Dr. Kathleen A Leppig MD
Geneticist | Clinical Genetics (M.D.)
125 16th Ave E Seattle WA, 98112About
Dr. Kathleen Leppig practices Genetic Medicine in Seattle, WA. As a geneticist, Dr. Leppig performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Leppig carries out studies, tests, and counsels patients with genetic diseases.
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Familial cryptic (20;21) translocation identified by in situ hybridization technologies.
- Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
- Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
- Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
- A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.
- Identifying opportunities for collaboration and growth of genetic counseling services in the Asia Region.
- Minor malformations: significant or insignificant.
- Predictive value of minor anomalies: II. Use in cohort studies to identify teratogens.
- Predictive value of minor anomalies. I. Association with major malformations.
- Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
- Cytotoxicity mediated by conditional expression of a carboxyl-terminal derivative of the beta-amyloid precursor protein.
- Cloning of the human homolog of the CDC34 cell cycle gene by complementation in yeast.
- Use of yeast artificial chromosomes (YACs) for studying control of gene expression: correct regulation of the genes of a human beta-globin locus YAC following transfer to mouse erythroleukemia cell lines.
- Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
- Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.
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