Heather C. Mefford, MD, PhD, is an assistant professor of pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children
Education and Training
Univ of Wa Sch of Med, Seattle Wa 2003
Medical GeneticsAmerican Board of Medical GeneticsABMG
PediatricsAmerican Board of PediatricsABP
- Evidence for a BRCA1 founder mutation in families of West African ancestry.
- BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer.
- Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes.
- The complex structure and dynamic evolution of human subtelomeres.
- Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry.
- Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
- Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling.
- Duplication hotspots, rare genomic disorders, and common disease.
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
- Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.
- Genetically complex epilepsies, copy number variants and syndrome constellations.
- Genetic contribution to common epilepsies.
- Univ Of Wa Sch Of Med, Pediatrics
- University Of Wa School Of Med
- Pediatrics, Seattle Children's Hospital, Seattle
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