GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li, Marni J. Falk, Chun Hu et al.|The American Journal of Human Genetics|2016Cited by 183
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J. Falk, Håkon Håkonarson, Dong Li et al.|JIMD Reports|2014Cited by 80
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A. Haijes, Peter M. van Hasselt, Maria J.E. Koster et al.|The American Journal of Human Genetics|2019Cited by 72
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Marni J. Falk, Rebecca Ganetzky et al.|Human Molecular Genetics|2018Cited by 59
Mutations in <i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Elaine H. Zackai, Dong Li et al.|Journal of Medical Genetics|2014Cited by 49