1,104 results on '"Haack, Tobias B"'
Search Results
2. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
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Maver, Aleš, Lohmann, Katja, Borovečki, Fran, Wolstenholme, Nicola, Taylor, Rachel L., Spielmann, Malte, Haack, Tobias B., Gerberding, Matthias, Peterlin, Borut, and Graessner, Holm
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- 2024
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3. Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
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Gippert, Sebastian, Wagner, Matias, Brunet, Theresa, Berruti, Riccardo, Brugger, Melanie, Schwaibold, Eva M. C., Haack, Tobias B., Hoffmann, Georg F., Bettendorf, Markus, and Choukair, Daniela
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- 2024
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4. A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
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Figueroa, Karla P., Gross, Caspar, Buena-Atienza, Elena, Paul, Sharan, Gandelman, Mandi, Kakar, Naseebullah, Sturm, Marc, Casadei, Nicolas, Admard, Jakob, Park, Joohyun, Zühlke, Christine, Hellenbroich, Yorck, Pozojevic, Jelena, Balachandran, Saranya, Händler, Kristian, Zittel, Simone, Timmann, Dagmar, Erdlenbruch, Friedrich, Herrmann, Laura, Feindt, Thomas, Zenker, Martin, Klopstock, Thomas, Dufke, Claudia, Scoles, Daniel R., Koeppen, Arnulf, Spielmann, Malte, Riess, Olaf, Ossowski, Stephan, Haack, Tobias B., and Pulst, Stefan M.
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- 2024
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5. Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
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Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, and Depienne, Christel
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- 2024
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6. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
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Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., and McPherson, Peter S.
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- 2024
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7. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target
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Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B., Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, Stefan, and Lingor, Paul
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- 2024
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8. Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
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Bodenbender, Jan-Philipp, Marino, Valerio, Philipp, Julia, Tropitzsch, Anke, Kernstock, Christoph, Stingl, Katarina, Kempf, Melanie, Haack, Tobias B., Zuleger, Theresia, Mazzola, Pascale, Kohl, Susanne, Weisschuh, Nicole, Dell’Orco, Daniele, and Kühlewein, Laura
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- 2024
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9. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
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Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria-Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, and Mariotti, Caterina
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- 2024
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10. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
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Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, and Maroofian, Reza
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- 2024
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11. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
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Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A., Gurnett, Christina A., Jelsig, Anne Marie, Vineke, Susanne H., Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T., Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M., Semina, Elena V., Reuter, Miriam S., Scherer, Stephen W., Iascone, Maria, Weis, Denisa, Fagerberg, Christina R., Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B., Pavlidou, Despoina C., Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R., Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M., Lemke, Johannes R., Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, and Platzer, Konrad
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- 2023
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12. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
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Bilal, Muhammad, Khan, Hammal, Khan, Muhammad Javed, Haack, Tobias B., Buchert, Rebecca, Liaqat, Khurram, Ullah, Kifayat, Ahmed, Sohail, Bharadwaj, Thashi, Acharya, Anushree, Peralta, Susana, Najumuddin, Ali, Hamid, Hasni, Muhammad Sharif, Schrauwen, Isabelle, Ullah, Asmat, Ahmad, Wasim, and Leal, Suzanne M.
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- 2023
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13. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
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Schroeder, Christopher, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B., Mau-Holzmann, Ulrike A., Dufke, Andreas, Riess, Olaf, and Brecht, Ines B.
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- 2023
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14. Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
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Tomforde, Maike, Steinbach, Meike, Haack, Tobias B., and Kuhlenbäumer, Gregor
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- 2023
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15. Episignature analysis of moderate effects and mosaics
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Oexle, Konrad, Zech, Michael, Stühn, Lara G., Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M., Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B., Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, and Mirza-Schreiber, Nazanin
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- 2023
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16. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
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Gustavsson, Emil K, Follett, Jordan, Trinh, Joanne, Barodia, Sandeep K, Real, Raquel, Liu, Zhiyong, Grant-Peters, Melissa, Fox, Jesse D, Appel-Cresswell, Silke, Stoessl, A Jon, Rajput, Alex, Rajput, Ali H, Auer, Roland, Tilney, Russel, Sturm, Marc, Haack, Tobias B, Lesage, Suzanne, Tesson, Christelle, Brice, Alexis, Vilariño-Güell, Carles, Ryten, Mina, Goldberg, Matthew S, West, Andrew B, Hu, Michele T, Morris, Huw R, Sharma, Manu, Gan-Or, Ziv, Samanci, Bedia, Lis, Pawel, Periñan, Maria Teresa, Amouri, Rim, Ben Sassi, Samia, Hentati, Faycel, Tonelli, Francesca, Alessi, Dario R, and Farrer, Matthew J
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- 2024
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17. Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
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Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., and Synofzik, Matthis
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- 2023
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18. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
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Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., and Boone, Philip M.
