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Morgan Similuk | Researchclopedia

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Morgan Similuk

National Institutes of Health ORCID

94

Works

2,695

Citations

19

h-index

29

i10-index

Research Topics

Immunodeficiency and Autoimmune Disorders Genomics and Rare Diseases BRCA gene mutations in cancer

Affiliations

National Institutes of Health2015–2026

Georgetown University2017–2017

National Institute of Allergy and Infectious Diseases2015–2026

Office of Extramural Research2020–2023

International Trachoma Initiative2024–2024

Top Works

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler,Leigh Carmody,et al.

2018734 citations

Biomedical Text Mining and Ontologies

Blood disorders and treatments

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Elise M. N. Ferré,Stacey Rose,et al.

2016296 citations

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Kent Shefchek,Nomi L. Harris,et al.

2019264 citations

Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn’s disease

Liming Mao,Atsushi Kitani,et al.

2018106 citations

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Sarah A. Cook,William A. Comrie,et al.

202099 citations

Mondo: Unifying diseases for the world, by the world

Nicole Vasilevsky,Nicolas Matentzoglu,et al.

202298 citations

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Jahnavi Aluri,Alicia Bach,et al.

202098 citations

PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology

Ling Luo,Shankai Yan,et al.

202174 citations

Genotype first: Clinical genomics research through a reverse phenotyping approach

Caralynn M. Wilczewski,Justice Obasohan,et al.

202370 citations