Faculty Information - YANAGISHITA Tomoe

（Last updated : 2025-12-29 09:51:21）

YANAGISHITA Tomoe
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Assistant Professor

■ Books

Translation　

N00NAN Syndrome「Thompson & Thompson
Genetics and Genomics in Medicine
Ninth Edition」 2025/03/24

■ Published papers

1.	Original article	Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay 2025/08/15
2.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
3.	Case report	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
4.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
5.	Original article	Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/01
6.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
7.	Case report	GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia 2022/04/25
8.	Case report	Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures 2021/11/29
9.	Original article	HECW2-related disorder in four Japanese patients 2021/10
10.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
11.	Original article	Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
12.	Original article	Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome 2020/12
13.	Original article	Analyses of breakpoint-junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing 2020/09
14.	Case report	Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
15.	Case report	Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan 2019/05
16.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
17.	Case report	Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/11
18.	Original article	Two cases of chidhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/05
Display 5 items
Display all(18)

■ Academic conference presentation

1.	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
2.	Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome （ポスター掲示，一般） 2025/12/20
3.	Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental dalay （ポスター掲示，一般） 2025/12/19
4.	Case of extra marker chromosome 15 missed at unlicensed NIPT facility （ポスター掲示，一般） 2025/06/06
5.	A boy with a novel variant in the ANO3 gene with developmental regression and ataxia （ポスター掲示，一般） 2025/06/05
6.	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
7.	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
8.	A 2023 survey of COVID-19 infections and vaccinations in children with Dravet syndrome and infantile epileptic spasms syndrome （ポスター掲示，一般） 2024/09/14
9.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C （ポスター掲示，一般） 2024/05/30
10.	Type 2 congenital generalized lipodystrophy by NOTCH2 variant （ポスター掲示，一般） 2023/10/14
11.	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
12.	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
13.	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
14.	Potocki-Lupski Syndrome Family Association Support （ポスター掲示，一般） 2023/05/26
15.	Two cases of microdeletion of 3p14 containing MAGl1 （ポスター掲示，一般） 2023/05/26
16.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation （口頭，一般） 2022/12/17
17.	Construction of CNV check site （ポスター掲示，一般） 2022/12/15
18.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss （ポスター掲示，一般） 2022/06/04
19.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated （ポスター掲示，一般） 2022/06/04
20.	2nd survey of nursery schooling and parental employment in Dravet syndrome and West syndrome （ポスター掲示，一般） 2022/06/03
21.	A Survey of Home Bathing in Infantile-onset Intractable Epilepsy. （口頭，一般） 2021/09/23
22.	A Survey of Nursery/School Swimming in Infantile-onset Intractable Epilepsy. （口頭，一般） 2021/09/23
23.	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
24.	Analysis of chromosome structural variations using long-read sequencing （ポスター掲示，一般） 2020/08/19
25.	Clinical features of discontinuation of antiepileptic drugs in patients with West syndrome （ポスター掲示，一般） 2020/08/19
26.	Mechanism of chromosomal structural abnormalities with increased copy number at both ends （ポスター掲示，一般） 2020/08/19
27.	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders （ポスター掲示，一般） 2019/07/26
28.	A new case of 19q13.32 deletion with psychomotor delay, characteristic face, cardiac malformation （ポスター掲示，一般） 2019/05/31
29.	A patient with epileptic encephalopathy associated with highly abnormal EEG and MED13L mutation （ポスター掲示，一般） 2018/05/31
30.	Two cases of narcolepsy with unique cataplexy mimicking epileptic seizures on the long-term video electroencephalography （ポスター掲示，一般） 2017/09/03
Display 5 items
Display all(30)