Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

by Lora J. H. Bean, Madhuri R. Hegde
Published 2017-12-01

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

by Hong Li, Lihua Zhao, Rani Singh, J. Nina Ham, Doris O. Fadoju, Lora J.H. Bean, Yan Zhang, Yong Xu, H. Eric Xu, Michael J. Gambello
Published 2018-12-01

An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction.

by Tiffany Renee Oliver, Candace D Middlebrooks, Stuart W Tinker, Emily Graves Allen, Lora J H Bean, Ferdouse Begum, Eleanor Feingold, Reshmi Chowdhury, Vivian Cheung, Stephanie L Sherman
Published 2014-01-01

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects

by Benjamin L. Rambo-Martin, Jennifer G. Mulle, David J. Cutler, Lora J. H. Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford Cua, George Capone, Cheryl L. Maslen, Roger H. Reeves, Stephanie L. Sherman, Michael E. Zwick
Published 2018-01-01