile · Semantic Scholar

D. Stone

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D. Stone — researcher profile on SciRah

h-index: 29
Works: 63
Citations: 6,040

Most-cited papers

Activated STING in a Vascular and Pulmonary Syndrome
Y. Liu, A. A. Jesus, B. Marrero, D. Yang +48 more
2014New England Journal of Medicine1,230 citations Open access
Semantic Scholar
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Qing Zhou, Dan Yang, A. Ombrello, Andrey V. Zavialov +60 more
2014New England Journal of Medicine775 citations Open access
Semantic Scholar
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
G. Montealegre Sanchez, Adam L. Reinhardt, S. Ramsey, H. Wittkowski +51 more
2018Journal of Clinical Investigation478 citations Open access
Semantic Scholar
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome
Qing Zhou, Hongying Wang, D. Schwartz, M. Stoffels +37 more
2015Nature Genetics449 citations Open access
Semantic Scholar
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Qing Zhou, Geun-Shik Lee, J. Brady, S. Datta +15 more
2012American Journal of Human Genetics357 citations Open access
Semantic Scholar
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
N. Lalaoui, Steven E. Boyden, H. Oda, G. Wood +50 more
2019Nature287 citations Open access
Semantic Scholar
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
Qing Zhou, Xiao-Min Yu, E. Demirkaya, N. Deuitch +23 more
2016Proceedings of the National Academy of Sciences of the United States of America247 citations Open access
Semantic Scholar
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
D. Stone, A. Slavotinek, G. Bouffard, S. Banerjee-Basu +3 more
2000Nature Genetics219 citations
Semantic Scholar
Sustained Response and Prevention of Damage Progression in Patients With Neonatal-Onset Multisystem Inflammatory Disease Treated With Anakinra
C. Sibley, N. Plass, J. Snow, E. Wiggs +19 more
2012Arthritis & Rheumatism207 citations Open access
Semantic Scholar
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
F. Aeschlimann, E. Batu, S. Canna, E. Go +10 more
2018Annals of the Rheumatic Diseases201 citations Open access
Semantic Scholar
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
A. Brehm, Yin Liu, Afzal Sheikh, B. Marrero +39 more
2015Journal of Clinical Investigation181 citations Open access
Semantic Scholar
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
A. Brehm, Yin Liu, Afzal Sheikh, B. Marrero +39 more
2016Journal of Clinical Investigation150 citations Open access
Semantic Scholar
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
C. Carmona-Rivera, Sami S. Khaznadar, K. Shwin, Jorge A. Irizarry-Caro +10 more
2019Blood147 citations Open access
Semantic Scholar
Treatment Strategies for Deficiency of Adenosine Deaminase 2
A. Ombrello, Jing Qin, Patrycja Hoffmann, Parag Kumar +17 more
2019New England Journal of Medicine147 citations Open access
Semantic Scholar
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Y. Park, E. Remmers, Wonyong Lee, A. Ombrello +20 more
2020Nature Immunology128 citations Open access
Semantic Scholar
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome
Pragnesh Mistry, C. Carmona-Rivera, A. Ombrello, Patrycja Hoffmann +11 more
2018Annals of the Rheumatic Diseases98 citations Open access
Semantic Scholar
Anakinra Use During Pregnancy in Patients with Cryopyrin-Associated Periodic Syndromes (CAPS)
Z. Chang, Catherine Y. Spong, A. A. Jesus, Michael Davis +8 more
2014Arthritis & Rheumatology88 citations Open access
Semantic Scholar
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
K. Barron, I. Aksentijevich, N. Deuitch, D. Stone +27 more
2022Frontiers in Immunology74 citations Open access
Semantic Scholar
A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease
C. Sibley, A. Chioato, S. Felix, L. Colin +16 more
2014Annals of the Rheumatic Diseases67 citations Open access
Semantic Scholar
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
A. Giannelou, Hongying Wang, Qing Zhou, Y. Park +45 more
2018Annals of the Rheumatic Diseases57 citations Open access
Semantic Scholar
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
D. Stone, O. V. van Diggelen, J. B. C. de Klerk, J. L. Gaillard +4 more
1999European Journal of Human Genetics49 citations
Semantic Scholar
TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
N. Deuitch, Dan Yang, Pui Y. Lee, Xiao-Min Yu +28 more
2021Journal of Allergy and Clinical Immunology46 citations
Semantic Scholar
A type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20
D. Schwartz, Sarah A. Blackstone, Natalia Sampaio-Moura, Sofia Rosenzweig +11 more
2019Annals of the Rheumatic Diseases39 citations Open access
Semantic Scholar
Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1
D. Stone, A. Ombrello, J. Aróstegui, C. Schneider +10 more
2021medRxiv36 citations Open access
Semantic Scholar
Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance
O. Schnappauf, Qing Zhou, N. S. Moura, A. Ombrello +18 more
2020Journal of Clinical Immunology35 citations Open access
Semantic Scholar
Case report: Novel variants in RELA associated with familial Behcet’s-like disease
Jason W. An, Pallavi Pimpale-Chavan, D. Stone, M. Bandeira +11 more
2023Frontiers in Immunology32 citations Open access
Semantic Scholar
The deficiency of adenosine deaminase type 2-results of therapeutic intervention
