Faculty Information - SHIMOMURA Rina

（Last updated : 2026-06-04 13:53:02）

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.	Harel-Yoon syndrome caused by compound heterozygous variants in ATAD3A （Poster notice，General） 2026/06/04
2.	ZMYM2 de novo variant identfied in a patient with neurodevelopmental disorder （Poster notice，General） 2026/06/04
3.	A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom （Poster notice，General） 2025/12/20
4.	De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay （Poster notice，General） 2025/12/20
5.	Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome （Poster notice，General） 2025/12/20
6.	Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental dalay （Poster notice，General） 2025/12/19
7.	Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts （Speech，General） 2025/06/05
8.	Mechanism of megacephalic leukoencephalopathy with subcortical cysts(MLC) using genome editing technology （Poster notice，General） 2025/06/05
9.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （Poster notice，General） 2024/10/12
10.	A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder （Poster notice，General） 2024/10/10
11.	Glass syndrome derived from chromosomal breakage downstream region of SATB2 （Poster notice，General） 2024/10/10
12.	Structural analysis for DUP-TRP/INV-DUP in a patient with PLP1 triplication （Poster notice，General） 2024/05/30
13.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （Poster notice，General） 2023/10/14
14.	Type 2 congenital generalized lipodystrophy by NOTCH2 variant （Poster notice，General） 2023/10/14
15.	A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan syndrome （Poster notice，General） 2023/10/13
16.	A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy （Poster notice，General） 2023/10/13
17.	A nationwide survey of nursery schooling and parental employment in children with epilepsy and febrile seizures （Poster notice，General） 2023/05/26
18.	A survey of COVID-19 infections and vaccinations in children with Dravet syndrome and West syndrome （Poster notice，General） 2023/05/26
19.	Potocki-Lupski Syndrome Family Association Support （Poster notice，General） 2023/05/26
20.	Two cases of microdeletion of 3p14 containing MAGl1 （Poster notice，General） 2023/05/26
21.	Construction of CNV check site （Poster notice，General） 2022/12/15
22.	A Survey of Home Bathing in Infantile-onset Intractable Epilepsy. （Speech，General） 2021/09/23
23.	A Survey of Nursery/School Swimming in Infantile-onset Intractable Epilepsy. （Speech，General） 2021/09/23
24.	A Survey of Home Bathing and Nursery/School Swimming in Children with Infantile-onset Intractable Epilepsy in Japan （Poster notice，General） 2021/06/10
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