Maki Fukami

82PUBLICATIONS
103CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Optical technologyGene mappingCancer genetics
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Publications (82)

|Oct 24, 2026
Targeted long-read sequencing reveals allele-specific methylation profiles at the GNAS locus in pseudohypoparathyroidism with various etiologies.

|May 29, 2026
GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.

|Apr 06, 2026
Clinical features of syndromic microphthalmia in two novel RARB variants.

Yoshito Koyanagi, Hazuki Morikawa-Anzai, Tomoyo Yoshida

|Jan 26, 2026
Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.

Chisato Narita, Hidekazu Utsunomiya, Junpei Hamada

|Jan 15, 2026
Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia.

Michihiko Aramaki, Hibiki Doi, Yuko Kato-Fukui

|Nov 19, 2025
Chromosomal and hormonal factors involved in human sexual dimorphism.

Maki Fukami, Kohji Okamura, Shoko Sasaki

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Frequent Collaborators

25 joint publications

Tsutomu Ogata

13 joint publications

Hirotomo Saitsu

9 joint publications

Masayo Kagami

6 joint publications

Atsushi Hattori