A. Ombrello, D. Stone, Patrycja Hoffmann, Anne Jones +9 more
2015Pediatric Rheumatology Online Journal32 citations Open access
Semantic Scholar
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts
J. Balow, J. Ryan, J. Chae, M. Booty +8 more
2012Annals of the Rheumatic Diseases29 citations Open access
Semantic Scholar
Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis
D. Stone, Y. Ning, Xin-Yuan Guan, M. Kaiser-Kupfer +2 more
1996Human Genetics29 citations
Semantic Scholar
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease
Elaine K. Lau, N. Tayebi, L. Ingraham, S. Winfield +5 more
1999Human Genetics22 citations
Semantic Scholar
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne
Wonyong Lee, D. Stone, Patrycja Hoffmann, Sofia Rosenzweig +13 more
2024Annals of the Rheumatic Diseases20 citations Open access
Semantic Scholar
Single‐cell profiling of T lymphocytes in deficiency of adenosine deaminase 2
Zhi-Jie Wu, Shou-Guo Gao, N. Watanabe, Sai Batchu +9 more
2021Journal of Leukocyte Biology19 citations
Semantic Scholar
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
D. Schwartz, M. Kitakule, B. Dizon, Cristhian Gutierrez-Huerta +25 more
2021Annals of the Rheumatic Diseases17 citations Open access
Semantic Scholar
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single‐cell RNA sequencing of monocytes
Naoki Watanabe, Shou-Guo Gao, Zhi-Jie Wu, Sai Batchu +8 more
2021Journal of Leukocyte Biology14 citations
Semantic Scholar
Erratum: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production (Journal of Clinical Investigation (2015) 125:11 (4196-4211) DOI: 10.1172/JCI81260)
A. Brehm, Yin Liu, Afzal Sheikh, B. Marrero +39 more
201612 citations Open access
Semantic Scholar
Early Onset Stroke, Polyarteritis Nodosa, and Livedo Racemosa
D. Pichard, A. Ombrello, Patrycja Hoffmann, D. Stone +1 more
2016Journal of American Academy of Dermatology11 citations Open access
Semantic Scholar
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
F. Debenedetti, J. Antón, M. Gattorno, H. Lachmann +496 more
2017Pediatric Rheumatology Online Journal8 citations Open access
Semantic Scholar
The systemic autoinflammatory diseases: Coming of age with the human genome
D. Stone, D. Beck, K. Manthiram, Y. Park +3 more
2020Journal of Allergy and Clinical Immunology5 citations Open access
Semantic Scholar
Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)
Karyl S. Barron, A. Ombrello, D. Stone, Patrycja Hoffmann +4 more
2015Pediatric Rheumatology Online Journal5 citations Open access
Semantic Scholar
A2.35 TRNT1 missense mutations define a new periodic fever syndrome
Angeliki Giannelou, Qing Zhou, M. Stoffels, A. Ombrello +11 more
20154 citations
Semantic Scholar
Use of TNF inhibitors in the treatment of PAPA syndrome
D. Stone, A. Ombrello, A. de Jesus, Patrycja Hoffmann +4 more
2015Pediatric Rheumatology Online Journal3 citations Open access
Semantic Scholar
Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseThis article is a US Government work and, as such, is in the public domain in the United States of America.
D. Stone, N. Tayebi, E. Orvisky, B. Stubblefield +2 more
20003 citations
Semantic Scholar
PW03-017 – Combination TNF and IL-1 blockade in PAPA syndrome
Patrycja Hoffmann, A. Ombrello, D. Stone, K. Barron +1 more
2013Pediatric Rheumatology Online Journal2 citations Open access
Semantic Scholar
OP0061 Kineret® (Anakinra) Controls Disease Symptoms in Patients with Severe Cryopyrin-Associated Periodic Syndromes (CAPS): Up to 5-Year Follow-Up Data
H. Olivecrona, M. Aldén Raboisson, K. Söderberg, B. Hallén +14 more
20132 citations
Semantic Scholar
Hepatic Manifestations and Response to Treatment in Deficiency of Adenosine Deaminase 2
Mohammed Rifat Shaik, H. Alao, N. Shaik, D. Kapuria +14 more
2026Liver international (Print)1 citations
Semantic Scholar
Prospective Clinical Trial of Mycophenolate Mofetil (MMF) De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Primary Immunodeficiency (PID): MMF Is Dispensable in Reduced-Intensity Conditioning, Posttransplantation Cyclophosphamide(PTCy)-Based HCT
D. Dimitrova, S. Napier, Jennifer Sponaugle, Anita Stokes +23 more
2022Transplantation and Cellular Therapy1 citations Open access
Semantic Scholar
Distal Equine Anti-Thymocyte Globulin (ATG) As an Adjunct to Reduced Intensity Conditioning and Posttransplantation Cyclophosphamide (PTCy) for Allogeneic Hematopoietic Cell Transplantation (HCT) in Patients with Benign and Malignant Disorders of T Cell Proliferation or Dysregulation
D. Dimitrova, S. Napier, Anita Stokes, G. Uzel +14 more
20211 citations Open access
Semantic Scholar
TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency
I. Aksentijevich, Qing Zhou, A. Giannelou, A. Šedivá +9 more
2014Pediatric Rheumatology Online Journal1 citations Open access
Semantic Scholar
SAT0440 The IL-1RA Antagonist Kineret® (Anakinra) Stabilizes Hearing Loss in Patients with Severe Cryopyrin-Associated Periodic Syndromes (CAPS)
M. Leinonen, K. Söderberg, H. Olivecrona, M. A. Raboisson +9 more
20131 citations
Semantic Scholar
Biologic–Biologic and Biologic–JAK Inhibitor Combination Therapy in Refractory Systemic Autoinflammatory Diseases
A. Tufan, D. Stone, T. Romeo, Patrycja Hoffmann +7 more
2026Seminars in Arthritis & Rheumatism0 citations Open access
Semantic Scholar

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