POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Autor: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

Publikováno v: In The American Journal of Human Genetics 4 May 2023 110(5):809-825

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Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies.

Autor: Inskeep, Katherine A., Zarate, Yuri A., Monteil, Danielle, Spranger, Jurgen, Doherty, Dan, Stottmann, Rolf W., Weaver, K. Nicole

Publikováno v: American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p104-115, 12p

SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.

Autor: Inskeep KA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA., Crase B; Department of Neuroscience, The Ohio State University College of Arts and Sciences, Columbus, OH 43210, USA., Dayarathna T; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA., Stottmann RW; Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.

Publikováno v: Development (Cambridge, England) [Development] 2024 Nov 15; Vol. 151 (22). Date of Electronic Publication: 2024 Nov 15.