Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs

por Liehr, Thomas, Fleischer, Nicole, Al‐Rikabi, Ahmed
Publicado 2021

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

por Körber, Laura, Schneider, Holm, Fleischer, Nicole, Maier-Wohlfart, Sigrun
Publicado 2021

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Nove...

por Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea
Publicado 2020

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

por Mak, Bryan C., Sanchez Russo, Rossana, Gambello, Michael J., Fleischer, Nicole, Black, Emily D., Leslie, Elizabeth, Murphy, Melissa M., Mulle, Jennifer Gladys
Publicado 2021

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

por Pantel, Jean T., Zhao, Max, Mensah, Martin A., Hajjir, Nurulhuda, Hsieh, Tzung-Chien, Hanani, Yair, Fleischer, Nicole, Kamphans, Tom, Mundlos, Stefan, Gurovich, Yaron, Krawitz, Peter M.
Publicado 2018

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

por Peng, Chengyao, Dieck, Simon, Schmid, Alexander, Ahmad, Ashar, Knaus, Alexej, Wenzel, Maren, Mehnert, Laura, Zirn, Birgit, Haack, Tobias, Ossowski, Stephan, Wagner, Matias, Brunet, Theresa, Ehmke, Nadja, Danyel, Magdalena, Rosnev, Stanislav, Kamphans, Tom, Nadav, Guy, Fleischer, Nicole, Fröhlich, Holger, Krawitz, Peter
Publicado 2021

Vici syndrome in Israel: Clinical and molecular insights

por Chorin, Odelia, Hirsch, Yoel, Rock, Rachel, Salzer Sheelo, Liat, Goldberg, Yael, Mandel, Hanna, Hershkovitz, Tova, Fleischer, Nicole, Greenbaum, Lior, Katz, Uriel, Barel, Ortal, Hamed, Nasrin, Ben-Zeev, Bruria, Greenberger, Shoshana, Nasser Samra, Nadra, Stern Zimmer, Michal, Raas-Rothschild, Annick, Pode-Shakked, Ben
Publicado 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

por Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid
Publicado 2022

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

por Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S., Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N., Schelhaas, Helenius J., Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2018

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

por Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Publicado 2020

PEDIA: prioritization of exome data by image analysis

por Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2019