Heather C Mefford

Summary

Publications

  1. pmc Genetically complex epilepsies, copy number variants and syndrome constellations
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA
    Genome Med 2:71. 2010
  2. pmc Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
    Heather C Mefford
    Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 152:2203-10. 2010
  3. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
  4. doi request reprint Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
    Saul A Mullen
    From the Florey Institute of Neuroscience and Mental Health S A M, I E S, Epilepsy Research Centre, Department of Medicine, Austin and Northern Health S B, S F B, I E S, and Department of Paediatrics, Royal Children s Hospital I E S, University of Melbourne, Australia Department of Pediatrics G L C, H C M, Division of Genetic Medicine, University of Washington, Seattle and Epilepsy Research Program, School of Pharmacy and Medical Sciences M A B, L M D, and Sansom Institute for Health Research M A B, L M D, University of South Australia, Adelaide
    Neurology 81:1507-14. 2013
  5. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
  6. pmc GRIN2A mutations cause epilepsy-aphasia spectrum disorders
    Gemma L Carvill
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA
    Nat Genet 45:1073-6. 2013
  7. pmc Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    Gemma L Carvill
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
    Nat Genet 45:825-30. 2013
  8. pmc Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
    Hiltrud Muhle
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 52:e194-8. 2011
  9. pmc Rare copy number variants are an important cause of epileptic encephalopathies
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 70:974-85. 2011
  10. pmc Duplication hotspots, rare genomic disorders, and common disease
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, WA 98195, United States
    Curr Opin Genet Dev 19:196-204. 2009

Detail Information

Publications26

  1. pmc Genetically complex epilepsies, copy number variants and syndrome constellations
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA
    Genome Med 2:71. 2010
    ..Here, we discuss what is currently known about the contribution of copy number variants to epilepsy, and how that knowledge is redefining classification of clinical and genetic syndromes...
  2. pmc Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
    Heather C Mefford
    Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet A 152:2203-10. 2010
    ..The genes within and disrupted by CNVs in this cohort are potential novel candidate genes for craniosynostosis...
  3. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...
  4. doi request reprint Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
    Saul A Mullen
    From the Florey Institute of Neuroscience and Mental Health S A M, I E S, Epilepsy Research Centre, Department of Medicine, Austin and Northern Health S B, S F B, I E S, and Department of Paediatrics, Royal Children s Hospital I E S, University of Melbourne, Australia Department of Pediatrics G L C, H C M, Division of Genetic Medicine, University of Washington, Seattle and Epilepsy Research Program, School of Pharmacy and Medical Sciences M A B, L M D, and Sansom Institute for Health Research M A B, L M D, University of South Australia, Adelaide
    Neurology 81:1507-14. 2013
    ..We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study...
  5. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  6. pmc GRIN2A mutations cause epilepsy-aphasia spectrum disorders
    Gemma L Carvill
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA
    Nat Genet 45:1073-6. 2013
    ..GRIN2A mutations are restricted to this group of cases, which has important ramifications for diagnostic testing and treatment and provides new insights into the pathogenesis of this debilitating group of conditions. ..
  7. pmc Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    Gemma L Carvill
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
    Nat Genet 45:825-30. 2013
    ..Implementation of this rapid and efficient method will change diagnosis and understanding of the molecular etiologies of these disorders. ..
  8. pmc Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
    Hiltrud Muhle
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 52:e194-8. 2011
    ..We suggest that absence epilepsy accompanied by intellectual disability may represent a common phenotype of the 15q13.3 microdeletion in pediatric patients with epilepsy...
  9. pmc Rare copy number variants are an important cause of epileptic encephalopathies
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 70:974-85. 2011
    ..A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed...
  10. pmc Duplication hotspots, rare genomic disorders, and common disease
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, WA 98195, United States
    Curr Opin Genet Dev 19:196-204. 2009
    ..The genomic hotspot model may provide a powerful approach for understanding the role of rare variants in common disease...
  11. pmc Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
    PLoS Genet 6:e1000962. 2010
    ..2, 15q13.3, or 16p13.11, genomic hotspots previously associated with ID, autism, or schizophrenia. In summary, our findings suggest common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy...
  12. doi request reprint New developments in genetic diagnosis: implications for the craniofacial surgeon
    Anne V Hing
    University of Washington, Seattle Children s Hospital, Seattle, Washington 98105, USA
    J Craniofac Surg 23:212-6. 2012
    ..Future testing may include exome or whole-genome sequencing. In this article, we will discuss indications for genetic consultation and review current and future gene testing options for craniofacial conditions...
  13. pmc Further clinical and molecular delineation of the 15q24 microdeletion syndrome
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, DC 98195, USA
    J Med Genet 49:110-8. 2012
    ..To date, 20 patients have been reported; 18 have had detailed breakpoint analysis...
  14. doi request reprint Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
    Ruxandra Bachmann-Gagescu
    Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Genet Med 12:641-7. 2010
    ..The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity...
  15. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
    ..Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome...
  16. doi request reprint Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era
    Heather C Mefford
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA
    Genet Med 11:836-42. 2009
    ....
  17. doi request reprint Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
    Heather C Mefford
    Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children s Hospital, Seattle, Washington 98105, USA
    Am J Med Genet A 158:3190-5. 2012
    ..This patient's history emphasizes the utility of array CGH in the evaluation of children with epilepsy of unknown etiology...
  18. pmc Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy
    Megan L Landsverk
    Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Hum Mol Genet 18:1200-8. 2009
    ..This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA...
  19. pmc Mutations in ECEL1 cause distal arthrogryposis type 5D
    Margaret J McMillin
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 92:150-6. 2013
    ..Our results distinguish a second developmental pathway that causes congenital-contracture syndromes...
  20. doi request reprint Microdeletion syndromes
    Gemma L Carvill
    Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    Curr Opin Genet Dev 23:232-9. 2013
    ..The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes. ..
  21. doi request reprint Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
    Alexander G Bassuk
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    Am J Med Genet A 161:1722-5. 2013
    ..2 deletion syndrome. We investigate the potential role of ZNF44, a gene within the deleted region, in a cohort of patients with generalized epilepsy...
  22. pmc Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    Brian J O'Roak
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Science 338:1619-22. 2012
    ..Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology...
  23. pmc A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
    Heather C Mefford
    Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA
    Genome Res 19:1579-85. 2009
    ..More generally, this approach offers a previously unavailable balance between customization, cost, and throughput for analysis of CNVs and should prove valuable for targeted CNV detection in both research and diagnostic settings...
  24. pmc Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry
    Melanie P Gygi
    Department of Molecular Biotechnology, University of Washington, Seattle, WA 98195, USA
    Nucleic Acids Res 30:2790-9. 2002
    ..By separating chromosome 9 from chromosomes 10-12 on the basis of polyamide fluorescence, we determine and differentiate the haplotypes of the highly similar copies of this gene on chromosomes 9 and 11...
  25. pmc Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
    Heather C Mefford
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 81:1057-69. 2007
    ..We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes...
  26. ncbi request reprint The complex structure and dynamic evolution of human subtelomeres
    Heather C Mefford
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Nat Rev Genet 3:91-102. 2002
    ..However, the propensity for subtelomeres to interchange is a double-edged sword, as extensive subtelomeric homology can mediate deleterious rearrangements of the ends of chromosomes to cause human disease...