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

by Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor
Published 2016-07-01

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

by Julian R. Homburger, Cynthia L. Neben, Gilad Mishne, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
Published 2019-11-01

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

by Maha El Shahawy, Claes-Göran Reibring, Cynthia L Neben, Kristina Hallberg, Pauline Marangoni, Brian D Harfe, Ophir D Klein, Anders Linde, Amel Gritli-Linde
Published 2017-07-01

Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development

by Maha El Shahawy, Claes-Göran Reibring, Kristina Hallberg, Cynthia L. Neben, Pauline Marangoni, Brian D. Harfe, Ophir D. Klein, Anders Linde, Amel Gritli-Linde
Published 2019-05-01

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

by Akl C. Fahed, Minxian Wang, Julian R. Homburger, Aniruddh P. Patel, Alexander G. Bick, Cynthia L. Neben, Carmen Lai, Deanna Brockman, Anthony Philippakis, Patrick T. Ellinor, Christopher A. Cassa, Matthew Lebo, Kenney Ng, Eric S. Lander, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
Published 2020-08-01

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

by Carol Cremin, Michael Kuan‐Ching Lee, Quan Hong, Carolyn Hoeschen, Anna Mackenzie, Katherine Dixon, Mary McCullum, Jennifer Nuk, Steve Kalloger, Joanna Karasinska, Charles Scudamore, Peter T. W. Kim, Fergal Donnellan, Eric C. S. Lam, Howard J. Lim, Cynthia L. Neben, Will Stedden, Alicia Y. Zhou, David F. Schaeffer, Sophie Sun, Daniel J. Renouf, Kasmintan A. Schrader
Published 2020-06-01