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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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Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

Journal of allergy and clinical immunology, 2013-06, Vol.131 (6), p.1586-1593

2013

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Coronary Artery Abnormalities in Hyper-IgE Syndrome

Journal of clinical immunology, 2011-06, Vol.31 (3), p.338-345

2011

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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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Stickler syndrome: Clinical characteristics and diagnostic criteria

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.199-207

2005

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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.62-62

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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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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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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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

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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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Journal of allergy and clinical immunology, 2019-04, Vol.143 (4), p.1482-1495

2019

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Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Blood, 2014-03, Vol.123 (13), p.1989-1999

2014

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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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Impaired T(H)17 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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Cryptococcus deuterogattii VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States

mBio, 2019-02, Vol.10 (1)

2019

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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

Immunogenetics associated with severe coccidioidomycosis

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

Coronary Artery Abnormalities in Hyper-IgE 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

Stickler syndrome: Clinical characteristics and diagnostic criteria

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

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

GATA2 at 10: Emergence of Genotype-Phenotye correlations

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

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

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

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

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

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

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

Cryptococcus deuterogattii VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States

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