Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features
Trinh, Joanne, Hüning, Irina, Budler, Nadja, Hingst, Volker, Lohmann, Katja, Gillessen-Kaesbach, Gabriele
Published in Journal of human genetics (01.11.2017)
Published in Journal of human genetics (01.11.2017)
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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, Wagner, Matias
Published in Genetics in medicine (01.02.2024)
Published in Genetics in medicine (01.02.2024)
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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Graessner, Holm, Reinhard, Carola, Bäumer, Tobias, Baumgärtner, Annette, Brockmann, Knut, Brüggemann, Norbert, Bültmann, Eva, Erdmann, Jeanette, Heise, Kirstin, Höglinger, Günter, Hüning, Irina, Kaiser, Frank J, Klein, Christine, Klopstock, Thomas, Krägeloh-Mann, Ingeborg, Kraemer, Markus, Luedtke, Kerstin, Mücke, Martin, Musacchio, Thomas, Nadke, Andreas, Osmanovic, Alma, Ritter, Gabriele, Röse, Katharina, Schippers, Christopher, Schöls, Ludger, Schüle, Rebecca, Schulz, Jörg B, Sproß, Joachim, Stasch, Eveline, Wunderlich, Gilbert, Münchau, Alexander
Published in Orphanet journal of rare diseases (13.02.2024)
Published in Orphanet journal of rare diseases (13.02.2024)
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Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
Zech, Michael, Brunet, Theresa, Škorvánek, Matej, Blaschek, Astrid, Vill, Katharina, Hanker, Britta, Hüning, Irina, Haň, Vladimír, Došekova, Petra, Gdovinová, Zuzana, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Růžička, Evžen, Kamsteeg, Erik-Jan, van der Smagt, Jasper J., Wagner, Matias, Jech, Robert, Winkelmann, Juliane
Published in Parkinsonism & related disorders (01.08.2020)
Published in Parkinsonism & related disorders (01.08.2020)
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Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Recke, Andreas, Massalme, Elisabeth G., Jappe, Uta, Steinmüller‐Magin, Lars, Schmidt, Julia, Hellenbroich, Yorck, Hüning, Irina, Gillessen‐Kaesbach, Gabriele, Zillikens, Detlef, Hartmann, Karin
Published in Clinical and translational allergy (14.02.2019)
Published in Clinical and translational allergy (14.02.2019)
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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors
Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G. Christoph, Kroisel, Peter M., Kunstmann, Erdmute, Mair, Martina, Munk‐Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik‐Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H., Felbor, Ute
Published in Molecular genetics & genomic medicine (01.03.2014)
Published in Molecular genetics & genomic medicine (01.03.2014)
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
Baasch, Anna‐Lena, Hüning, Irina, Gilissen, Christian, Klepper, Joerg, Veltman, Joris A., Gillessen‐Kaesbach, Gabriele, Hoischen, Alexander, Lohmann, Katja
Published in Epilepsia (Copenhagen) (01.04.2014)
Published in Epilepsia (Copenhagen) (01.04.2014)
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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5
Eggermann, Thomas, Kraft, Florian, Kloth, Katja, Klopocki, Eva, Hüning, Irina, Hempel, Maja, Kunstmann, Erdmute
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
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Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Lohmann, Katja, Masuho, Ikuo, Patil, Dipak N, Baumann, Hauke, Hebert, Eva, Steinrücke, Sofia, Trujillano, Daniel, Skamangas, Nickolas K, Dobricic, Valerija, Hüning, Irina, Gillessen-Kaesbach, Gabriele, Westenberger, Ana, Savic-Pavicevic, Dusanka, Münchau, Alexander, Oprea, Gabriela, Klein, Christine, Rolfs, Arndt, Martemyanov, Kirill A
Published in Human molecular genetics (15.03.2017)
Published in Human molecular genetics (15.03.2017)
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Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
Platzer, Konrad, Hüning, Irina, Obieglo, Carolin, Schwarzmayr, Thomas, Gabriel, Rainer, Strom, Tim M., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J, Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, Jr, J Lloyd, Lesca, Gaetan, Mancardi, Maria M, Poulat, Anne L, Repetto, Gabriela M, Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E, Bosch, Friedrich, Brockmann, Knut, Cross, J Helen, Doummar, Diane, Félix, Temis M, Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M, Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T, Peluso, Silvio, Mey, Antje, Rice, Gregory M, Rosenfeld, Jill A, Taylor, Jenny C, Troester, Matthew M, Stanley, Christine M, Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R, Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F, Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B, Oliver, Karen L, Berkovic, Samuel F, Scheffer, Ingrid E, de Falco, Fabrizio A, Oliver, Peter L, Striano, Pasquale, Zara, Federico, Campeau, Phillipe M, Sisodiya, S M
