Shannon Rego

Publication Activity (10 Years)

Years Active: 2018-2021
Publications (10 Years): 6

Top Topics

Mitochondrial Dna

Top Venues

American journal of medical genetics. Part A

Cold Spring Harbor perspectives in medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Justin O Szot, Anne M Slavotinek, Karen Chong, Oliver Brandau, Marjan M Nezarati, Anna M Cueto-González, Millan S Patel, W Patrick Devine, Shannon Rego, Alicia P Acyinena, Patrick Shannon, Diane Myles-Reid, Susan I Blaser, Tim VAN Mieghem, Halenur Yavuz-Kienle, Heyko Skladny, Kristen Miller, Miereia D T Riera, Silvia A Martínez, Eduardo F Tizzano, Lucie Dupuis, Dimitri J Stavropoulos, Vanda McNiven, Roberto Mendoza-Londono, Alison M Elliott, null null, Robert S Phillips, Gavin Chapman, Sally L Dunwoodie
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human mutation 42 (7) (2021)
Shannon Rego, Megan E Grove, Mildred K Cho, Kelly E Ormond
Informed Consent in the Genomics Era. Cold Spring Harbor perspectives in medicine 10 (8) (2020)
Kathleen Barrus, Shannon Rego, Tiffany Yip, Pierre-Marie Martin, Orit A Glen, Jessica Van Ziffle, Anne M Slavotinek
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients. American journal of medical genetics. Part A 182 (12) (2020)
M Reza Sailani, Fereshteh Jahanbani, Charles W Abbott, Hayan Lee, Amin Zia, Shannon Rego, Juliane Winkelmann, Franziska Hopfner, Tahir N Khan, Nicholas Katsanis, Stefanie H Müller, Daniela Berg, Katherine M Lyman, Christian Mychajliw, Günther Deuschl, Jonathan A Bernstein, Gregor Kuhlenbäumer, Michael Paul Snyder
Candidate variants in TUB are associated with familial tremor. PLoS genetics 16 (9) (2020)
Shannon Rego, Orit Dagan-Rosenfeld, Stephanie A Bivona, Michael P Snyder, Kelly E Ormond
Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing. Journal of genetic counseling 28 (2) (2019)
Shannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, M Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen Craig, Denis Salins, Hannes L Röst, Jessilyn Dunn, Tracey McLaughlin, Lars M Steinmetz, Jonathan A Bernstein, Michael P Snyder
High-frequency actionable pathogenic exome variants in an average-risk cohort. Cold Spring Harbor molecular case studies 4 (6) (2018)