Jennifer E. Posey

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 775 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James et al. · Genetics in Medicine · 2015 · 242 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13