Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
Get full text
Journal Article
DEPDC5 mutations in genetic focal epilepsies of childhood
Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Muhle, Hiltrud, Riesch, Erik, Kluger, Gerhard, Jabbari, Kamel, Kawalia, Amit, Bäumel, Christine, Holthausen, Hans, Hahn, Andreas, Feucht, Martha, Neophytou, Birgit, Haberlandt, Edda, Becker, Felicitas, Altmüller, Janine, Thiele, Holger, Lemke, Johannes R., Lerche, Holger, Nürnberg, Peter, Sander, Thomas, Weber, Yvonne, Zimprich, Fritz, Neubauer, Bernd A.
Published in Annals of neurology (01.05.2014)
Published in Annals of neurology (01.05.2014)
Get full text
Journal Article
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J
Published in Frontiers in genetics (22.09.2017)
Published in Frontiers in genetics (22.09.2017)
Get full text
Journal Article
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow
Kawalia, Amit, Motameny, Susanne, Wonczak, Stephan, Thiele, Holger, Nieroda, Lech, Jabbari, Kamel, Borowski, Stefan, Sinha, Vishal, Gunia, Wilfried, Lang, Ulrich, Achter, Viktor, Nürnberg, Peter
Published in PloS one (05.05.2015)
Published in PloS one (05.05.2015)
Get full text
Journal Article
Rare gene deletions in genetic generalized and Rolandic epilepsies
Jabbari, Kamel, Bobbili, Dheeraj R, Lal, Dennis, Reinthaler, Eva M, Schubert, Julian, Wolking, Stefan, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmüller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, André G, Ikram, M Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz, Sander, Thomas, Neubauer, Bernd A, May, Patrick, Lerche, Holger, Nürnberg, Peter
Published in PloS one (27.08.2018)
Published in PloS one (27.08.2018)
Get full text
Journal Article
Correction: The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
Get full text
Journal Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
Get full text
Journal Article
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
Budde, Birgit S., Aly, Maha Abdelgaber, Mohamed, Mostafa R., Breß, Andreas, Altmüller, Janine, Motameny, Susanne, Kawalia, Amit, Thiele, Holger, Konrad, Kathryn, Becker, Christian, Toliat, Mohammad R., Nürnberg, Gudrun, Sayed, Eman Abdel Fattah, Mohamed, Enass Sayed, Pfister, Markus, Nürnberg, Peter
Published in Clinical genetics (01.07.2020)
Published in Clinical genetics (01.07.2020)
Get full text
Journal Article
The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
Get full text
Journal Article
Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood
Lardenoije, Roy, Roubroeks, Janou A Y, Pishva, Ehsan, Leber, Markus, Wagner, Holger, Iatrou, Artemis, Smith, Adam R, Smith, Rebecca G, Eijssen, Lars M T, Kleineidam, Luca, Kawalia, Amit, Hoffmann, Per, Luck, Tobias, Riedel-Heller, Steffi, Jessen, Frank, Maier, Wolfgang, Wagner, Michael, Hurlemann, René, Kenis, Gunter, Ali, Muhammad, Del Sol, Antonio, Mastroeni, Diego, Delvaux, Elaine, Coleman, Paul D, Mill, Jonathan, Rutten, Bart P F, Lunnon, Katie, Ramirez, Alfredo, van den Hove, Daniël L A
Published in Clinical epigenetics (27.11.2019)
Published in Clinical epigenetics (27.11.2019)
Get full text
Journal Article
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
Reinthaler, Eva M., Dejanovic, Borislav, Lal, Dennis, Semtner, Marcus, Merkler, Yvonne, Reinhold, Annika, Pittrich, Dorothea A., Hotzy, Christoph, Feucht, Martha, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Neophytou, Birgit, Geldner, Julia, Haberlandt, Edda, Muhle, Hiltrud, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Altmüller, Janine, Kawalia, Amit, Toliat, Mohammad R., Nürnberg, Peter, Lerche, Holger, Nothnagel, Michael, Thiele, Holger, Sander, Thomas, Meier, Jochen C., Schwarz, Günter, Neubauer, Bernd A., Zimprich, Fritz
Published in Annals of neurology (01.06.2015)
Published in Annals of neurology (01.06.2015)
Get full text
Journal Article
Rare variants in [gamma]-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
Reinthaler, Eva M, Dejanovic, Borislav, Lal, Dennis, Semtner, Marcus, Merkler, Yvonne, Reinhold, Annika, Pittrich, Dorothea A, Hotzy, Christoph, Feucht, Martha, Steinbock, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M, Neophytou, Birgit, Geldner, Julia, Haberlandt, Edda, Muhle, Hiltrud, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Altmuller, Janine, Kawalia, Amit, Toliat, Mohammad R, Nurnberg, Peter, Lerche, Holger, Nothnagel, Michael, Thiele, Holger, Sander, Thomas, Meier, Jochen C, Schwarz, Gunter, Neubauer, Bernd A, Zimprich, Fritz
Published in Annals of neurology (01.06.2015)
Published in Annals of neurology (01.06.2015)
Get full text
Journal Article
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing
Altmüller, Janine, Haenisch, Britta, Kawalia, Amit, Menzen, Markus, Nöthen, Markus M., Fier, Heide, Molderings, Gerhard J.
