Mariko Nakano-Okuno

The University of Alabama

United States

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Articles (16)

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2024

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2024

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

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2023

Collaborators (16)

Krishna P Bhat

UNITED STATES

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Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

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Mahshid Azamian

Baylor College of Medicine

UNITED STATES

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Linlea Armstrong

Clinical Associate Professor

The University of British Columbia

CANADA

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Mario Saporta

ASSOCIATE PROFESSOR

University of Miami School of Medicine

UNITED STATES

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Crystal Smith

Assistant Research Professor

Washington State University - Spokane

UNITED STATES

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Frederick K. Kozak

Clinical Professor

The University of British Columbia

CANADA

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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Sharon Gorski

Affiliate Professor

The University of British Columbia

CANADA

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Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

UNITED STATES

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Véronique Pingault

FRANCE

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Mustafa Tekin

University of Miami

UNITED STATES

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Patricia Dickson

Professor

Washington University in St. Louis

UNITED STATES

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Nita Limdi

UNITED STATES

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Annelot Clementine Mathilda van Esbroeck

Assistant Professor

Erasmus MC

NETHERLANDS

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Mariko Nakano-Okuno

Research Interests

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Articles (16)

Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry

EZH2 Protects Glioma Stem Cells from Radiation-Induced Cell Death in a MELK/FOXM1-Dependent Manner

338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Collaborators (16)

Krishna P Bhat

Meena Balasubramanian

Joy Cogan

Mahshid Azamian

Linlea Armstrong

Mario Saporta

Crystal Smith

Frederick K. Kozak

Manuela Morleo

Sharon Gorski

Nicholas Borja

Véronique Pingault

Mustafa Tekin

Patricia Dickson

Nita Limdi

Annelot Clementine Mathilda van Esbroeck

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