Heather C Mefford
St. Jude Children's Research Hospital(US)University of Miami(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Diverse Scientific and Economic Studies, Genetics and Neurodevelopmental Disorders, Biotechnology and Related Fields
Most-Cited Works
- → Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome(2010)1,346 cited
- → A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease(2009)131 cited
- → Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D(2012)81 cited
- → Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling(2009)81 cited
- → Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis(2010)75 cited
- → De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy(2016)64 cited
- → De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder(2018)51 cited
- → Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome(2022)38 cited
- → Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease(2009)37 cited
- → BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Families with Breast and Ovarian Cancer(1997)35 cited