Natalie Deuitch

National Human Genome Research Institute

United States

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Articles (17)

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2025

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2024

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2021

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2020

Collaborators (11)

Mahshid Azamian

Baylor College of Medicine

UNITED STATES

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Nigam H Shah

Stanford University

UNITED STATES

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Frederik Damm

Charité - Universitätsmedizin Berlin

GERMANY

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Lacey Williams

Assistant Professor

University of North Carolina

UNITED STATES

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Matthew Merguerian

Assistant Professor of Pediatric Hematology

Johns Hopkins University School of Medicine

UNITED STATES

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Kalpana Manthiram

National Institutes of Health

UNITED STATES

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Daniella Schwartz

Assistant Professor

University of Pittsburgh

UNITED STATES

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Blake Warner

National Institutes of Health

UNITED STATES

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Shuichiro Nakabo

Assistant professor

Kyoto University

JAPAN

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Seiamak Bahram

Professor of Immunology

University of Strasbourg

FRANCE

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ariane soldatos

National Institute of Neurological Disorders and Stroke

UNITED STATES

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Natalie Deuitch

Research Interests

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Articles (17)

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

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

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

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

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

A Cohort Study on Deficiency of ADA2 from China.

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

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

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

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

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.

“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

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

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

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

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

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Collaborators (11)

Mahshid Azamian

Nigam H Shah

Frederik Damm

Lacey Williams

Matthew Merguerian

Kalpana Manthiram

Daniella Schwartz

Blake Warner

Shuichiro Nakabo

Seiamak Bahram

ariane soldatos

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