Associate Professor of Pediatrics; University of Utah School of Medicine
Medical Genetics
Dr. Alan F. Rope, MD
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Dr. Alan F. Rope practices Medical Genetics. He went to University of Toledo College of Medicine. Alan F. Rope is a published physician. He published 20 publications, including: 'Application of DNA amplification fingerprinting (DAF) to mixed culture bioreactors.'
Publications
- Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
- Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
- Neural tube defects and atypical deletion on 22q11.2.
- Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
- Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.
- A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
- Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.
- Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
- A new genomic mechanism leading to cri-du-chat syndrome.
- Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
- Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.
- Dilated ascending aorta in a child with ring chromosome 21 syndrome.
- Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).
- Upper airway malformation associated with partial trisomy 11q.
- Application of DNA amplification fingerprinting (DAF) to mixed culture bioreactors.
Schools
Med Coll Of Ohio
Cincinnati Children39s Hospital Medical Center
Cincinnati Chldns Hosp
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Cincinnati Children's Hospital Medical Center -
University of Toledo College of Medicine
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