Universität zu Köln

Erger, Florian ORCID: 0000-0002-2768-1702, Schaaf, Christian P. and Netzer, Christian (2019). Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol. Cell. Probes, 45. S. 84 - 89. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

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., Lozoya, Ricardo, Yin, Jiani, Grochowski, Christopher M., White, Janson J., Schaaf, Christian P. and Calarge, Chadi A. (2018). CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders. J. Affect. Disord., 239. S. 247 - 253. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1573-2517

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

Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan ORCID: 0000-0002-3037-2521, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wodl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P. and Kuechler, Alma (2020). The adult phenotype of Schaaf-Yang syndrome. Orphanet J. Rare Dis., 15 (1). LONDON: BMC. ISSN 1750-1172

Marbach, Felix ORCID: 0000-0003-3953-6235, Stoyanov, Georgi, Erger, Florian ORCID: 0000-0002-2768-1702, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah ORCID: 0000-0001-9906-4968, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya ORCID: 0000-0003-2172-8036, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber and Schaaf, Christian P. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet. Med., 23 (8). S. 1465 - 1474. LONDON: SPRINGERNATURE. ISSN 1530-0366

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

Thomason, Molly Mishler, McCarthy, John, Goin-Kochel, Robin P., Dowell, Lauren R., Schaaf, Christian P. and Berry, Leandra N. (2020). Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. J. Autism Dev. Disord., 50 (7). S. 2491 - 2501. NEW YORK: SPRINGER/PLENUM PUBLISHERS. ISSN 1573-3432

Titgemeyer, Sarah Catrin ORCID: 0000-0002-9638-5114 and Schaaf, Christian P. (2022). Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns. JMIR Pediatr. Parent., 5 (1). TORONTO: JMIR PUBLICATIONS, INC. ISSN 2561-6722

Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen ORCID: 0000-0002-9418-3287, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit ORCID: 0000-0003-3524-661X, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei ORCID: 0000-0002-4177-709X, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping and Wang, Xia ORCID: 0000-0002-7750-1167 (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am. J. Hum. Genet., 103 (1). S. 154 - 163. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Velmans, Clara ORCID: 0000-0002-3352-1035, O'Donnell-Luria, Anne H., Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio ORCID: 0000-0003-3717-8374, Chan, Marcus C. Y., Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denomme-Pichon, Anne-Sophie ORCID: 0000-0002-8986-8222, de Dios, John Karl ORCID: 0000-0001-9125-0117, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M. B. H., Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphne, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S., Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H., Superti-Furga, Andrea, Chung, Brian H. Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P. and Erger, Florian . O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J. Med. Genet.. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E. ORCID: 0000-0003-4814-6765, Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby ORCID: 0000-0002-1852-2849, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjorg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui and Liu, Pengfei ORCID: 0000-0002-4177-709X (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet. Med., 21 (3). S. 663 - 676. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366