Entries of Kuechler, Alma on the publication server

Lessel, Ivana , Baresic, Anja, Chinn, Ivan K., May, Jonathan, Goenka, Anu, Chandler, Kate E., Posey, Jennifer E., Afenjar, Alexandra, Averdunk, Luisa, Bedeschi, Maria Francesca, Besnard, Thomas, Brager, Rae, Brick, Lauren, Brugger, Melanie, Brunet, Theresa, Byrne, Susan, Calle-Martín, Oscar de la, Capra, Valeria, Cardenas, Paul, Chappé, Céline, Chong, Hey J., Cogne, Benjamin, Conboy, Erin, Cope, Heidi, Courtin, Thomas, Deb, Wallid, Dilena, Robertino, Dubourg, Christèle, Elgizouli, Magdeldin, Fernandes, Erica, Fitzgerald, Kristi K., Gangi, Silvana, George-Abraham, Jaya K., Gucsavas-Calikoglu, Muge, Haack, Tobias B., Hadonou, Medard, Hanker, Britta, Hüning, Irina, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma, Jin, Jay J., Jorge, Alexander A.L., Josifova, Dragana, Kalinauskiene, Ruta, Kamsteeg, Erik-Jan, Keren, Boris, Kessler, Elena, Kölbel, Heike, Kozenko, Mariya, Kubisch, Christian , Kuechler, Alma, Leal, Suzanne M., Leppälä, Juha, Luu, Sharon M., Lyon, Gholson J., Madan-Khetarpal, Suneeta, Mancardi, Margherita, Marchi, Elaine, Mehta, Lakshmi, Menendez, Beatriz, Morel, Chantal F., Harasink, Sue Moyer, Nevay, Dayna-Lynn, Nigro, Vincenzo, Odent, Sylvie, Oegema, Renske , Pappas, John , Pastore, Matthew T., Perilla-Young, Yezmin, Platzer, Konrad, Powell-Hamilton, Nina, Rabin, Rachel, Rekab, Aisha, Rezende, Raissa C., Robert, Leema, Romano, Ferruccio, Scala, Marcello, Poths, Karin, Schrauwen, Isabelle, Sebastian, Jessica, Short, John, Sidlow, Richard, Sullivan, Jennifer, Szakszon, Katalin, Tan, Queenie K.G., Wagner, Matias, Wieczorek, Dagmar, Yuan, Bo, Maeding, Nicole, Strunk, Dirk , Begtrup, Amber, Banka, Siddharth, Lupski, James R., Tolosa, Eva and Lessel, Davor (2025) DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics 112 (2), pp. 394-413.

Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. European Journal of Medical Genetics 64 (10), p. 104310. Fulltext not available.

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. and Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), pp. 33-40. Fulltext not available.

Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike and Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1). Fulltext not available.

Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André , Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B., Wieland, Thomas, Engels, Hartmut, Prokisch, Holger , Strom, Tim M., Lüdecke, Hermann-Josef and Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), pp. 183-191. Fulltext not available.

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia , Citterio, Andrea , Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara , Oehl-Jaschkowitz, Barbara, Rossi, Andrea , Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria and Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), pp. 5080-5092. Fulltext not available.

Wieczorek, Dagmar, Newman, William G. , Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian , Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G. , Bhaskar, Sanjeev S., Urquhart, Jill E. , Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R. , Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas , Burn, John, Lüdecke, Hermann-Josef and Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. The American Journal of Human Genetics 95 (6), pp. 698-707. Fulltext not available.

Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina , Albrecht, Beate, Callewaert, Bert , von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd , Steehouwer, Marloes, Teller, Christopher, Martin, Marcel , Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef and Wieczorek, Dagmar (2013) Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet Journal of Rare Diseases 8 (1). Fulltext not available.

Wieczorek, Dagmar, Gener, Blanca, González, Ma Jesús Martínez, Seland, Saskia, Fischer, Sven, Hehr, Ute, Kuechler, Alma, Hoefsloot, Lies H., de Leeuw, Nicole, Gillessen‐Kaesbach, Gabriele and Lohmann, Dietmar R. (2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A (5), pp. 837-843. Fulltext not available.

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, Christian, Susan L, Ullmann, Reinhard, Kuechler, Alma, Haas, Carola A, Flubacher, Armin, Charnas, Lawrence R, Uyanik, Gökhan, Frank, Ulrich, Klopocki, Eva , Dobyns, William B and Kutsche, Kerstin (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), pp. 1065-1067. Fulltext not available.