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1. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Heinzen, Erin L.; O’Neill, Adam C.; Zhu, Xiaolin; Allen, Andrew S.; Bahlo, Melanie; Chelly, Jamel; Chen, Ming Hui; Dobyns, William B.; Freytag, Saskia; Guerrini, Renzo; Leventer, Richard J.; Poduri, Annapurna; Robertson, Stephen P.; Walsh, Christopher A.; Zhang, Mengqi; Epilepsy Phenome/Genome Project; Epi4K Consortium
2018
Articles
GeneticsNeurosciencesEpilepsyGenomics

2. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua S.; Ren, Zhong; Kamalakaran, Sitharthan; O’Driscoll-Collins, Ailbhe; Berkovic, Samuel F.; Scheffer, Ingrid E.; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H.; Allen, Andrew S.; Heinzen, Erin L.; Goldstein, David B.
2017
Articles
Epilepsy--Genetic aspectsMutation (Biology)Nucleotide sequenceGenetics