Published in Neurology (05.07.2016)
Published in Neurology (05.07.2016)
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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Schmidt, Axel, Danyel, Magdalena, Brunet, Theresa, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kornak, Uwe, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Rothoeft, Tobias, Brinkmann, Folke, Sivalingam, Sugirthan, Mangold, Elisabeth, Kreiss, Martina, Spier, Isabel, Stieber, Christiane, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Kimmich, Okka, Önder, Demet, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Lee-Kirsch, Min Ae, Schuetz, Catharina, Körholz, Julia, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Hirtz, Raphael, Schlein, Christian, Lisfeld, Jasmin, Herget, Theresia, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Hinderhofer, Katrin, Okun, Pamela M., Choukair, Daniela, Bettendorf, Markus, Ripke, Annekatrin, Pauly, Martje, Lohmann, Katja, Bäumer, Tobias, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Oexle, Konrad, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Kurth, Ingo, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Strehlow, Vincent, Abou Jamra, Rami, Demidov, German, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias
Published in Nature genetics (01.08.2024)
Published in Nature genetics (01.08.2024)
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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Baalmann, Nadja, Spielmann, Malte, Gillessen- Kaesbach, Gabriele, Hanker, Britta, Schmidt, Julia, Lill, Christina M., Hellenbroich, Yorck, Greiten, Bianca, Lohmann, Katja, Trinh, Joanne, Hüning, Irina
Published in European journal of medical genetics (01.07.2023)
Published in European journal of medical genetics (01.07.2023)
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ANKRD11 variants: KBG syndrome and beyond
Parenti, Ilaria, Mallozzi, Mark B., Hüning, Irina, Gervasini, Cristina, Kuechler, Alma, Agolini, Emanuele, Albrecht, Beate, Baquero‐Montoya, Carolina, Bohring, Axel, Bramswig, Nuria C., Busche, Andreas, Dalski, Andreas, Guo, Yiran, Hanker, Britta, Hellenbroich, Yorck, Horn, Denise, Innes, A. Micheil, Leoni, Chiara, Li, Yun R., Lynch, Sally Ann, Mariani, Milena, Medne, Livija, Mikat, Barbara, Milani, Donatella, Onesimo, Roberta, Ortiz‐Gonzalez, Xilma, Prott, Eva Christina, Reutter, Heiko, Rossier, Eva, Selicorni, Angelo, Wieacker, Peter, Wilkens, Alisha, Wieczorek, Dagmar, Zackai, Elaine H., Zampino, Giuseppe, Zirn, Birgit, Hakonarson, Hakon, Deardorff, Matthew A., Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.
Published in Clinical genetics (01.08.2021)
Published in Clinical genetics (01.08.2021)
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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Guo, Long, Salian, Smrithi, Xue, Jing-yi, Rath, Nicola, Rousseau, Justine, Kim, Hyunyun, Ehresmann, Sophie, Moosa, Shahida, Nakagawa, Norio, Kuroda, Hiroshi, Clayton-Smith, Jill, Wang, Juan, Wang, Zheng, Banka, Siddharth, Jackson, Adam, Zhang, Yan-min, Wei, Zhen-jie, Hüning, Irina, Brunet, Theresa, Ohashi, Hirofumi, Thomas, Molly F., Bupp, Caleb, Miyake, Noriko, Matsumoto, Naomichi, Mendoza-Londono, Roberto, Costain, Gregory, Hahn, Gabriele, Di Donato, Nataliya, Yigit, Gökhan, Yamada, Takahiro, Nishimura, Gen, Ansel, K Mark, Wollnik, Bernd, Hrabě de Angelis, Martin, Mégarbané, André, Rosenfeld, Jill A., Heissmeyer, Vigo, Ikegawa, Shiro, Campeau, Philippe M.
Published in American journal of human genetics (06.07.2023)
Published in American journal of human genetics (06.07.2023)
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WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen, Nina, Krawczyk, Hannah E., Jamra, Rami A., Lin, Sheng‐Jia, Yigit, Gökhan, Hüning, Irina, Polo, Anna M., Vona, Barbara, Huang, Kevin, Schmidt, Julia, Altmüller, Janine, Luppe, Johannes, Platzer, Konrad, Dörgeloh, Beate B., Busche, Andreas, Biskup, Saskia, Mendes, Marisa I., Smith, Desiree E. C., Salomons, Gajja S., Zibat, Arne, Bültmann, Eva, Nürnberg, Peter, Spielmann, Malte, Lemke, Johannes R., Li, Yun, Zenker, Martin, Varshney, Gaurav K., Hillen, Hauke S., Kratz, Christian P., Wollnik, Bernd
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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