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Showing 13 - 24 of 42 results
Publication

A Genocentric Approach to Discovery of Mendelian Disorders

Adam W. Hansen, Alexander Allori, Allison E. Ashley-Koch, Amanda French, Amy Murtha, Aniko Sabo, Azita Sadeghpour, B. Kim Andrews, Brita Boyd, C. Michael Cotten, Carolyn Pizoli, Christine M. Eng, Donna M. Muzny, Edward Smith, Eileen Chambers, Eric Boerwinkle, Erica E. Davis, Fritz J. Sedlazeck, He Li, Heidi Cope, James R. Lupski, Jeffrey Marcus, Jennifer E. Posey, Jill Rosenfeld, Joanne Kurtzberg, John Wiener, Kevin Hill, Kimberley Fisher, Liwen Wang, Margarita Bidegain, Marie McDonald, Michael F. Wangler, Michael M. Khayat, Misha Angrist, Mohammed Mikati, Mullai Murugan, Nicholas Katsanis, Patricia Ashley, Pengfei Liu, Richard A. Gibbs, Ronald Goldberg, Sara Katsanis, Sarah Ellestad, Shalini N. Jhangiani, Sherry Ross, Stephen Miller, Sujay Kansagra, Theresa Curington, Todd Purves, V. Reid Sutton, William Gallentine, Yaping Yang, Yezmin Perilla, Zeynep H. Coban Akdemir

Publication

Caring for trafficked and unidentified patients in the EHR shadows: Shining a light by sharing the data.

Sara H. Katsanis, Amanda Young, Elaine Huang, Elizabeth Warner, Jennifer K. Wagner, Sharon Larson, Victoria Grant

Publication

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

Tahir N. Khan, Alexander Allori, Amanda French, Amy Murtha, Azita Sadeghpour, Brita Boyd, C. Michael Cotten, Carolyn Pizoli, Edward Smith, Eileen Chambers, Erica E. Davis, Hannah Reynolds, Heidi Cope, Jeffrey Marcus, Joanne Kurtzberg, John Wiener, Kamal Khan, Kevin Hill, Kimberley Fisher, Margarita Bidegain, Marie McDonald, Marie T. McDonald, Misha Angrist, Mohammed Mikati, Nicholas Katsanis, Patricia Ashley, Ronald Goldberg, Sara Katsanis, Sarah Ellestad, Shahid M. Baig, Sherry Ross, Stephen Miller, Sujay Kansagra, Theresa Curington, Todd Purves, William Gallentine, William B. Gallentine, Yezmin Perilla

Publication

Consent process for US-based family reference DNA samples.

Sara H. Katsanis, Amy Z. Mundorff, Kelly Arnholt, Lindsey Snyder

Publication

Identification of cis -suppression of human disease mutations by comparative genomics

Daniel M. Jordan, Christelle Golzio, Christopher A. Cassa, Erica E. Davis, Joanne Kurtzberg, Nicholas Katsanis, Shamil R. Sunyaev, Stephan G. Frangakis

Publication

Perspectives on genetic and genomic technologies in an academic medical center: the duke experience.

Sara Katsanis, Allison Vorderstrasse, Geoffrey Ginsburg, Jason Reeves, Leigh Simmons, Mollie Minear, Nancy Yang, Robert Cook-Deegan, Tejinder Rakhra-Burris