Physician

Medical Genetics

John Shoffner works in the field of Medical Genetics. He attended Emory University School of Medicine. Emory University School of Medicine is ranked 23/42 in Research/PrimaryCare. John Shoffner is a published physician. He published 13 publications, including: 'Oxidative phosphorylation diseases. Disorders of two genomes.'

Publications

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• Response to ''the appalling Poling saga''.
• Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.
• Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children.
• Rod photoreceptor function in children with mitochondrial disorders.
• Siblings with leukoencephalopathy.
• Developmental regression and mitochondrial dysfunction in a child with autism.
• Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
• Autosomal recessive inheritance of classic Bethlem myopathy.
• Fever plus mitochondrial disease could be risk factors for autistic regression.
• Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
• Cerebral folate deficiency.
• Oxidative phosphorylation diseases. Disorders of two genomes.

Schools

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• Emory Univ Sch Of Med

• Emory University

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Molecular Genetics
• Neurology
• Medical Genetics

Accepted Insurances

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Education

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• Emory University
• Emory University School of Medicine

Hospital

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• Children's Healthcare of Atlanta
• Northside Hospital

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