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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Frontiers in immunology, 2022-06, Vol.13

2022

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Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing

European journal of medical genetics, 2020-05, Vol.63 (5), p.103920-103920, Article 103920

2020

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FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Frontiers in immunology, 2020-01, Vol.11, p.107-107

2020

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OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers

Journal of clinical immunology, 2024-04, Vol.44 (4), p.95, Article 95

2024

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Somatic genetic variation in healthy tissue and non-cancer diseases

European journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.48-54

2023

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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency

Journal of clinical immunology, 2024-02, Vol.44 (2), p.54-54, Article 54

2024

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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism

Journal of clinical immunology, 2023-11, Vol.43 (8), p.1953-1963

2023

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Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders

Scientific reports, 2021-08, Vol.11 (1), p.17030-17030, Article 17030

2021

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Assessment of the gene mosaicism burden in blood and its implications for immune disorders

Scientific reports, 2021-06, Vol.11 (1), p.12940-12940, Article 12940

2021

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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

Frontiers in immunology, 2022-11, Vol.13, p.1014984-1014984

2022

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Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual

Frontiers in genetics, 2020-01, Vol.10, p.1315-1315

2020

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[Translated article] Treatment of juvenile recurrent respiratory papillomatosis in a pediatric lung transplant recipient

Farmacia hospitalaria, 2024-05

2024

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Tratamiento de la papilomatosis recurrente respiratoria juvenil en un paciente pediátrico receptor de trasplante pulmonar

Farmacia hospitalaria, 2024-03

2024

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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Frontiers in immunology, 2022, Vol.13, p.897975-897975

2022

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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers

Somatic genetic variation in healthy tissue and non-cancer diseases

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism

Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders

Assessment of the gene mosaicism burden in blood and its implications for immune disorders

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual

[Translated article] Treatment of juvenile recurrent respiratory papillomatosis in a pediatric lung transplant recipient

Tratamiento de la papilomatosis recurrente respiratoria juvenil en un paciente pediátrico receptor de trasplante pulmonar

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

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