Genomes and Genes
Heather C Mefford
Affiliation: University of Washington
- The complex structure and dynamic evolution of human subtelomeresHeather 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...
- New developments in genetic diagnosis: implications for the craniofacial surgeonAnne 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...
- Rare copy number variants are an important cause of epileptic encephalopathiesHeather 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...
- Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather 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...
- Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather 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...
- Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" eraHeather C Mefford
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA
Genet Med 11:836-42. 2009....
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark 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...
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh 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...
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseHeather 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...
- Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud 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...
- Duplication hotspots, rare genomic disorders, and common diseaseHeather 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...
- Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsyHeather 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...
- Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan 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...
- Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra 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...
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah 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...
- Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosisHeather 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...
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp
Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific St, Seattle, Washington 98195, USA
Nat Genet 40:322-8. 2008..The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes...
- Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret 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...
- Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian 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...
- Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsyHeather 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...
- A Genomic Approach to EpilepsyHeather C Mefford; Fiscal Year: 2010..Greater understanding of the genes involved in normal development and function of the brain will facilitate improved therapies for this common disorder and benefit society as a whole. ..