■ Published papers
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Original article
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1.
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Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N：
Blepharophimosis with Intellectual Disability (BIS) and Helsmoortel-Van Der Aa Syndrome (HVDAS) share episignature and phenotype.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
：in press
, 2024.5
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Case report
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1.
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Shimojima Yamamoto K†, Itagaki Y, Tanaka K, Okamoto N, Yamamoto T*：
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.
Human Genome Variation
11
：20
, 2024.5
DOI:10.1038/s41439-024-00278-9
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■ Books
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1.
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齋藤加代子：
脊髄性筋萎縮症 （18章 神経・筋疾患）.
最新ガイドライン準拠 小児科診断・治療指針 改訂第３版
796-799.
中山書店,
東京,
2024.4
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2.
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山本俊至：
染色体異常症.
今日の診断指針 第９版
in press.
医学書院,
東京,
2024.4
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3.
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Tamura T, Imaizumi T, Shimojima Yamamoto K, Yamamoto T：
Chapter 24: Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.
Cerebral Cortex Development-Methods and Protocols
293-304.
Springer Nature,
Hertfordshire, UK,
2024.4
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