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- 2024
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19. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
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Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, and Schöls, Ludger
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Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Genetics ,Human Genome ,Brain Disorders ,Congenital Structural Anomalies ,Pediatric ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Animals ,Cell Movement ,Child ,Child ,Preschool ,Drosophila ,Female ,Fibroblasts ,Humans ,Infant ,Loss of Function Mutation ,Loss of Heterozygosity ,Male ,Mice ,Mice ,Knockout ,Neoplasm Proteins ,Neurodevelopmental Disorders ,Pedigree ,Proteome ,Young Adult ,Care4Rare Canada Consortium ,Genomics England Research Consortium ,BCAS3 ,UAS-Gal4 ,fibroblasts ,global developmental delay ,microcephaly ,neurodevelopmental disorder ,proteomics ,pyramidal tract involvement ,thin corpus callosum ,transcriptomics ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. The human phenotype is less severe compared with the Bcas3 knockout mouse model and cannot be explained by angiogenic defects alone. Consistent with being loss-of-function alleles, we observed absence of BCAS3 in probands' primary fibroblasts. By comparing the transcriptomic and proteomic data based on probands' fibroblasts with those of the knockout mouse model, we identified similar dysregulated pathways resulting from over-representation analysis, while the dysregulation of some proposed key interactors could not be confirmed. Together with the results from a tissue-specific Drosophila loss-of-function model, we demonstrate a vital role for BCAS3 in neural tissue development.
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- 2021
20. Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis
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Eiseler, Katharina, Neppl, Lea, Schmidt, Andreas W., Rauscher, Beate, Ewers, Maren, Masson, Emmanuelle, Chen, Jian-Min, Férec, Claude, Rebours, Vinciane, Grammatikopoulos, Tassos, Foskett, Pierre, Greenhalf, William, Halloran, Christopher, Neoptolemos, John, Haack, Tobias B., Ossowski, Stephan, Sturm, Marc, Rosendahl, Jonas, Laumen, Helmut, and Witt, Heiko
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- 2023
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21. A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
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Scorrano, Giovanna, D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Buchert, Rebecca, Kotzaeridou, Urania, Iapadre, Giulia, Farello, Giovanni, Iacomino, Michele, Dono, Fedele, Di Francesco, Ludovica, Fiorile, Maria Francesca, La Bella, Saverio, Corsello, Antonio, Calì, Elisa, Di Rosa, Gabriella, Gitto, Eloisa, Verrotti, Alberto, Fortuna, Sara, Soler, Miguel A., Chiarelli, Francesco, Oehl-Jaschkowitz, Barbara, Haack, Tobias B., Zara, Federico, Striano, Pasquale, and Salpietro, Vincenzo
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- 2023
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22. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
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Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, and Kalscheuer, Vera M.
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- 2023
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23. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
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Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine, Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin, Sinsheimer, Janet, Sisco, Kathy, Smith, Edward, Smith, Kevin, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca, Stergachis, Andrew, Stoler, Joan, Sullivan, Kathleen, Sullivan, Jennifer, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Niggl, Eva, Bouman, Arjan, Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, and van Esbroeck, Annelot C.M.
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- 2023
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24. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
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- 2023
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25. Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
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Roggia, Cristiana, Armeanu-Ebinger, Sorin, Gschwind, Axel, Seibel-Kelemen, Olga, Hertler, Sonja, Faust, Ulrike, Liebmann, Alexandra, Haack, Tobias B., Neumann, Manuela, Bonzheim, Irina, Forschner, Andrea, Kopp, Hans-Georg, Herster, Franziska, Hartkopf, Andreas, Bitzer, Michael, Malek, Nisar P., Brecht, Ines B., Ruhm, Kristina, Möller, Yvonne, Löwenheim, Hubert, Ossowski, Stephan, Rieß, Olaf H., and Schroeder, Christopher
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- 2023
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26. Characterization of cognitive impairment in adult polyglucosan body disease
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Zebhauser, Paul Theo, Cordts, Isabell, Hengel, Holger, Haslinger, Bernhard, Lingor, Paul, Akman, Hasan Orhan, Haack, Tobias B., and Deschauer, Marcus
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- 2022
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27. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
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Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., and Krawitz, Peter M.
