HeatherCMeffordMD

PubMed

• 8 citations
  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of.
  Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand
  Neurology. 2023-02-07
• 4 citations
  Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
  Alina I Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J Burman
  Genetics in Medicine. 2023-02-01
• 4 citations
  De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
  Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev
  Genetics in Medicine. 2022-12-01

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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