João Bosco
Oliveira Filho.

2026 · Pediatric Research

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants

DOI: 10.1038/s41390-026-04861-4

2026 · Human Genetics and Genomics Advances

Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project

DOI: 10.1016/j.xhgg.2026.100624

2025 · Journal of Human Genetics

ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing

DOI: 10.1038/s10038-025-01349-7

2025 · Blood Global Hematology

First Latin America description of myelodysplastic syndrome caused by a novel homozygous missense variant in the ERCC6L2 gene

DOI: 10.1016/j.bglo.2025.100022

2025 · The Cerebellum

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders

DOI: 10.1007/s12311-025-01828-9

2024 · Journal of Molecular Diagnostics

Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort

DOI: 10.1016/j.jmoldx.2024.06.002

2024 · American Journal of Medical Genetics Part A

CNOT1 p. Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

DOI: 10.1002/ajmg.a.63836

2024 · American Journal of Medical Genetics Part A

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review

DOI: 10.1002/ajmg.a.63602

2024 · Movement Disorders Clinical Practice

Hereditary Truncal Dystonia Associated with ANO3 Gene Variant

DOI: 10.1002/mdc3.14308

2024 · Clinical Genetics

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort

DOI: 10.1111/cge.14666

2023 · International Journal for Equity in Health

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

DOI: 10.1186/s12939-022-01809-y

2023 · Parkinsonism & Related Disorders

Fragile X premutation mimicking late onset hereditary spastic paraplegia

DOI: 10.1016/j.parkreldis.2023.105964

2023 · Clinical and Translational Oncology

Real-world genomic profiling of acute myeloid leukemia and the impact of European LeukemiaNet risk stratification 2022 update

DOI: 10.1007/s12094-023-03195-5

2023 · Human Genomics

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

DOI: 10.1186/s40246-023-00549-6

2022 · Journal of Allergy and Clinical Immunology: Global

Efficacy of Dupilumab for the treatment of severe skin disease in Cytotoxic T-Lymphocyte Antigen-4 Insufficiency: a role of type 2 inflammation?

DOI: 10.1016/j.jacig.2022.08.004

2022 · Frontiers in Genetics

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

DOI: 10.3389/fgene.2022.921324

2022 · Journal of Clinical Immunology

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil

DOI: 10.1007/s10875-022-01302-9

2022 · Scientific Reports

Neoadjuvant chemotherapy or upfront surgery in localized pancreatic cancer: a contemporary analysis

DOI: 10.1038/s41598-022-17743-6

2022 · Frontiers in Molecular Biosciences

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

DOI: 10.3389/fmolb.2022.821582

2022 · European Journal of Human Genetics

The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

DOI: 10.1038/s41431-022-01098-7

2022 · Clinical Genetics

Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis

DOI: 10.1111/cge.14118

2021 · Frontiers in Immunology

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

DOI: 10.3389/fimmu.2021.721289

2021 · Arquivos Brasileiros de Cardiologia

Diretrizes Brasileiras de Hipertensão Arterial - 2020

DOI: 10.36660/abc.20201238

2021 · Parkinsonism & Related Disorders

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation

DOI: 10.1016/j.parkreldis.2021.10.008

2020 · Rheumatology International

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies

DOI: 10.1007/s00296-020-04683-5

2019 · Neurological Sciences

Guillain-Barre syndrome-the challenge of unrecognized triggers

DOI: 10.1007/s10072-019-03926-z

2017 · American Heart Journal

Atorvastatin for high-risk statin-naive patients undergoing noncardiac surgery: The Lowering the Risk of Operative Complications Using Atorvastatin Loading Dose (LOAD) randomized trial

DOI: 10.1016/j.ahj.2016.11.001

2017 · Journal of Global Oncology

DNA Repair Defect and RAS Mutation in Two Patients With Schistosoma mansoni -Associated Colorectal Cancer: Carcinogenesis Steps or Mere Coincidence?

