Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cynthia Zerillo"'
Autor:
Samir Al‐Ali, Lauren Jeffries, E. Vincent S. Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong‐hui Jiang, Michele Spencer‐Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M. McGrath, Thierry Tremblay, Nina N. Brodsky, Carrie L. Lucas, Richard Pierce, Engin Deniz, Mustafa K. Khokha, Saquib A. Lakhani
Publikováno v:
American Journal of Medical Genetics Part A. 188:2869-2878
The Pediatric Genomics Discovery Program (PGDP) at Yale uses next-generation sequencing (NGS) and translational research to evaluate complex patients with a wide range of phenotypes suspected to have rare genetic diseases. We conducted a retrospectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef77a8abfc31faac3a8bee1d4be1d174
https://doi.org/10.1002/ajmg.a.62918
https://doi.org/10.1002/ajmg.a.62918
Autor:
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Publikováno v:
Proceedings of the National Academy of Sciences. 120
While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fac2abf368895a63d99519d0d8f6827
https://doi.org/10.1073/pnas.2214997120
https://doi.org/10.1073/pnas.2214997120