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Shinji Saitoh

Nagoya City University(JP)

Publications by Year

Research Areas

Genetic Syndromes and Imprinting, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics

Most-Cited Works

→ Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15(1995)598 cited
→ Imprinting in Prader–Willi and Angelman syndromes(1998)452 cited
→ Imprinting-Mutation Mechanisms in Prader-Willi Syndrome(1999)276 cited
→ Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene(1996)257 cited
→ Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy(2009)236 cited
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.(1996)
→ Clinicopathological features of genetically confirmed Danon disease(2002)233 cited

→ A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region(1999)

231 cited

→ An imprinted, mammalian bicistronic transcript encodes two independent proteins(1999)186 cited

→ Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder(2018)183 cited