Heather C Mefford
Heather C Mefford
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...
Nature genetics 42 (9), 790-793, 2010
De novo mutations in epileptic encephalopathies
Nature 501 (7466), 217-221, 2013
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
Population analysis of large copy number variants and hotspots of human genetic disease
A Itsara, GM Cooper, C Baker, S Girirajan, J Li, D Absher, RM Krauss, ...
The American Journal of Human Genetics 84 (2), 148-161, 2009
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ...
Nature genetics 40 (3), 322-328, 2008
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
BS Abrahams, DE Arking, DB Campbell, HC Mefford, EM Morrow, ...
Molecular autism 4 (1), 1-3, 2013
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
HC Mefford, H Muhle, P Ostertag, S von Spiczak, K Buysse, C Baker, ...
PLoS genetics 6 (5), e1000962, 2010
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ...
Brain 133 (1), 23-32, 2010
Genomics, intellectual disability, and autism
HC Mefford, ML Batshaw, EP Hoffman
New England Journal of Medicine 366 (8), 733-743, 2012
The complex structure and dynamic evolution of human subtelomeres
HC Mefford, BJ Trask
Nature Reviews Genetics 3 (2), 91-102, 2002
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ...
Journal of medical genetics 46 (4), 223-232, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
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