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Publications by Takeyoshi Shimoji
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
Related publications
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
American Journal of Human Genetics
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
American Journal of Human Genetics
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
American Journal of Human Genetics
Genetics
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
American Journal of Human Genetics
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De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
