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Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2275, doi. 10.3390/ijms20092275
By:
- El Shahawy, Maha;
- Reibring, Claes-Göran;
- Hallberg, Kristina;
- Neben, Cynthia L.;
- Marangoni, Pauline;
- Harfe, Brian D.;
- Klein, Ophir D.;
- Linde, Anders;
- Gritli-Linde, Amel
Publication type:
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.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
By:
- 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.
Publication type:
Article
Cell fate specification in the lingual epithelium is controlled by antagonistic activities of Sonic hedgehog and retinoic acid.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006914
By:
- El Shahawy, Maha;
- Reibring, Claes-Göran;
- Neben, Cynthia L.;
- Hallberg, Kristina;
- Marangoni, Pauline;
- Harfe, Brian D.;
- Klein, Ophir D.;
- Linde, Anders;
- Gritli-Linde, Amel
Publication type:
Article
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.
Published in:
NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0074-3
By:
- 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
Publication type:
Article
Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets.
Published in:
Database: The Journal of Biological Databases & Curation, 2020, v. 2020, p. 1, doi. 10.1093/database/baaa083
By:
- Berger, Mark J;
- Williams, Hannah E;
- Barrett, Ryan;
- Zimmer, Anjali D;
- McKennon, Wendy;
- Hong, Huy;
- Ginsberg, Jeremy;
- Zhou, Alicia Y;
- Neben, Cynthia L
Publication type:
Article
A scalable, aggregated genotypic–phenotypic database for human disease variation.
Published in:
Database: The Journal of Biological Databases & Curation, 2019, v. 2019, p. N.PAG, doi. 10.1093/database/baz013
By:
- Barrett, Ryan;
- Neben, Cynthia L;
- Zimmer, Anjali D;
- Mishne, Gilad;
- McKennon, Wendy;
- Zhou, Alicia Y;
- Ginsberg, Jeremy
Publication type:
Article
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening.
Published in:
Cancer Medicine, 2020, v. 9, n. 11, p. 4004, doi. 10.1002/cam4.2973
By:
- 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
Publication type:
Article
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 17, p. 3253, doi. 10.1093/hmg/ddx209
By:
- Neben, Cynthia L.;
- Tuzon, Creighton T.;
- Xiaojing Mao;
- Lay, Fides D.;
- Merrill, Amy E.
Publication type:
Article
Modeling craniofacial and skeletal congenital birth defects to advance therapies.
Published in:
Human Molecular Genetics, 2016, v. 25, n. R2, p. R86, doi. 10.1093/hmg/ddw171
By:
- Neben, Cynthia L.;
- Roberts, Ryan R.;
- Dipple, Katrina M.;
- Merrill, Amy E.;
- Klein, Ophir D.
Publication type:
Article
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5659, doi. 10.1093/hmg/ddu282
By:
- Neben, Cynthia L.;
- Idoni, Brian;
- Salva, Joanna E.;
- Tuzon, Creighton T.;
- Rice, Judd C.;
- Krakow, Deborah;
- Merrill, Amy E.
Publication type:
Article
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-17374-3
By:
- 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.
Publication type:
Article
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0682-2
By:
- Homburger, Julian R.;
- Neben, Cynthia L.;
- Mishne, Gilad;
- Zhou, Alicia Y.;
- Kathiresan, Sekar;
- Khera, Amit V.
Publication type:
Article
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
Published in:
PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006187
By:
- Noack Watt, Kristin E.;
- Achilleos, Annita;
- Neben, Cynthia L.;
- Merrill, Amy E.;
- Trainor, Paul A.
Publication type:
Article

Found: 13