Maki Fukami
0000-0001-9971-4035
Publication & Citation Trends
Publications
0 total
Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site
Cited by 0
Semantic Scholar
Genomic profiles of pathogenic and moderate-penetrance germline variants associated with risk of early-onset lung adenocarcinoma.
Cited by 3
Semantic Scholar
OR03-05 Male-Dominant Expression of SHOX, a Key Regulator of Growth: Implications for Sex Differences in Height
Cited by 0
Semantic Scholar
Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures
Cited by 1
Semantic Scholar
Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1
Cited by 0
Semantic Scholar
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Cited by 1
Semantic Scholar
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing
Cited by 0
Semantic Scholar
Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region
Cited by 0
Semantic Scholar
Research Topics
Genetic Syndromes and Imprinting
(112)
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
(109)
Sexual Differentiation and Disorders
(107)
Prenatal Screening and Diagnostics
(62)
Epigenetics and DNA Methylation
(48)
Affiliations
Toho University
Children's Medical Center
Tokai University
Karolinska University Hospital
Children's National