Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

by James Margolin Havrilla, Mengge Zhao, Cong Liu, Chunhua Weng, Ingo Helbig, Elizabeth Bhoj, Kai Wang
Published 2021-07-01

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson
Published 2016-01-01

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

by Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Published 2020-06-01

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

by Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Published 2019-04-01