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Natalie Deuitch

National Human Genome Research Institute

United States

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Research Interests

Immunology

30%

Epidemiology

20%

Rare Disease

80%

Medical Science

80%

Autoinflammatory Disease

30%

Inflammatory Biology

30%

Hemophilia

30%

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Articles17

A single nucleotide polymorphism in the TCL1A promoter is not protective in patients with germline RUNX1-FPD

Article Link

Year:

2025

Pregnancy and delivery outcomes in individuals with RUNX1‐Familial Platelet Disorder

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Year:

2025

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

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Year:

2024

Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.

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Year:

2024

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy

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Year:

2024

A Cohort Study on Deficiency of ADA2 from China.

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Year:

2023

A framework to identify ethical concerns with ML-guided care workflows: a case study of mortality prediction to guide advance care planning.

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Year:

2023

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

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Year:

2023

Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation

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Year:

2023

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.

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Year:

2022

Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

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Year:

2022

“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

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Year:

2021

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)

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Year:

2021

Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease.

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Year:

2021

Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.

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Year:

2021

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings.

Article Link

Year:

2021

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Article Link

Year:

2020

Collaborators11

Mahshid Azamian

Baylor College of Medicine

UNITED STATES

Nigam H Shah

Stanford University

UNITED STATES

Frederik Damm

Charité - Universitätsmedizin Berlin

GERMANY

Lacey Williams

Assistant Professor

University of North Carolina

UNITED STATES

Matthew Merguerian

Assistant Professor of Pediatric Hematology

Johns Hopkins University School of Medicine

UNITED STATES

Kalpana Manthiram

National Institutes of Health

UNITED STATES

Daniella Schwartz

Assistant Professor

University of Pittsburgh

UNITED STATES

Blake Warner

National Institutes of Health

UNITED STATES

Shuichiro Nakabo

Assistant professor

Kyoto University

JAPAN

Seiamak Bahram

Professor of Immunology

University of Strasbourg

FRANCE

ariane soldatos

National Institute of Neurological Disorders and Stroke

UNITED STATES

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