Saitsu, Hirotomo

Top Publications

Top Publications Authored or Co-Authored by "Saitsu, Hirotomo"

• SMOC1 is essential for ocular and limb development in humans and mice

  American Journal of Human Genetics, Volume 88, No. 1, Year 2011, Citations 104
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 76
• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66
• Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

  American Journal of Medical Genetics, Part A, Volume 161, No. 7, Year 2013, Citations 20
• A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

  American Journal of Medical Genetics, Part A, Volume 149, No. 3, Year 2009, Citations 14