Publications

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Author Title [ Year(Asc)]
Filters: Author is Below, Jennifer E and Keyword is Mutation  [Clear All Filters]
2018
Du, R. et al. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet 137, 689-703 (2018).
2014
Makaryan, V. et al. TCIRG1-associated congenital neutropenia. Hum Mutat 35, 824-7 (2014).
2013
McMillin, M. J. et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet 92, 150-6 (2013).
Below, J. E. et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).