Publications
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Author Title [ Year] Filters: Keyword is Mutation and Author is McMillin, Margaret J [Clear All Filters]
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96, 841-9 (2015).
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94, 734-44 (2014).
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).