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Anzahl der Publikationen: 3
Zeitschriftenartikel
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G. und Lorenzo, Damaris N.
(2021):
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
In: Nature Genetics, Bd. 53, Nr. 7:
1006-+
[PDF, 9MB]
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
[PDF, 703kB]
Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A. und Raymond, F. Lucy
(2018):
SYT1-associated neurodevelopmental disorder: a case series.
In: Brain, Bd. 141: S. 2576-2591