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R. Abraham · SciRah

Researcher profile · Semantic Scholar

R. Abraham

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R. Abraham — researcher profile on SciRah

h-index: 41
Works: 209
Citations: 7,135

Most-cited papers

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
I. Meyts, G. Bucciol, I. Quinti, B. Neven +51 more
2020Journal of Allergy and Clinical Immunology311 citations Open access
Semantic Scholar
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions
C. Dvorak, Elie Haddad, J. Heimall, Elizabeth A. Dunn +15 more
2022Journal of Allergy and Clinical Immunology104 citations Open access
Semantic Scholar
Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution.
K. Sacco, R. Abraham
2018Immunotherapy104 citations
Semantic Scholar
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
T. Le Voyer, Audrey V. Parent, Xian Liu, Axel Cederholm +137 more
2023Nature90 citations Open access
Semantic Scholar
A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity)
I. Bin Riaz, W. Faridi, M. Patnaik, R. Abraham
2019Frontiers in Immunology89 citations Open access
Semantic Scholar
Use of Genetic Testing for Primary Immunodeficiency Patients
J. Heimall, D. Hagin, J. Hajjar, S. Henrickson +15 more
2018Journal of Clinical Immunology86 citations
Semantic Scholar
Clinical efficacy of gene-modified stem cells in adenosine deaminase–deficient immunodeficiency
K. Shaw, E. Garabedian, Suparna Mishra, Provaboti Barman +40 more
2017Journal of Clinical Investigation76 citations Open access
Semantic Scholar
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Pui Y. Lee, B. Davidson, R. Abraham, B. Alter +37 more
2023JAMA Network Open74 citations Open access
Semantic Scholar
PAX1 is essential for development and function of the human thymus
Y. Yamazaki, R. Urrutia, L. M. Franco, S. Giliani +24 more
2020Science immunology73 citations Open access
Semantic Scholar
Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.
J. Farmer, Z. Foldvari, B. Ujházi, S. D. de Ravin +71 more
2019Journal of Allergy and Clinical Immunology: In Practice69 citations Open access
Semantic Scholar
Gastrointestinal Manifestations in X-linked Agammaglobulinemia
Sara Barmettler, I. Otani, J. Minhas, R. Abraham +6 more
2017Journal of Clinical Immunology59 citations Open access
Semantic Scholar
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
M. Cousin, Erin Conboy, Jian-She Wang, D. Lenz +25 more
2019American Journal of Human Genetics50 citations Open access
Semantic Scholar
Activating mutations in PIK3CD and murine CD4+ T cells
Julia Bier, G. Rao, Kathryn J. Payne, Henry Brigden +24 more
2019Journal of Allergy and Clinical Immunology49 citations Open access
Semantic Scholar
Clinical Correlation of Cytomegalovirus Infection With CMV-specific CD8+ T-cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients
Atibordee Meesing, R. Abraham, R. Razonable
2019Transplantation42 citations Open access
Semantic Scholar
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity
L. Perelygina, Raeesa Faisthalab, E. Abernathy, Min-Hsin Chen +36 more
2021Frontiers in Immunology34 citations Open access
Semantic Scholar
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions
C. Dvorak, Elie Haddad, J. Heimall, Elizabeth A. Dunn +47 more
2022Journal of Allergy and Clinical Immunology33 citations Open access
Semantic Scholar
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
J. Yonkof, Ajay Gupta, C. Rueda, S. Mangray +6 more
2020Frontiers in Immunology31 citations Open access
Semantic Scholar
Clinical correlates and treatment outcomes for patients with short telomere syndromes
A. Mangaonkar, A. Ferrer, F. Vairo, M. Cousin +16 more
2018Mayo Clinic proceedings31 citations Open access
Semantic Scholar
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
R. Lévy, F. Gothe, M. Momenilandi, T. Magg +78 more
2022Journal of Experimental Medicine30 citations Open access
Semantic Scholar
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
M. Cousin, Matthew J. Smith, Ashley N. Sigafoos, Jay J. Jin +11 more
2018Journal of Clinical Immunology26 citations
Semantic Scholar
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Tina Nguyen, A. Lau, Julia Bier, Kristen C. Cooke +25 more
2023Journal of Experimental Medicine25 citations Open access
Semantic Scholar
Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease
Prabha Chandrasekaran, Yu Han, Christa S. Zerbe, Theo Heller +53 more
2023Journal of Allergy and Clinical Immunology24 citations Open access
Semantic Scholar
Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant.
Kelsey Lecerf, D. Koboldt, H. Kuehn, V. Jayaraman +12 more
2022Rheumatology24 citations Open access
Semantic Scholar
Next-generation sequencing for inborn errors of immunity.
Kristy Lee, R. Abraham
2021Human Immunology24 citations
Semantic Scholar
Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome
