HeatherCMeffordMD

PubMed

• Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy.
  Richard S Finkel, Samuel H Hughes, JulieAnn Parker, Matthew Civitello, Alfonso Lavado
  The New England Journal of Medicine. 2025-02-19
• SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
  Christy W LaFlamme, Karim Karimi, Cassandra Rastin, Edith P Almanza Fuerte, Talia Allan
  Epilepsia. 2025-02-11
• A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.
  Nitish Chourasia, Rohan Vaidya, Soham Sengupta, Heather C Mefford, James Wheless
  Pediatric Neurology. 2024-12-01

Journal Articles

• Reanalysis and Optimisation of Bioinformatic Pipelines Is Critical for Mutation Detection  
  Heather Mefford, MD, Human Mutation
• The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation Criteria  
  Ghayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
• A De Novo in‐Frame Deletion of CASK Gene Causes Early Onset Infantile Spasms and Supratentorial Cerebral Malformation in a Female Patient  
  Kimberly Foss, Xiuhua Bozarth, Heather C Mefford, American Journal of Medical Genetics Part A
• NBEA: Developmental Disease Gene with Early Generalized Epilepsy Phenotypes  
  Mary K Kukolich, Danielle McBrian, Heather C Mefford, Elaine Pereira, Tristan T Sands, James Riviello, Annals of Neurology
• TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic Variants  
  Jennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature
• Return of Individual Results in Epilepsy Genomic Research: A View from the Field  
  Heather C Mefford, Daniel H Lowenstein, Annapurna Poduri, Epilepsia
• Severe Neurocognitive and Growth Disorders Due to Variation in THOC2, an Essential Component of Nuclear mRNA Export Machinery  
  Gretchen Parsons, Gail E Herman, Heather Mefford, Paul Mark, Human Mutation
• Defining the Phenotypic Spectrum of SLC6A1 Mutations  
  Lance H Rodan, Heather C Mefford, Lynne M Bird, Sara Chadwick Reichert, Mark Nespeca, Orrin Devinsky, Sarah Hopkins, Laura Pisani, John J Millichap, Joseph G Gleeson, Epilepsia
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