HeatherCMeffordMD

PubMed

• 1066 citations
  De novo mutations in epileptic encephalopathies
  Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis J. Dlugos
  Nature. 2013-09-12
• 948 citations
  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
  Sarah B. Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin
  Nature Genetics. 2010-09-01
• 947 citations
  Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
  Brian J. O'Roak, Laura Vives, Wenqing Fu, Jarrett D. Egertson, Ian B. Stanaway
  Science. 2012-12-21

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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