Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

by Christina N. Vallianatos, Clara Farrehi, Michael J. Friez, Margit Burmeister, Margit Burmeister, Margit Burmeister, Margit Burmeister, Catherine E. Keegan, Catherine E. Keegan, Shigeki Iwase
Published 2018-04-01

Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.

by Christopher N Vlangos, Amanda N Siuniak, Dan Robinson, Arul M Chinnaiyan, Robert H Lyons, James D Cavalcoli, Catherine E Keegan
Published 2013-01-01

Aged PROP1 deficient dwarf mice maintain ACTH production.

by Igor O Nasonkin, Robert D Ward, David L Bavers, Felix Beuschlein, Amanda H Mortensen, Catherine E Keegan, Gary D Hammer, Sally A Camper
Published 2011-01-01

TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis

by Sherilyn Grill, Shilpa Padmanaban, Ann Friedman, Eric Perkey, Frederick Allen, Valerie M. Tesmer, Jennifer Chase, Rami Khoriaty, Catherine E. Keegan, Ivan Maillard, Jayakrishnan Nandakumar
Published 2021-05-01

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

by Johanna Magdalena Rieke, Johanna Magdalena Rieke, Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Michael Pleschka, Alina C. Hilger, Alina C. Hilger, Sophia Schneider, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Catherine E. Keegan, Amit Sharma, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Ekkehart Jenetzky, Alfredo Brusco, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Adrian S. Woolf, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter, Heiko Reutter
Published 2020-08-01