Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

by Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C. Dulik, Cara M. Skraban, Nancy B. Spinner
Published 2020-07-01

Novel Missense <i>CACNA1G</i> Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

by Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou
Published 2020-08-01

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

by Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Published 2021-07-01