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A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

Molecular genetics and metabolism, 2011-11, Vol.104 (3), p.383-389

2011

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Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use

Science signaling, 2016-01, Vol.9 (409), p.ra3

2016

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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Frontiers in immunology, 2024-08, Vol.15, p.1451212

2024

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Causes of death in hyper-IgE syndrome

Journal of allergy and clinical immunology, 2007-05, Vol.119 (5), p.1234-1240

2007

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

Journal of allergy and clinical immunology, 2010-04, Vol.125 (4), p.946-949.e6

2010

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Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

Genetics in medicine, 2012-01, Vol.14 (1), p.81-89

2012

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Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype

Journal of allergy and clinical immunology, 2015-02, Vol.135 (2), p.AB183-AB183

2015

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West Nile virus encephalitis in GATA2 deficiency

Allergy, asthma, and clinical immunology, 2019-01, Vol.15 (1), p.5-4, Article 5

2019

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In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

Haematologica (Roma), 2013-04, Vol.98 (4), p.e38-e39

2013

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Frontiers in medicine, 2017-05, Vol.4, p.62

2017

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CGDilemma: Fitting Together the Puzzle Pieces for Definitive Diagnosis

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109381, Article 109381

2023

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GATA2 at 10: Emergence of Genotype-Phenotye correlations

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109541, Article 109541

2023

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Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109577, Article 109577

2023

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Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109483, Article 109483

2023

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Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

Blood, 2021-11, Vol.138 (Supplement 1), p.1090-1090

2021

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83 STAT3 Dominant Negative Disease: NIH Cohort

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110025, Article 110025

2024

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Fr139 GASTROINTESTINAL DISEASE IN PATIENTS WITH FAMILIAL PLATELET DISORDER WITH ASSOCIATED MYELOID MALIGNANCY

Gastroenterology (New York, N.Y. 1943), 2021-05, Vol.160 (6), p.S-235-S-235

2021

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Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Nature (London), 2008-04, Vol.452 (7188), p.773-776

2008

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Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Blood, 2019-05, Vol.133 (18), p.1977-1988

2019

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Bone Marrow, Laboratory, and Clinical Features in Pediatric Patients with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)

Blood, 2023-11, Vol.142 (Supplement 1), p.4109-4109

2023

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

Blood, 2011-03, Vol.117 (10), p.2883-2886

2011

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FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

The Journal of immunology (1950), 2011-05, Vol.186 (10), p.6035-6043

2011

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A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Causes of death in hyper-IgE syndrome

Immunogenetics associated with severe coccidioidomycosis

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

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype

West Nile virus encephalitis in GATA2 deficiency

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

CGDilemma: Fitting Together the Puzzle Pieces for Definitive Diagnosis

GATA2 at 10: Emergence of Genotype-Phenotye correlations

Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism

Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?

Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

83 STAT3 Dominant Negative Disease: NIH Cohort

Fr139 GASTROINTESTINAL DISEASE IN PATIENTS WITH FAMILIAL PLATELET DISORDER WITH ASSOCIATED MYELOID MALIGNANCY

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Bone Marrow, Laboratory, and Clinical Features in Pediatric Patients with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)

Natural history study of patients with familial platelet disorder with associated myeloid malignancy

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

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

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