Universität zu Köln

Journal Article

Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara ORCID: 0000-0002-0939-3213, Hunter, Jill, V, McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cedric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Milian, Francisca, Wentzensen, Ingrid M., Person, Richard E., Kury, Sebastien, Bezieau, Stephane, Uguen, Kevin, Ferec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Pena, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja and Schaaf, Christian P. (2019). Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., 21 (8). S. 1797 - 1808. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Gillentine, Madelyn A., Lupo, Philip J., Stankiewicz, Pawel and Schaaf, Christian P. (2018). An estimation of the prevalence of genomic disorders using chromosomal microarray data. J. Hum. Genet., 63 (7). S. 795 - 802. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan ORCID: 0000-0002-3037-2521, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Vergano, Samantha A. Schrier, Lose, Edward, Smigel, Robert, Lacassie, Yves and Schaaf, Christian P. (2018). Schaaf-Yang syndrome overview: Report of 78 individuals. Am. J. Med. Genet. A, 176 (12). S. 2564 - 2575. HOBOKEN: WILEY. ISSN 1552-4833