Hisato Suzuki

35PUBLICATIONS
38CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Immunogenetics (incl. genetic immunology)GenomicsEpigenetics (incl. genome methylation and epigenomics)
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Publications (35)

|Sep 08, 2025
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond.

Fuyuki Miya, Daisuke Nakato, Hisato Suzuki

|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

|Mar 29, 2024
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.

Shuya Kaneko, Fumiaki Sakura, Kay Tanita

|Jun 23, 2023
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.

Sakura Kawahara, Kazuo Imagawa, 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

|Jul 21, 2022
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.

Hisato Suzuki, Simo Li, Tomoharu Tokutomi

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Frequent Collaborators

16 joint publications

Toshiki Takenouchi

15 joint publications

Mamiko Yamada

13 joint publications

Tomoko Uehara

13 joint publications

Kenjiro Kosaki