Chief, Genetic Services, GHP Clinical Associate Professor, University of Washington

Medical Genetics

Kathleen Leppig works in the field of Medical Genetics. She went to medical school at Case Western Reserve University School of Medicine. She received awards:"Regional Top Doctor", "Meaningful Use Stage 1 Certification" and "Top MD". Kathleen Leppig is also published. She has 43 publications published. The lastest publication: "Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.' She is registered with Medicare and accepts Medicare payments.

Publications

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• Improving performance of multigene panels for genomic analysis of cancer predisposition.
• Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
• Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems.
• Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
• Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
• Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.
• EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
• Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.
• Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies.
• Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
• Phenotype and X inactivation in 45,X/46,X,r(X) cases.
• Sacral hemangioblastoma in a patient with von Hippel-Lindau disease. Case report and review of the literature.
• Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
• Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
• A copy number variation morbidity map of developmental delay.
• Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
• Motivating factors for physician ordering of factor V Leiden genetic tests.
• Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
• Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
• Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.
• Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
• Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.
• 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.
• Coexpression of gamma and beta globin mRNA in cells containing a single human beta globin locus: results from studies using single-cell reverse transcription polymeras...
• 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...
• Phenotypic correlations of ocular coloboma without known cause.
• Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.
• DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
• The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
• Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
• Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype.
• Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.
• Brachydactyly type A1 with abnormal menisci and scoliosis in three generations.
• Familial cryptic (20;21) translocation identified by in situ hybridization technologies.
• The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
• Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.

Schools

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• Case Western Reserve University School of Medicine

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Regional Top Doctor
• Meaningful Use Stage 1 Certification
• Top MD

Education

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• Cincinnati Children's Hospital Medical Center
• Case Western Reserve University School of Medicine

Hospital

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• Virginia Mason Medical Center

Helpful Reviews

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Medicare Facts

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National Provider Identifier [NPI]	1427007962
Last Name Of The Provider	LEPPIG
First Name Of The Provider	KATHLEEN
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