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Publications by Yoshinori Tsurusaki

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly

American Journal of Human Genetics

English

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

American Journal of Human Genetics

English

The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders

Journal of Human Genetics

English

Novel CUL7 Biallelic Mutations Alter the Skeletal Phenotype of 3M Syndrome

Human Genome Variation

Molecular Biology

English