DOI: 10.1200/jgo.2016.006254

2016 · Results in Immunology

Constitutive expression of genes encoding notch receptors and ligands in developing lymphocytes, nTreg cells and dendritic cells in the human thymus

DOI: 10.1016/j.rinim.2016.04.001

2015 · The Journal of Clinical Investigation

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

DOI: 10.1172/jci80477

2015 · Journal of Clinical Immunology

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

DOI: 10.1007/s10875-015-0150-8

2015 · Blood

JMML and RALD (RAS-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities

DOI: 10.1182/blood-2014-11-567917

2015 · Forensic Science International

Mutations of desmoglein-2 in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexplained death

DOI: 10.1016/j.forsciint.2015.07.052

2015 · BMC Cancer

Quantitative proteomic analysis shows differentially expressed HSPB1 in glioblastoma as a discriminating short from long survival factor and NOVA1 as a differentiation factor between low-grade astrocytoma and oligodendroglioma

DOI: 10.1186/s12885-015-1473-9

2014 · Human Immunology

Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

DOI: 10.1016/j.humimm.2014.04.006

2014 · European Journal of Neurology

Cryopyrin associated periodic syndrome with neurological involvement in a 50-year-old patient

DOI: 10.1111/ene.12313

2014 · Journal of Clinical Immunology

ICON: The Early Diagnosis of Congenital Immunodeficiencies

DOI: 10.1007/s10875-014-0003-x

2014 · Science

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

DOI: 10.1126/science.1255904

2014 · Blood

Marginal zone B-cell dysfunction in ALPS

DOI: 10.1182/blood-2014-07-585935

2013 · Proceedings of the National Academy of Sciences of the United States of America

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK

DOI: 10.1073/pnas.1221211110

2013 · Journal of Clinical Immunology

Compound Heterozygous RAG2 Mutations Mimicking Hyper IgM Syndrome

DOI: 10.1007/s10875-013-9956-4

2013 · Nature Immunology

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110-delta result in T cell senescence and human immunodeficiency

DOI: 10.1038/ni.2771

2013 · Blood

Loss-of-function of the protein kinase C delta causes a B cell lymphoproliferative syndrome in humans

DOI: 10.1182/blood-2012-12-469544

2013 · Current Opinion in Pediatrics

The expanding spectrum of the autoimmune lymphoproliferative syndromes

DOI: 10.1097/mop.0000000000000032

2013 · PLOS ONE

Upregulation of Innate Antiviral Restricting Factor Expression in the Cord Blood and Decidual Tissue of HIV-Infected Mothers

DOI: 10.1371/journal.pone.0084917

2012 · Clinical Immunology

CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome

DOI: 10.1016/j.clim.2012.01.014

2012 · Journal of Clinical Immunology

Erratum to: hereditary autoinflammatory syndromes: a Brazilian Multicenter Study

DOI: 10.1007/s10875-012-9715-y

2012 · Journal of Clinical Immunology

Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study

DOI: 10.1007/s10875-012-9688-x

2012 · Current Opinion in Allergy and Clinical Immunology

Monogenic defects in lymphocyte apoptosis

DOI: 10.1097/aci.0b013e3283588da0

2011 · Human Pathology

Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study

DOI: 10.1016/j.humpath.2011.06.014

2011 · Journal of Clinical Immunology

Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

DOI: 10.1007/s10875-011-9623-6

2011 · The Journal of Immunology

FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome

DOI: 10.4049/jimmunol.1100021

2011 · Blood

How I treat autoimmune lymphoproliferative syndrome

DOI: 10.1182/blood-2011-07-325217

2011 · Circulation Journal

PKP2 Mutations in Sudden Death From Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Sudden Unexpected Death With Negative Autopsy (SUDNA)

DOI: 10.1253/circj.cj-11-0747

2011 · Blood

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

DOI: 10.1182/blood-2010-07-295501

2011 · Blood

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

DOI: 10.1182/blood-2011-07-368084

2010 · Immunity

ALPS - Ten Lessons from an International Workshop on a Genetic Disease of Apoptosis

DOI: 10.1016/j.immuni.2010.03.013

2010 · Blood

Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia

DOI: 10.1182/blood-2010-05-286161

2010 · Journal of Allergy and Clinical Immunology

Laboratory evaluation of primary immunodeficiencies

DOI: 10.1016/j.jaci.2009.08.043

2010 · Current Allergy and Asthma Reports

Molecular- and Flow Cytometry-based Diagnosis of Primary Immunodeficiency Disorders

