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Publications by Xiaofei Song

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics

English

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Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

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De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies

Molecular Medicine

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Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

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Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment

European Journal of Human Genetics

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RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

American Journal of Human Genetics

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Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

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A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features

English

Developmental Delay, Coarse Facial Features, and Epilepsy in a Patient With EXT2 Gene Variants

Clinical Case Reports

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Attention-Deficit/Hyperactivity Disorder (ADHD): A Review of Neuroscientific Evidence of Developmental Delay and Dysfunction

Journal of Systems and Integrative Neuroscience

English