Mari Mori

Assistant Professor

Ohio State University

United States

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Articles (15)

Year:

2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2020

Collaborators (10)

Nuno Maia

Invited associated professor

Instituto Politécnico de Leiria

PORTUGAL

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Karolina Łagowska

University of Life Sciences in Poznań

POLAND

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Kristen Arredondo

Assistant Professor of Neurology

University of Texas at Austin

UNITED STATES

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Catherine E. Cottrell

UNITED STATES

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Arjan P. M. de Brouwer

NETHERLANDS

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Emily Hansen-Kiss

Genetic Counselor/Assistant Professor

The University of Texas Health Science Center at Houston School of Dentistry

UNITED STATES

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Toshiya Toda

Professor

Mukogawa Women's University

JAPAN

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Kirkland Wilson

Case Western Reserve University

UNITED STATES

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Bimal Chaudhari

Assistant Professor

Nationwide Children's Hospital

UNITED STATES

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Julita Regula

Full Professor

University of Life Sciences in Poznań

POLAND

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Mari Mori

Research Interests

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Articles (15)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Perinatal-lethal nonimmune fetal hydrops attributed toMECOM-associated bone marrow failure

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutieres syndrome

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

A Meta-Analysis of Randomized Controlled Trials of the Effects of Soy Intake on Inflammatory Markers in Postmenopausal Women

Pseudoxanthoma Elasticum

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

Genotype-phenotype correlation of glycogen storage disease type IV

MOLYBDENUM COFACTOR DEFICIENCY (MOCD): THE ROLE OF SEQUENCING AND BIOCHEMICAL TESTING

Somatic variation as an incidental finding in the pediatric next-generation sequencing era

Focused Revision: Policy statement on folic acid and neural tube defects.

Correction to: Focused Revision: Policy statement on folic acid and neural tube defects (Genetics in Medicine, (2021), 23, 12, (2464-2466), 10.1038/s41436-021-01226-6)

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Collaborators (10)

Nuno Maia

Karolina Łagowska

Kristen Arredondo

Catherine E. Cottrell

Arjan P. M. de Brouwer

Emily Hansen-Kiss

Toshiya Toda

Kirkland Wilson

Bimal Chaudhari

Julita Regula

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