Kumiko Yanagi

7PUBLICATIONS
21CO-AUTHORS
Aerospace materialsCardiology (incl. cardiovascular diseases)Infant and child healthNeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (7)

|Aug 11, 2026
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

|Dec 27, 2025
CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.

Natsuhiko Yamada, Atsushi Sakamoto, Rintaro Nagoshi

|Sep 12, 2025
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.

Taiga Aoki, Ayano Inui, Yoshiyasu Ogata

|Jun 20, 2024
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.

Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa

|May 30, 2024
Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Nobuhiko Okamoto, Sayaka Yoshida, Ayako Ogitani

|Jan 05, 2024
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.

Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi

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Frequent Collaborators

7 joint publications

Tadashi Kaname

3 joint publications

Nobuhiko Okamoto

1 joint publications

Yoshio Makita

1 joint publications

Satoru Takahashi