Faculty Information - Tomoharu Tokutomi

Current specialization

Journal Articles

Presentations

Professional Organizations

Awards

（Last updated : 2025-07-18 09:50:40）

Tomoharu Tokutomi
Department Kawasaki Medical School Kawasaki Medical School, Department of Pediatrics,

Position Professor with Special Assignment

■ Current specialization

Molecular and Genetic Epidemiology, Pediatric Genetics, Genome Medicine, Personalized Medicine (Key Word：Clinical genetics,Pedigree,Family health history,Dysmorphology,Genetic counseling,genomic literacy,Risk communication,Precision medicine)

■ Journal Articles

1.	2025/04/03	Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank.
2.	2025/01/30	Reference-Based Standardization Approach Stabilizing Small Batch Risk Prediction via Polygenic Score
3.	2024/03/21	The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia
4.	2023/12/28	Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases
5.	2023/04/18	Recontact: a survey of current practices and BRCA1/2 testing in Japan
6.	2023/03/28	Japanese Translation and Validation of Genomic Knowledge Measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK)
7.	2022/12/16	De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
8.	2022/05	Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
9.	2022/01	The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
10.	2021/12	dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project
11.	2021/06	Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
12.	2021/04	GNAO1 mutation-related severe involuntary movements treated with gabapentin.
13.	2021/01/05	Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study.
14.	2018/11	A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop.
15.	2018/01	f-tree: Questionnaire-based pedigree chart creation software in compliance with recommendations for standardized human pedigree nomenclature.
16.	2017/12	Population-based biobank participants' preferences for receiving genetic test results.
17.	2017/07/14	f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.
18.	2017/01	Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
19.	2012/01/20	Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
20.	2009/11	A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.
21.	2007/06/15	dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.
22.	2006/09/15	A non-obese boy with Prader-Willi syndrome shows cardiopulmonary impairment due to severe kyphoscoliosis.
23.	2006/09	Quest for the diagnosis - Case 2: Fever, rash and pulmonary involvement - Diagnosis: Bronchogenic cyst occluding the trachea
24.	2005/06	Standard-dose and short-term corticosteroid therapy in immunoglobulin-resistant Kawasaki disease.
25.	2003/03	Circulating endothelial cells in Kawasaki disease
26.	2002/09	Clinical survey of Kawasaki disease for the 10-year period (1991~2000) in the National Defense Medical College Hospital.
27.	2002/05	Intravenous immunoglobulin therapy induces neutrophil apoptosis in Kawasaki disease.
28.	2002	Characteristic profile of intestinal microflora in Kawasaki disease
29.	2001/11	Delayed apoptosis of circulating neutrophils in Kawasaki disease
30.	2001/08	Elevated serum levels of matrix metalloproteinase-9 (MMP-9) in Kawasaki disease
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■ Presentations

2024/11/08

Utilizing ABCC11 genotyping in high school genetics education: A hands-on approach （Poster notice，General）

■ Professional Organizations

1.		THE JAPANESE SOCIETY FOR GENETIC COUNSELING
2.		Japanese Society for Gene Diagnosis and Therapy
3.		JAPAN PEDIATRIC SOCIETY
4.		THE JAPAN SOCIETY OF HUMAN GENETICS
5.		THE JAPAN SOCIETY OF PEDIATRIC GENETICS
6.		THE JAPANESE TERATOLOGY SOCIETY
7.		THE JAPANESE SOCIETY OF HEREDITARY TUMORS
8.		European Society of Human Genetics (ESHG)
9.		JAPANESE ASSOCIATION OF DISASTER MEDICINE
10.		JAPANESE SOCIETY FOR INFECTION PREVENTION AND CONTROL
11.		JAPAN MEDICAL ASSOCIATION
12.		THE JAPANESE SOCIETY OF MITOCHONDRIAL RESEARCH AND MEDICINE
13.		American Society of Human Genetics (ASHG)
14.		American College of Medical Genetics and Genomics (ACMG)
15.	2019/04～	Global Genomic Medicine Consortium (G2MC)
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■ Awards

1.	2010/10	World Muscle Society WMS 15, Elsevier WMS Membership Award (Treatment of hyposialylation in mouse model of DMRV/hIBM with novel synthetic sugar compounds)
2.	2010/11	National Defense Medical College NDMC Meeting Award (Treatment of hyposialylation in mouse model of DMRV/hIBM with novel synthetic sugar compounds)