Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Fahed, Akl C, Wang, Minxian, Homburger, Julian R, Patel, Aniruddh P, Bick, Alexander G, Neben, Cynthia L, Lai, Carmen, Brockman, Deanna, Philippakis, Anthony, Ellinor, Patrick T, Cassa, Christopher A, Lebo, Matthew, Ng, Kenney, Lander, Eric S, Zhou, Alicia Y, Kathiresan, Sekar, Khera, Amit V
Published in Nature communications (20.08.2020)
Published in Nature communications (20.08.2020)
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Journal Article
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome
Noack Watt, Kristin E, Achilleos, Annita, Neben, Cynthia L, Merrill, Amy E, Trainor, Paul A
Published in PLoS genetics (22.07.2016)
Published in PLoS genetics (22.07.2016)
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Journal Article
Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines
Neben, Cynthia L., Zimmer, Anjali D., Stedden, Will, van den Akker, Jeroen, O'Connor, Robert, Chan, Raymond C., Chen, Elaine, Tan, Zheng, Leon, Annette, Ji, Jack, Topper, Scott, Zhou, Alicia Y.
Published in The Journal of molecular diagnostics : JMD (01.07.2019)
Published in The Journal of molecular diagnostics : JMD (01.07.2019)
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Journal Article
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores
Homburger, Julian R, Neben, Cynthia L, Mishne, Gilad, Zhou, Alicia Y, Kathiresan, Sekar, Khera, Amit V
Published in Genome medicine (26.11.2019)
Published in Genome medicine (26.11.2019)
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Journal Article
Cell fate specification in the lingual epithelium is controlled by antagonistic activities of Sonic hedgehog and retinoic acid
El Shahawy, Maha, Reibring, Claes-Göran, Neben, Cynthia L, Hallberg, Kristina, Marangoni, Pauline, Harfe, Brian D, Klein, Ophir D, Linde, Anders, Gritli-Linde, Amel
Published in PLoS genetics (17.07.2017)
Published in PLoS genetics (17.07.2017)
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Journal Article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
Venner, Eric, Muzny, Donna, Smith, Joshua D, Walker, Kimberly, Neben, Cynthia L, Lockwood, Christina M, Empey, Phillip E, Metcalf, Ginger A, Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L, Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A, Nickerson, Deborah, Zhou, Alicia Y, Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E, Lennon, Niall J
Published in Genome medicine (28.03.2022)
Published in Genome medicine (28.03.2022)
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Journal Article
Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development
El Shahawy, Maha, Reibring, Claes-Göran, Hallberg, Kristina, Neben, Cynthia L, Marangoni, Pauline, Harfe, Brian D, Klein, Ophir D, Linde, Anders, Gritli-Linde, Amel
Published in International journal of molecular sciences (08.05.2019)
Published in International journal of molecular sciences (08.05.2019)
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Journal Article
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening
Cremin, Carol, Lee, Michael Kuan‐Ching, Hong, Quan, Hoeschen, Carolyn, Mackenzie, Anna, Dixon, Katherine, McCullum, Mary, Nuk, Jennifer, Kalloger, Steve, Karasinska, Joanna, Scudamore, Charles, Kim, Peter T. W., Donnellan, Fergal, Lam, Eric C. S., Lim, Howard J., Neben, Cynthia L., Stedden, Will, Zhou, Alicia Y., Schaeffer, David F., Sun, Sophie, Renouf, Daniel J., Schrader, Kasmintan A.
Published in Cancer medicine (Malden, MA) (01.06.2020)
Published in Cancer medicine (Malden, MA) (01.06.2020)
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Journal Article
Feedback regulation of RTK signaling in development
Neben, Cynthia L., Lo, Megan, Jura, Natalia, Klein, Ophir D.
Published in Developmental biology (01.03.2019)
Published in Developmental biology (01.03.2019)
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Journal Article
Ribosome biogenesis is dynamically regulated during osteoblast differentiation
Neben, Cynthia L., Lay, Fides D., Mao, Xiaojing, Tuzon, Creighton T., Merrill, Amy E.
Published in Gene (15.05.2017)
Published in Gene (15.05.2017)
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Journal Article
Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry
Gidding, Samuel S., Sheldon, Amanda, Neben, Cynthia L., Williams, Hannah E., Law, Sherman, Zhou, Alicia Y., Wilemon, Katherine, Ahmed, Catherine D., Kindt, Iris
Published in Journal of clinical lipidology (01.03.2020)
Published in Journal of clinical lipidology (01.03.2020)
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Journal Article
Modeling craniofacial and skeletal congenital birth defects to advance therapies
Neben, Cynthia L, Roberts, Ryan R, Dipple, Katrina M, Merrill, Amy E, Klein, Ophir D
Published in Human molecular genetics (01.10.2016)
Published in Human molecular genetics (01.10.2016)
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Journal Article
Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease
Maamari, Dimitri J, Brockman, Deanna G, Aragam, Krishna, Pelletier, Renée C, Folkerts, Emma, Neben, Cynthia L, Okumura, Sydney, Hull, Leland E, Philippakis, Anthony A, Natarajan, Pradeep, Ellinor, Patrick T, Ng, Kenney, Zhou, Alicia Y, Khera, Amit V, Fahed, Akl C
Published in JACC. Advances (Online) (01.08.2022)
Published in JACC. Advances (Online) (01.08.2022)
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Journal Article
A scalable, aggregated genotypic-phenotypic database for human disease variation
Barrett, Ryan, Neben, Cynthia L, Zimmer, Anjali D, Mishne, Gilad, McKennon, Wendy, Zhou, Alicia Y, Ginsberg, Jeremy
Published in Database : the journal of biological databases and curation (2019)
Published in Database : the journal of biological databases and curation (2019)
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Journal Article
Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
Berger, Mark J, Williams, Hannah E, Barrett, Ryan, Zimmer, Anjali D, McKennon, Wendy, Hong, Huy, Ginsberg, Jeremy, Zhou, Alicia Y, Neben, Cynthia L
Published in Database : the journal of biological databases and curation (2020)
Published in Database : the journal of biological databases and curation (2020)
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