Phenotype in an Infant with SOD1 Homozygous Truncating Mutation von Andersen, Peter M, Nordström, Ulrika, Tsiakas, Konstantinos, Johannsen, Jessika, Volk, Alexander E, Bierhals, Tatjana, Zetterström, Per, Marklund, Stefan L, Hempel, Maja, Santer, René

Volltext

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants von Zarate, Yuri A., Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Harako, Sora, Ishitani, Shizuka, Lehesjoki, Anna-Elina, Bierhals, Tatjana, Kloth, Katja, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Anderson, Katherine, Viskochil, David, Edgar-Zarate, Courtney L., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Morrow, Michelle M., Sanchez-Valle, Amarilis, Pappas, John, Rabin, Rachel, Muona, Mikko, Anttonen, Anna-Kaisa, Platzer, Konrad, Luppe, Johannes, Gburek-Augustat, Janina, Kaname, Tadashi, Okamoto, Nobuhiko, Mizuno, Seiji, Kaido, Yusaku, Ohkuma, Yoshiaki, Hirose, Yutaka, Ishitani, Tohru, Kosaki, Kenjiro

Volltext

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functio... von de Bagneaux, Pierre Coste, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J., Hempel, Maja, Flucher, Bernhard E., Kutsche, Kerstin

Volltext

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females von Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth

Volltext

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders von Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.

Volltext

The natural history of Canavan disease: 23 new cases and comparison with patients from literature von Bley, Annette, Denecke, Jonas, Kohlschuetter, Alfried, Schoen, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

Volltext

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use von Worthmann, Anna, Ridder, Julius, Piel, Sharlaine Y. L., Evangelakos, Ioannis, Musfeldt, Melina, Voß, Hannah, O’Farrell, Marie, Fischer, Alexander W., Adak, Sangeeta, Sundd, Monica, Siffeti, Hasibullah, Haumann, Friederike, Kloth, Katja, Bierhals, Tatjana, Heine, Markus, Pertzborn, Paul, Pauly, Mira, Scholz, Julia-Josefine, Kundu, Suman, Fuh, Marceline M., Neu, Axel, Tödter, Klaus, Hempel, Maja, Knippschild, Uwe, Semenkovich, Clay F., Schlüter, Hartmut, Heeren, Joerg, Scheja, Ludger, Kubisch, Christian, Schlein, Christian

Volltext

POLR3A variants with striatal involvement and extrapyramidal movement disorder von Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M. L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J. W., Wolf, Nicole I.

Volltext

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series von Seiffert, Simone, Pendziwiat, Manuela, Bierhals, Tatjana, Goel, Himanshu, Schwarz, Niklas, van der Ven, Amelie, Boßelmann, Christian Malte, Lemke, Johannes, Syrbe, Steffen, Willemsen, Marjolein Hanna, Hedrich, Ulrike Barbara Stefanie, Helbig, Ingo, Weber, Yvonne

Volltext

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus von Wagner, Matias, Lévy, Jonathan, Jung-Klawitter, Sabine, Bakhtiari, Somayeh, Monteiro, Fabiola, Maroofian, Reza, Bierhals, Tatjana, Hempel, Maja, Elmaleh-Bergès, Monique, Kitajima, Joao P., Kim, Chong A., Salomao, Julia G., Amor, David J., Cooper, Monica S., Perrin, Laurence, Pipiras, Eva, Neu, Axel, Doosti, Mohammad, Karimiani, Ehsan G., Toosi, Mehran B., Houlden, Henry, Jin, Sheng Chih, Si, Yue C., Rodan, Lance H., Venselaar, Hanka, Kruer, Michael C., Kok, Fernando, Hoffmann, Georg F., Strom, Tim M., Wortmann, Saskia B., Tabet, Anne-Claude, Opladen, Thomas

Volltext

Pontocerebellar hypoplasia type 2 and TSEN2 : Review of the literature and two novel mutations von Bierhals, Tatjana, Korenke, Georg Christoph, Uyanik, Gökhan, Kutsche, Kerstin

Volltext

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phen... von Papingi, Dzhoy, Bierhals, Tatjana, Volk, Alexander E., Kutsche, Michael, Paul, Kevin, Herget, Theresia

Volltext

TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans von Holling, Tess, Brylka, Laura, Scholz, Tasja, Bierhals, Tatjana, Herget, Theresia, Meinecke, Peter, Schinke, Thorsten, Oheim, Ralf, Kutsche, Kerstin

Volltext

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation von Schneeberger, Pauline E., Bierhals, Tatjana, Neu, Axel, Hempel, Maja, Kutsche, Kerstin

Volltext

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease von Polovitskaya, Maya M., Rana, Tanushka, Ullrich, Kurt, Murko, Simona, Bierhals, Tatjana, Vogt, Guido, Stauber, Tobias, Kubisch, Christian, Santer, René, Jentsch, Thomas J.

Volltext

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans von Hassani Nia, Fatemeh, Woike, Daniel, Bento, Isabel, Niebling, Stephan, Tibbe, Debora, Schulz, Kristina, Hirnet, Daniela, Skiba, Matilda, Hönck, Hans-Hinrich, Veith, Katharina, Günther, Christian, Scholz, Tasja, Bierhals, Tatjana, Driemeyer, Joenna, Bend, Renee, Failla, Antonio Virgilio, Lohr, Christian, Alai, Maria Garcia, Kreienkamp, Hans-Jürgen

Volltext

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance von Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Coban Akdemir, Zeynep, Shukla, Anju, Bierhals, Tatjana, Tabakci, Burcu, Sahin, Yavuz, Gezdirici, Alper, Fatih, Jawid M., Gulec, Elif Yilmaz, Yesil, Gozde, Punetha, Jaya, Ocak, Zeynep, Grochowski, Christopher M., Karaca, Ender, Albayrak, Hatice Mutlu, Radhakrishnan, Periyasamy, Erdem, Haktan Bagis, Sahin, Ibrahim, Yildirim, Timur, Bayhan, Ilhan A., Bursali, Aysegul, Elmas, Muhsin, Yuksel, Zafer, Ozdemir, Ozturk, Silan, Fatma, Yildiz, Onur, Yesilbas, Osman, Isikay, Sedat, Balta, Burhan, Gu, Shen, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Tsiakas, Konstantinos, Hempel, Maja, Girisha, Katta Mohan, Gul, Davut, Posey, Jennifer E., Elcioglu, Nursel H., Tuysuz, Beyhan, Lupski, James R.

Volltext

Paralog Studies Augment Gene Discovery: DDX and DHX Genes von Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

Volltext

Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature von Bierhals, Tatjana, Maddukuri, Satish Babu, Kutsche, Kerstin, Girisha, Katta Mohan

Volltext

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype von Kloth, Katja, Bierhals, Tatjana, Johannsen, Jessika, Harms, Frederike L., Juusola, Jane, Johnson, Mark C., Grange, Dorothy K., Kutsche, Kerstin

Volltext