Mamiko Yamada

30PUBLICATIONS
21CO-AUTHORS
Cancer geneticsDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Personality and individual differencesEpidemiological methods
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Publications (30)

|Aug 18, 2026
Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

|Jan 31, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.

Nao Ukita, Takuya Ogawa, Mamiko Yamada

|Apr 02, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Mamiko Yamada, Seiji Mizuno, Mie Inaba

|Feb 26, 2024
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

Megumi Nishino, Mai Tanaka, Kazuo Imagawa

|Jul 14, 2023
Café-au-lait Spots and Cleft Palate: Not a Chance Association.

Mamiko Yamada, Katsumi Tanito, Hisato Suzuki

|Mar 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.

Mamiko Yamada, Hisato Suzuki, Fuyuki Miya

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Frequent Collaborators

16 joint publications

Kenjiro Kosaki

15 joint publications

Hisato Suzuki

14 joint publications

Tomoko Uehara

12 joint publications

Toshiki Takenouchi