Heather C Mefford

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.3K citations · Full text

Engineering, Mendelian Disorder, Identifies Mll2 Mutations +9

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Heather C Mefford, Gregory M. Cooper, Troy Zerr et al. · Genome Research · 2009 · 131 citations · Full text

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2012 · 81 citations · Full text

Genetic Disorder, Genetics, Molecular Genetics +3

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

Rebecca Sparkes, Shashirekha Shetty, Judy Chernos et al. · Prenatal Diagnosis · 2009 · 81 citations

Reproductive Genetic Counseling, Genetic Disorder, Genetics +12

Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis

Heather C Mefford, Neil Shafer, Francesca Antonacci et al. · American Journal of Medical Genetics Part A · 2010 · 75 citations · Full text