Meera Sridharan, R. Go, R. Abraham, F. Fervenza +5 more
2018Mayo Clinic proceedings24 citations
Semantic Scholar
Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults.
Miguel Park, Sarah M. Jenkins, Carin Y. Smith, Regan C Pyle +6 more
2021Vaccine22 citations
Semantic Scholar
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1‐congenital disorder of glycosylation) and response to l‐fucose therapy: Insights from two new families and review of the literature
Shawn Tahata, K. Raymond, Marie A Quade, S. Barnes +7 more
2022American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation.
R. Abraham
2020Hematology. American Society of Hematology. Education Program21 citations Open access
Semantic Scholar
Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases)
Annely M. Richardson, A. Moyer, L. Hasadsri, R. Abraham
2018Current Allergy and Asthma Reports21 citations
Semantic Scholar
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
Noemi Vidal-Folch, D. Milošević, R. Majumdar, D. Gavrilov +6 more
2017Journal of Molecular Diagnostics19 citations Open access
Semantic Scholar
The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity.
R. Abraham, M. Butte
2021Journal of Allergy and Clinical Immunology: In Practice16 citations
Semantic Scholar
The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies.
A. Parker, Miguel Park, S. Harding, R. Abraham
2019Vaccine16 citations Open access
Semantic Scholar
Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.
D. Buchbinder, Matthew J. Smith, Misako Kawahara, M. Cowan +2 more
2018Blood Advances16 citations Open access
Semantic Scholar
Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).
Sara Barmettler, K. Coffey, Matthew J. Smith, H. Chong +4 more
2020Journal of Allergy and Clinical Immunology: In Practice15 citations
Semantic Scholar
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development
D. Nichols-Vinueza, O. Delmonte, V. Bundy, M. Bosticardo +13 more
2020Journal of Clinical Immunology15 citations Open access
Semantic Scholar
WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene.
J. Dorn, Mrinal S. Patnaik, Michelle Van Hee, Matthew J. Smith +4 more
2017Journal of Allergy and Clinical Immunology: In Practice15 citations
Semantic Scholar
Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination.
Y. Sheen, Sarah Kizilbash, E. Ryoo, C. Wi +5 more
2019Journal of Asthma14 citations Open access
Semantic Scholar
Lost in translation: Lack of CD4 expression due to a novel genetic defect.
A. Lisco, Peying Ye, Chun-Shu Wong, Luxin Pei +18 more
2021Journal of Infectious Diseases12 citations Open access
Semantic Scholar
NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease
K. Sacco, Matthew J. Smith, S. Bahna, D. Buchbinder +6 more
2019Journal of Clinical Immunology12 citations
Semantic Scholar
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices
Vijaya Knight, J. Heimall, N. Wright, C. Dutmer +3 more
2020International Journal of Neonatal Screening11 citations Open access
Semantic Scholar
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
P. Blackburn, Wen-Lang Lin, David A. Miller, O. Lorenzo-Betancor +13 more
2019Journal of Neuropathology and Experimental Neurology11 citations Open access
Semantic Scholar
Assessment of Functional Immune Responses in Lymphocytes
R. Abraham
2019Clinical Immunology10 citations
Semantic Scholar
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation.
N. Rastogi, R. Abraham, Ritu Chadha, D. Thakkar +3 more
2017Journal of pediatric hematology/oncology10 citations
Semantic Scholar
Acquired B-cell deficiency secondary to B-cell-depleting therapies.
Annaliesse Blincoe, Roxane Labrosse, R. Abraham
2022JIM - Journal of Immunological Methods9 citations
Semantic Scholar
Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination
S. Chiarella, Sarah M. Jenkins, Miguel Park, R. Abraham +1 more
2021Annals of Allergy, Asthma & Immunology9 citations Open access
Semantic Scholar
Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency; a comprehensive kindred study
C. Haddox, Ryan M. Carr, R. Abraham, J. P. Botero +3 more
2019Leukemia and Lymphoma7 citations Open access
Semantic Scholar
Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)
Lisa M. Marinelli, Elizabeth H. Ristagno, P. Fischer, R. Abraham +1 more
2020BMJ Case Reports6 citations Open access
Semantic Scholar
“The State of the Union”: Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases
N. Hartog, Kelli W. Williams, R. Abraham
2019Frontiers in Immunology6 citations Open access
Semantic Scholar
A Case of Atypical, Complete DiGeorge Syndrome without 22q11 Mutation
C. Stone, M. Markert, R. Abraham, A. Norton
2017Annals of Allergy, Asthma & Immunology6 citations Open access
Semantic Scholar
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar
Ágnes P. Donkó, D. Kuhns, M. Cousin, Matthew J. Smith +7 more
2022Journal of Clinical Immunology5 citations
Semantic Scholar

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