Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia von Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, Haack, Tobias B., Haslinger, Bernhard, Strom, Tim M., Winkelmann, Juliane

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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center von Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias

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Severe ichthyosis in MPDU1-CDG von Thiel, Christian, Wortmann, Saskia, Riedhammer, Korbinian, Alhaddad, Bader, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix

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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) von Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E, Ranucci, Giusy, Thiel, Christian, Straub, Beate K, Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W, Kuloğlu, Zarife, Blakely, Emma L, Taylor, Robert W, Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F, Haack, Tobias B, Staufner, Christian

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Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS von Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Guenthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb von Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

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Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy von Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Pode-Shakked, Ben, Marek-Yagel, Dina, Grigat, Mathias, Schwarzmayr, Thomas, Berutti, Riccardo, Alhaddad, Bader, Kanon, Bart, Grzeschik, Nicola A., Okun, Jürgen G., Perles, Zeev, Salem, Yishay, Barel, Ortal, Vardi, Amir, Rubinshtein, Marina, Tirosh, Tal, Dubnov-Raz, Gal, Messias, Ana C., Terrile, Caterina, Barshack, Iris, Volkov, Alex, Avivi, Camilla, Eyal, Eran, Mastantuono, Elisa, Kumbar, Muhamad, Abudi, Shachar, Braunisch, Matthias, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Haack, Tobias B., Brundel, Bianca J.J.M., Haas, Dorothea, Sibon, Ody C.M., Anikster, Yair

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy von Deschauer, Marcus, Hengel, Holger, Rupprich, Katrin, Kreiß, Martina, Schlotter-Weigel, Beate, Grimmel, Mona, Admard, Jakob, Schneider, Ilka, Alhaddad, Bader, Gazou, Anastasia, Sturm, Marc, Vorgerd, Matthias, Balousha, Ghassan, Balousha, Osama, Falna, Mohammed, Kirschke, Jan S, Kornblum, Cornelia, Jordan, Berit, Kraya, Torsten, Strom, Tim M, Weis, Joachim, Schöls, Ludger, Schara, Ulrike, Zierz, Stephan, Riess, Olaf, Meitinger, Thomas, Haack, Tobias B

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Prospect of genetic disorders in Saudi Arabia von Alqahtani, Amerh S., Alotibi, Raniah S., Aloraini, Taghrid, Almsned, Fahad, Alassali, Yara, Alfares, Ahmed, Alhaddad, Bader, Al Eissa, Mariam M.

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 von Lenz, Dominic, Smith, Desirée E. C., Crushell, Ellen, Husain, Ralf A., Salomons, Gajja S., Alhaddad, Bader, Bernstein, Jonathan A., Bianzano, Alyssa, Biskup, Saskia, Brennenstuhl, Heiko, Caldari, Dominique, Dikow, Nicola, Haack, Tobias B., Hanson-Kahn, Andrea, Harting, Inga, Horn, Denise, Hughes, Joanne, Huijberts, Maya, Isidor, Bertrand, Kathemann, Simone, Kopajtich, Robert, Kotzaeridou, Urania, Küry, Sébastien, Lainka, Elke, Laugwitz, Lucia, Lupski, James R., Posey, Jennifer E., Reynolds, Claire, Rosenfeld, Jill A., Schröter, Julian, Vansenne, Fleur, Wagner, Matias, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Wortmann, Saskia B., Kölker, Stefan, Hoffmann, Georg F., Prokisch, Holger, Mendes, Marisa I., Staufner, Christian

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Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb von Umair, Muhammad, Bilal, Muhammad, Ali, Raja H., Alhaddad, Bader, Ahmad, Farooq, Abdullah, Haack, Tobias B., Alfadhel, Majid, Ansar, Muhammad, Meitinger, Thomas, Ahmad, Wasim

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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy von Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina

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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency von Puusepp, Sanna, Kovacs-Nagy, Reka, Alhaddad, Bader, Braunisch, Matthias, Hoffmann, Georg F, Kotzaeridou, Urania, Lichvarova, Lucia, Liiv, Mailis, Makowski, Christine, Mandel, Merle, Meitinger, Thomas, Pajusalu, Sander, Rodenburg, Richard J, Safiulina, Dzhamilja, Strom, Tim M, Talvik, Inga, Vaarmann, Annika, Wilson, Callum, Kaasik, Allen, Haack, Tobias B, Õunap, Katrin

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Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations von Al Eissa, Mariam M., Alotibi, Raniah S., Alhaddad, Bader, Aloraini, Taghrid, Samman, Manar S., AlAsiri, Abdulrahman, Abouelhoda, Mohamed, AlQahtani, Amerh S.

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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities von Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia M., Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie A., Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan E., Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan S., Anikster, Yair, Saltiel, Alan R., Distelmaier, Felix

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Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN) von Wambach, Jennifer A., Stettner, Georg M., Haack, Tobias B., Writzl, Karin, Škofljanec, Andreja, Maver, Aleš, Munell, Francina, Ossowski, Stephan, Bosio, Mattia, Wegner, Daniel J., Shinawi, Marwan, Baldridge, Dustin, Alhaddad, Bader, Strom, Tim M., Grange, Dorothy K., Wilichowski, Ekkehard, Troxell, Robin, Collins, James, Warner, Barbara B., Schmidt, Robert E., Pestronk, Alan, Cole, F. Sessions, Steinfeld, Robert

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Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies von Feichtinger, René G., Brunner-Krainz, Michaela, Alhaddad, Bader, Wortmann, Saskia B., Kovacs-Nagy, Reka, Stojakovic, Tatjana, Erwa, Wolfgang, Resch, Bernhard, Windischhofer, Werner, Verheyen, Sarah, Uhrig, Sabine, Windpassinger, Christian, Sternberg, Felix, Makowski, Christine, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang, Haack, Tobias B., Mayr, Johannes A.

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum von Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.

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Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes von Umair, Muhammad, Seidel, Heide, Ahmed, Ishtiaq, Ullah, Asmat, Haack, Tobias B., Alhaddad, Bader, Jan, Abid, Rafique, Afzal, Strom, Tim M., Ahmad, Farooq, Meitinger, Thomas, Ahmad, Wasim

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KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome von Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik‐Jan, Al‐Twaijri, Waleed, Alfadhel, Majid

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