Faculty Information - SHIMOMURA Rina

（Last updated : 2026-03-13 11:31:30）

SHIMOMURA Rina
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Assistant Professor

■ Books

1.	Translation	Duchenne Muscular Dystrophy「Thompson & Thompson Genetics and Genomics in Medicine Ninth Edition」 2025/03/24
2.	Translation	Tay-Sachs Disease「Thompson & Thompson Genetics and Genomics in Medicine Ninth Edition」 2025/03/24

■ Published papers

1.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
2.	Original article	Unique DUP-TRP/INV-DUP structure detected by long-read sequencing 2025/03/12
3.	Original article	Glass syndrome derived from chromosomal breakage downstream region of SATB2 2024/10/01
4.	Case report	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
5.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
6.	Original article	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2022
7.	Case report	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2021/09/07
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■ Academic conference presentation

1.	A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom （ポスター掲示，一般） 2025/12/20
2.	De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay （ポスター掲示，一般） 2025/12/20
3.	Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome （ポスター掲示，一般） 2025/12/20
4.	Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental dalay （ポスター掲示，一般） 2025/12/19
5.	Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts （口頭，一般） 2025/06/05
6.	Mechanism of megacephalic leukoencephalopathy with subcortical cysts(MLC) using genome editing technology （ポスター掲示，一般） 2025/06/05
7.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （ポスター掲示，一般） 2024/10/12
8.	A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder （ポスター掲示，一般） 2024/10/10
9.	Glass syndrome derived from chromosomal breakage downstream region of SATB2 （ポスター掲示，一般） 2024/10/10
10.	Structural analysis for DUP-TRP/INV-DUP in a patient with PLP1 triplication （ポスター掲示，一般） 2024/05/30
11.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （ポスター掲示，一般） 2023/10/14
12.	Type 2 congenital generalized lipodystrophy by NOTCH2 variant （ポスター掲示，一般） 2023/10/14
13.	A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan syndrome （ポスター掲示，一般） 2023/10/13
14.	A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy （ポスター掲示，一般） 2023/10/13
15.	A nationwide survey of nursery schooling and parental employment in children with epilepsy and febrile seizures （ポスター掲示，一般） 2023/05/26
16.	A survey of COVID-19 infections and vaccinations in children with Dravet syndrome and West syndrome （ポスター掲示，一般） 2023/05/26
17.	Potocki-Lupski Syndrome Family Association Support （ポスター掲示，一般） 2023/05/26
18.	Two cases of microdeletion of 3p14 containing MAGl1 （ポスター掲示，一般） 2023/05/26
19.	Construction of CNV check site （ポスター掲示，一般） 2022/12/15
20.	A Survey of Home Bathing in Infantile-onset Intractable Epilepsy. （口頭，一般） 2021/09/23
21.	A Survey of Nursery/School Swimming in Infantile-onset Intractable Epilepsy. （口頭，一般） 2021/09/23
22.	A Survey of Home Bathing and Nursery/School Swimming in Children with Infantile-onset Intractable Epilepsy in Japan （ポスター掲示，一般） 2021/06/10
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