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Publications by Hirotomo Saitsu
Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy
American Journal of Human Genetics
Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly
American Journal of Human Genetics
Genetics
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
American Journal of Human Genetics
Genetics
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders
Journal of Human Genetics
Genetics
Corrigendum: Ultra–sensitive Droplet Digital PCR for Detecting a Low–prevalence Somatic GNAQ Mutation in Sturge–Weber Syndrome
Scientific Reports
Multidisciplinary
A novelWDR45mutation in a Patient With Static Encephalopathy of Childhood With Neurodegeneration in Adulthood (SENDA)
American Journal of Medical Genetics, Part A
Genetics
Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2
Epilepsia Open
Neurology
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