Mariko Nakano-Okuno

The University of Alabama

United States

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Research Interests

Neuropsychology

20%

Clinical Psychology

20%

Medical Science

100%

Neurodevelopmental Disorders

60%

Rare Disease

50%

Exome Sequencing

30%

Huntington's Disease

20%

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Articles14

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

Article Link

Year:

2023

Collaborators13

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

Joy Cogan

Research Professor

Vanderbilt University School of Medicine

UNITED STATES

Mahshid Azamian

Baylor College of Medicine

UNITED STATES

Linlea Armstrong

Clinical Associate Professor

The University of British Columbia

CANADA

Mario Saporta

ASSOCIATE PROFESSOR

University of Miami School of Medicine

UNITED STATES

Crystal Smith

Assistant Research Professor

Washington State University - Spokane

UNITED STATES

Frederick K. Kozak

Clinical Professor

The University of British Columbia

CANADA

Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

Sharon Gorski

Affiliate Professor

The University of British Columbia

CANADA

Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

UNITED STATES

Mustafa Tekin

University of Miami

UNITED STATES

Patricia Dickson

Professor

Washington University in St. Louis

UNITED STATES

Annelot Clementine Mathilda van Esbroeck

Assistant Professor

Erasmus MC

NETHERLANDS

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