Margaret J. McMillin
Publications by Year
Research Areas
Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome(2010)1,346 cited
- → The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities(2015)685 cited
- → Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome(2012)225 cited
- → Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5(2014)214 cited
- → Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome(2011)194 cited
- → Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms(2012)118 cited
- → Spectrum of mutations that cause distal arthrogryposis types 1 and 2B(2013)68 cited
- → Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3(2015)65 cited
- → Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats(2013)64 cited
- → Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia(2012)62 cited