For the full list of Pubmed-listed publications, click here

Selected open access publications:

Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic “functional” symptomatology including pain, fatigue and gastrointestinal dysmotility

Irritable Bowel Syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants

High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series

Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome

Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study

Cyclic vomiting syndrome in adults

Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression

Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.

Abstracts of additional selected publications (2000 to present):

Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2).

New evidence for the involvement of mitochondrial inheritance in schizophrenia: results from a cross-sectional study evaluating the risk of illness in relatives of schizophrenia patients.

Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders.

Maternal inheritance in recurrent early-onset depression.

Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A.

Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome.

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome.

Cyclic vomiting syndrome plus.

Combined cyclic vomiting and Kearns-Sayre syndromes.

Mitochondrial inheritance in depression, dysmotility and migraine?

A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.

Mitochondrial DNA analysis in clinical laboratory diagnostics

Maternal inheritance in cyclic vomiting syndrome.

Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.

Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease.

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half

Synchrony 2022: The Role of Neuroinflammation in Behavioral Exacerbations in Autism Spectrum Disorder

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction

Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable

A Personalized Approach to Evaluating and Treating Autism Spectrum Disorder