Hiroshi Suzumura
Dokkyo Medical University(JP)
Publications by Year
Research Areas
Neonatal Respiratory Health Research, Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Neonatal and fetal brain pathology
Most-Cited Works
- → Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations(2015)99 cited
- → Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations(2015)72 cited
- → Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients(2019)67 cited
- → Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy(2016)64 cited
- → Hypophosphatemia in small for gestational age extremely low birth weight infants receiving parenteral nutrition in the first week after birth(2012)60 cited
- → Molecular genetic analysis of 30 families with Joubert syndrome(2016)56 cited
- → Time-dependent morphologic characteristics in angiographic chronic total coronary occlusions(2001)55 cited
- → Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients(2020)45 cited
- → The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations(2014)45 cited
- → An analysis of epilepsy with chromosomal abnormalities(2005)45 cited