Cynthia L. Neben

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Akl C. Fahed, Minxian Wang, Julian R. Homburger et al. · Nature Communications · 2020 · 454 citations · Full text

Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene–Environment Interaction Study

Connor A. Emdin, Mary E. Haas, Veeral Ajmera et al. · Gastroenterology · 2020 · 124 citations · Full text

Genome-wide Association Study, Genetic Determinant, Gene-environment Interaction +11

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome

Kristin E. Noack Watt, Annita Achilleos, Cynthia L. Neben et al. · PLoS Genetics · 2016 · 112 citations · Full text

Genetics, Rna Pol, Molecular Biology +16

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

Julian R. Homburger, Cynthia L. Neben, Gilad Mishne et al. · Genome Medicine · 2019 · 112 citations · Full text

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

Cynthia L. Neben, Anjali D. Zimmer, Will Stedden et al. · Journal of Molecular Diagnostics · 2019 · 105 citations · Full text

Genetic Testing, Cancer Pathology, Genetics +19