Katsuko Kuwajima
Boston Children's Hospital(US)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Glycosylation and Glycoproteins Research, Epigenetics and DNA Methylation, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation(1997)141 cited
- → Familial occurrence of ring chromosome 15(1992)81 cited
- → Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms(2004)50 cited
- → Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease(1998)43 cited
- → Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms(1998)41 cited
- → Diagnostic hand anomalies in Smith–Magenis syndrome: Four new patients with del (17)(p11.2p11.2)(1991)28 cited
- → Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1(1999)22 cited
- → Brachmann-de Lange syndrome and congenital heart disease(1998)22 cited
- → Lipoma of the Corpus callosum: Report of a Case and Review of the Literature(1979)15 cited
- → Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I(1999)14 cited