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Publications by Naomichi Matsumoto
Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
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
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
American Journal of Human Genetics
Genetics
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
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
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
American Journal of Human Genetics
Genetics
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
American Journal of Human Genetics
Genetics
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
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