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

por Noack Watt, Kristin E., Achilleos, Annita, Neben, Cynthia L., Merrill, Amy E., Trainor, Paul A.
Publicado 2016

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

por Homburger, Julian R., Neben, Cynthia L., Mishne, Gilad, Zhou, Alicia Y., Kathiresan, Sekar, Khera, Amit V.
Publicado 2019

A scalable, aggregated genotypic–phenotypic database for human disease variation

por Barrett, Ryan, Neben, Cynthia L, Zimmer, Anjali D, Mishne, Gilad, McKennon, Wendy, Zhou, Alicia Y, Ginsberg, Jeremy
Publicado 2019

Cell fate specification in the lingual epithelium is controlled by antagonistic activities of Sonic hedgehog and retinoic acid

por El Shahawy, Maha, Reibring, Claes-Göran, Neben, Cynthia L., Hallberg, Kristina, Marangoni, Pauline, Harfe, Brian D., Klein, Ophir D., Linde, Anders, Gritli-Linde, Amel
Publicado 2017

Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development

por El Shahawy, Maha, Reibring, Claes-Göran, Hallberg, Kristina, Neben, Cynthia L., Marangoni, Pauline, Harfe, Brian D., Klein, Ophir D., Linde, Anders, Gritli-Linde, Amel
Publicado 2019

Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets

por Berger, Mark J, Williams, Hannah E, Barrett, Ryan, Zimmer, Anjali D, McKennon, Wendy, Hong, Huy, Ginsberg, Jeremy, Zhou, Alicia Y, Neben, Cynthia L
Publicado 2020

CNPY4 inhibits the Hedgehog pathway by modulating membrane sterol lipids

por Lo, Megan, Sharir, Amnon, Paul, Michael D., Torosyan, Hayarpi, Agnew, Christopher, Li, Amy, Neben, Cynthia, Marangoni, Pauline, Xu, Libin, Raleigh, David R., Jura, Natalia, Klein, Ophir D.
Publicado 2022

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

por AlHarbi, Musa, Mubarak, Nahla, AlMubarak, Latifa, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, AlJabarat, Weal, Alqubaishi, Fatimah, Al-Subaie, Lamia, AlTassan, Nada, Neben, Cynthia L., Zhou, Alicia Y., Abedalthagafi, Malak
Publicado 2018

Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease

por 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.
Publicado 2022

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

por 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.
Publicado 2020

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

por 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.
Publicado 2022

Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening

por 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.
Publicado 2020