Assistant Professor, Pediatrics, University of Washington School of Medicine
Medical Genetics
Dr. Heather C. Mefford, MD
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Heather Mefford is an expert in the field of Medical Genetics. She went to medical school at University of Washington School of Medicine. She has 1 awards "Regional Top Doctor". Heather C. Mefford, MD is a published doctor. She has 22 publications published. The most current publication "Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy."
Publications
- A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
- Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.
- Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
- Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
- Thinking about cognition and epilepsy.
- Epilepsy: Beyond the single nucleotide variant in epilepsy genetics.
- Refining analyses of copy number variation identifies specific genes associated with developmental delay.
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development.
- The Genetics of Microdeletion and Microduplication Syndromes: An Update.
- GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome.
- Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
- Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects.
- De novo mutations in epileptic encephalopathies.
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
- Microdeletion syndromes.
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
- Mutations in ECEL1 cause distal arthrogryposis type 5D.
- Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders.
- Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Schools
University of Washington
University Of Wa School Of Med
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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University of Washington -
University of Washington School of Medicine
Hospital
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Seattle Children's Hospital
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