DOI: 10.1007/s11882-010-0137-8

2010 · Jornal de Pediatria

Pediatric hereditary autoinflammatory syndromes

DOI: 10.2223/jped.2015

2010 · Cardiovascular Pathology

Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy

DOI: 10.1016/j.carpath.2010.11.002

2010 · Blood

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop

DOI: 10.1182/blood-2010-04-280347

2010 · Jornal de Pediatria

Sindromes autoinflamatorias hereditarias na faixa etaria pediatrica

DOI: 10.1590/s0021-75572010000500003

2010 · Blood

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome (ALPS)

DOI: 10.1182/blood-2010-01-263145

2010 · Journal of Allergy and Clinical Immunology

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

DOI: 10.1016/j.jaci.2009.12.983

2009 · Clinical Chemistry

Functional Flow Cytometry Testing: An Emerging Approach for the Evaluation of Genetic Disease

DOI: 10.1373/clinchem.2008.119248

2009 · Scandinavian Journal of Immunology

Molecular Characterization of Patients with X-linked Hyper-IgM Syndrome: Description of Two Novel CD40L Mutations

DOI: 10.1111/j.1365-3083.2008.02198.x

2008 · Current Opinion in Allergy and Clinical Immunology

Applications of flow cytometry for the study of primary immune deficiencies

DOI: 10.1097/aci.0b013e328312c790

2008 · Journal of Clinical Immunology

Autoimmunity in Hyper-IgM Syndrome

DOI: 10.1007/s10875-008-9171-x

2008 · Biology Direct

Critical role for BIM in T cell receptor restimulation-induced death

DOI: 10.1186/1745-6150-3-34

2008 · Journal of Clinical Immunology

Disorders of Apoptosis: Mechanisms for Autoimmunity in Primary Immunodeficiency Diseases

DOI: 10.1007/s10875-007-9161-4

2008 · Arquivos Brasileiros de Cardiologia

Evolucao clinica muito tardia de pacientes com infarto agudo do miocardio submetidos a angioplastia primaria

DOI: 10.1590/s0066-782x2008000400002

2008 · Arquivos Brasileiros de Cardiologia

Fatores de risco para acidente vascular encefalico apos cirurgia de revascularizacao do miocardio

DOI: 10.1590/s0066-782x2008001600005

2008 · Revista Brasileira de Terapia Intensiva

How to critically assess intensive care cohort studies?

2008 · Journal of Clinical Immunology

Phenotype-Genotype Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS): Description of a Rare Non-Exon 3 and a Novel CIAS1 Missense Mutation

DOI: 10.1007/s10875-007-9150-7

2008 · European Journal of Pediatrics

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

DOI: 10.1007/s00431-008-0685-2

2008 · Journal of Clinical Immunology

Understanding Systemic Lupus Erythematosus Physiopathology in the Light of Primary Immunodeficiencies

DOI: 10.1007/s10875-008-9187-2

2007 · Clinical Immunology

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Caused by Homozygous P326L AIRE Mutations in a Brazilian Family

DOI: 10.1016/j.clim.2007.03.295

2007 · Revista da Sociedade Brasileira de Clinica Medica

Fatores Determinantes de Sindrome Coronariana Aguda com Arterias Coronarias Normais

2007 · Arquivos Brasileiros de Cardiologia

Fibrilacao atrial no pos-operatorio de cirurgia de revascularizacao do miocardio: caracteristicas do perfil clinico associadas a obitos hospitalares

DOI: 10.1590/s0066-782x2007001300004

2007 · Revista Brasileira de Terapia Intensiva

How to critically assess systematic reviews and meta-analyses?

2007 · Proceedings of the National Academy of Sciences of the United States of America

NRAS mutation causes a human autoimmune lymphoproliferative syndrome

DOI: 10.1073/pnas.0702975104

2007 · Blood

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

DOI: 10.1182/blood-2007-04-082552

2007 · Clinical Immunology

Warning Signs for Primary Immunodeficiences Investigation in Hospitalized Patients

DOI: 10.1016/j.clim.2007.03.309

2005 · Current Opinion in Allergy and Clinical Immunology

Autoimmune lymphoproliferative syndrome

2005 · Israel Medical Association Journal

Autoimmune lymphoproliferative syndrome

2004 · Journal of Allergy and Clinical Immunology

Functional and molecular evaluation of lymphocytes

DOI: 10.1016/j.jaci.2004.06.001