PMC Links for OMIM (Select 617711) - PMC

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Items: 3

Select item 56301601.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Candace T. Myers, Nicholas Stong, Emily I. Mountier, Katherine L. Helbig, Saskia Freytag, Joseph E. Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen L. Oliver, Michelle E. Ernst, Natalie C. Lippa, Maureen S. Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen

Am J Hum Genet. 2017 Oct 5; 101(4): 516–524. Published online 2017 Sep 21. doi: 10.1016/j.ajhg.2017.08.013

PMCID:: PMC5630160

Article PDF–287K

Select item 47914902.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K. Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek-Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong-Hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

Genet Med. 2015 Oct; 17(10): 774–781. Published online 2015 Jan 15. doi: 10.1038/gim.2014.191