Published in Immunogenetics (New York) (01.06.2017)
Published in Immunogenetics (New York) (01.06.2017)
Get full text
Journal Article
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
Zhang, Rong, Gehlen, Jan, Kawalia, Amit, Melissari, Maria-Theodora, Dakal, Tikam Chand, Menon, Athira M, Höfele, Julia, Riedhammer, Korbinian, Waffenschmidt, Lea, Fabian, Julia, Breuer, Katinka, Kalanithy, Jeshurun, Hilger, Alina Christine, Sharma, Amit, Hölscher, Alice, Boemers, Thomas M, Pauly, Markus, Leutner, Andreas, Fuchs, Jörg, Seitz, Guido, Ludwikowski, Barbara M, Gomez, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Kurz, Ralf, Leonhardt, Johannes, Kosch, Ferdinand, Holland-Cunz, Stefan, Münsterer, Oliver, Ure, Beno, Schmiedeke, Eberhard, Neser, Jörg, Degenhardt, Petra, Märzheuser, Stefanie, Kleine, Katharina, Schäfer, Mattias, Spychalski, Nicole, Deffaa, Oliver J, Gosemann, Jan-Hendrik, Lacher, Martin, Heilmann-Heimbach, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Ludwig, Michael, Grote, Phillip, Schumacher, Johannes, Thiele, Holger, Reutter, Heiko, Santos-Cortez, Regie Lyn Pastor
Published in PloS one (05.06.2020)
Published in PloS one (05.06.2020)
Get full text
Journal Article
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Karsak, Meliha, Glebov, Konstantin, Scheffold, Marina, Bajaj, Thomas, Kawalia, Amit, Karaca, Ilker, Rading, Sebastian, Kornhuber, Johannes, Peters, Oliver, Diez‐Fairen, Monica, Frölich, Lutz, Hüll, Michael, Wiltfang, Jens, Scherer, Martin, Riedel‐Heller, Steffi, Schneider, Anja, Heneka, Michael T., Fliessbach, Klaus, Sharaf, Ahmed, Thiele, Holger, Lennarz, Martina, Jessen, Frank, Maier, Wolfgang, Kubisch, Christian, Ignatova, Zoya, Nürnberg, Peter, Pastor, Pau, Walter, Jochen, Ramirez, Alfredo
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
Get full text
Journal Article
T40. Alzheimer’s Disease DNA (Hydroxy)Methylome in the Brain and Blood: Evidence for OXT Methylation as a Preclinical Marker
Lardenoije, Roy, Roubroeks, Janou, Pishva, Ehsan, Leber, Markus, Wagner, Holger, Iatrou, Artemis, Smith, Adam, Smith, Rebecca, Eijssen, Lars, Kleineidam, Luca, Kawalia, Amit, Hoffmann, Per, Luck, Tobias, Riedel-Heller, Steffi, Jessen, Frank, Maier, Wolfgang, Wagner, Michael, Kenis, Gunter, Ali, Muhammad, Sol, Antonio del, Mastroeni, Diego, Delvaux, Elaine, Coleman, Paul, Mill, Jonathan, Rutten, Bart, Lunnon, Katie, Ramirez, Alfredo, van den Hove, Daniël
Published in Biological psychiatry (1969) (15.05.2019)
Published in Biological psychiatry (1969) (15.05.2019)
Get full text
Journal Article
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
Get full text
Journal Article
Novel mutations in SLC6A5 with benign course in hyperekplexia
Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nürnberg, Peter, Motameny, Susanne, Thiele, Holger, Cirak, Sebahattin
Published in Cold Spring Harbor molecular case studies (01.12.2019)
Published in Cold Spring Harbor molecular case studies (01.12.2019)
Get full text
Journal Article
SORL1‐variant carriers in ADES‐ADSP: A higher level of variant pathogenicity associates with earlier age at onset of Alzheimer's disease
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier‐Boley, Benjamin, Quenez, Olivier, Ahmad, Shahzad, Amin, Najaf, van Rooij, Jeroen G.J., Grozeva, Detelina, Norsworthy, Penny, Hummerich, Holger, Kawalia, Amit, Mok, Kin Y., Shoai, Maryam, Dols‐Icardo, Oriol, van Der Flier, Wiesje, Sims, Rebecca, Amouyel, Philippe, Hardy, John, Clarimon, Jordi, Mead, Simon, van Swieten, John C., Ramirez, Alfredo, van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean‐Charles
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
Get full text
Journal Article
SORL1 ‐variant carriers in ADES‐ADSP: A higher level of variant pathogenicity associates with earlier age at onset of Alzheimer's disease: Genetics/genetic factors of Alzheimer's disease
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier‐Boley, Benjamin, Quenez, Olivier, Ahmad, Shahzad, Amin, Najaf, van Rooij, Jeroen G.J., Grozeva, Detelina, Norsworthy, Penny, Hummerich, Holger, Kawalia, Amit, Mok, Kin Y., Shoai, Maryam, Dols‐Icardo, Oriol, van Der Flier, Wiesje, Sims, Rebecca, Amouyel, Philippe, Hardy, John, Clarimon, Jordi, Mead, Simon, van Swieten, John C., Ramirez, Alfredo, van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean‐Charles
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
Get full text
Journal Article