Physician
Medical Genetics
Dr. Gunter H. Scharer, MD
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Gunter Scharer works in the field of Medical Genetics. He received awards:"Regional Top Doctor". Gunter Scharer is a published doctor. He published 19 publications, including: 'Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.'
Publications
- Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
- A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.
- BAG3 myofibrillar myopathy presenting with cardiomyopathy.
- In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail.
- Variant nonketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
- An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1.
- A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
- Genomics in clinical practice: lessons from the front lines.
- Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
- Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region.
- Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
- The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
- Neonatal liver failure: a genetic and metabolic perspective.
- Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
- Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
- Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
- Systemic inflammatory responses in children with acute otitis media due to Streptococcus pneumoniae and the impact of treatment with clarithromycin.
- Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
Schools
University of Heidelberg Institute of Pharmacology
Children39s Hospital of Orange County Program
Children39s Hospital Of Orange County
University Of Colorado School Of Medicine
Doctors Specialties
- Medical Genetics
- Pediatrics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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University of Colorado -
Ruprecht Karl University Faculty of Medicine
Hospital
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Children's Hospital of Wisconsin
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