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Anzahl der Publikationen: 3
Zeitschriftenartikel
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb und Raby, Benjamin A.
(2022):
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2065-2078
Vermehren-Schmaedick, Anke; Huang, Jeffrey Y.; Levinson, Madison; Pomaville, Matthew B.; Reed, Sarah; Bellus, Gary A.; Gilbert, Fred; Keren, Boris; Heron, Delphine; Haye, Damien; Janello, Christine; Makowski, Christine; Danhauser, Katharina; Fedorov, Lev M.; Haack, Tobias B.; Wright, Kevin M. und Cohen, Michael S.
(2021):
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
In: Cells, Bd. 10, Nr. 6, 1289
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207