Assistant Professor, Pediatrics, Vanderbilt University School of Medicine
Medical Genetics
Dr. Tyler E. Reimschisel, MD
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Dr. Tyler E. Reimschisel is an expert in the field of Medical Genetics. He studied medicine at Rush Medical College. He over the years received 1 awards: "Regional Top Doctor". Tyler E. Reimschisel, MD is also published. He has 15 publications published. The lastest publication: "Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.'
Publications
- Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
- Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.
- A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
- You Too Can Teach Clinical Reasoning!
- Detection of clinically relevant exonic copy-number changes by array CGH.
- A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
- Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
- Phenotypic manifestations of copy number variation in chromosome 16p13.11.
- Impact of congenital talipes equinovarus etiology on treatment outcomes.
- Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
- High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
- Rapid comprehensive amino acid analysis by liquid chromatography/tandem mass spectrometry: comparison to cation exchange with post-column ninhydrin detection.
- American Academy of Neurology qualifications and guidelines for the physician expert witness.
Schools
Rush Med Coll Of Rush Univ
Johns Hopkins Hospital
Johns Hopkins University
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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Johns Hopkins University -
Rush Medical College
Hospital
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Vanderbilt Hospital and Clinics
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