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- 2022
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28. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
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Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., and Taylor, J. Paul
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- 2022
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29. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
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Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, Jr, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, and Klee, Eric W.
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- 2022
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30. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
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Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., and Arno, Gavin
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- 2022
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31. Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia
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Petry-Schmelzer, Jan Niklas, Park, Joohyun, Haack, Tobias B., Visser-Vandewalle, Veerle, Barbe, Michael T., and Wunderlich, Gilbert
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- 2022
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32. De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
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Bertrand, Miriam, Shah, Gulalai, Pedersen, Brent S., Schulz, Alexander, Weise, Anja, Liehr, Thomas, Huppke, Peter, DiTroia, Stephanie, Quinlan, Aaron R., Haack, Tobias B., and Husain, Ralf A.
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- 2024
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33. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
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Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Jr., Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina, Yaldiz, Burcu, Laurie, Steve, de Reuver, Rick, Kwint, Michael, Pfundt, Rolph, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., and Vissers, Lisenka E.L.M.
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- 2022
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34. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing
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Dominik, Natalia, primary, Efthymiou, Stephanie, additional, Record, Christopher J, additional, Miao, Xinyu, additional, Lin, Renee, additional, Parmar, Jevin, additional, Scardamaglia, Annarita, additional, Maroofian, Reza, additional, Aughey, Gabriel, additional, Wilson, Abigail, additional, Lowe, Simon, additional, Curro, Riccardo, additional, Schnekenberg, Ricardo P, additional, Alavi, Shahryar, additional, Leclaire, Leif, additional, He, Yi, additional, Zhelchenska, Kristina, additional, Bellaiche, Yohanns, additional, Gaugue, Isabelle, additional, Skorupinska, Mariola, additional, Van de Vondel, Liedewei, additional, Da'as, Sahar, additional, Turchetti, Valentina, additional, Gungor, Serdal, additional, Karimiani, Ehsan Ghayoor, additional, Armirola Ricaurte, Camila, additional, Topaloglu, Haluk, additional, Jordanova, Albena, additional, Zaman, Mashaya, additional, Banu, Selina H, additional, Marques, Wilson, additional, Tomaselli, Pedro Jose, additional, Aynekin, Busra, additional, Cansu, Ali, additional, Per, Huseyin, additional, Gulec, Ayten, additional, Alvi, Javeria Raza, additional, Sultan, Tipu, additional, Khan, Arif, additional, Zifarelli, Giovanni, additional, Ibrahim, Shahnaz, additional, Mancini, Grazia M.S., additional, Motazacker, M. Mahdi, additional, Brusse, Esther, additional, Lupo, Vincenzo, additional, Sevilla, Teresa, additional, Tekgul, Seyma, additional, Palvadeau, Robin, additional, Basak, A Nazli, additional, Baets, Jonathan, additional, Parman, Yesim, additional, Cakar, Arman, additional, Horvath, Rita, additional, Haack, Tobias B, additional, Stahl, Jan-Hendrik, additional, Grundmann-Hauser, Kathrin, additional, Park, Joohyun, additional, Zuchner, Stephan, additional, Laing, Nigel G, additional, Wilson, Lindsay, additional, Rossor, Alexander M., additional, Polke, James, additional, Figueiredo, Fernanda Barbosa, additional, Pessoa, Andre Luiz, additional, Kok, Fernando, additional, Coimbra-Neto, Antonio Rodrigues, additional, Franca, Marcondes C, additional, Jamshidi, Yalda, additional, Ravenscroft, Gianina, additional, Ahmed Hamed, Sherifa, additional, Chung, Wendy K., additional, Osborn, Daniel P, additional, Hanna, Michael, additional, Cortese, Andrea, additional, Jepson, James E C, additional, Reilly, Mary M, additional, Lamarche-Vane, Nathalie, additional, and Houlden, Henry, additional
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- 2024
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35. A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
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Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., and Synofzik, Matthis
- Published
- 2021
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36. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target
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TN groep Pasterkamp, Translational Neuroscience, Brain, Regenerative Medicine and Stem Cells, Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B., Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, Stefan, Lingor, Paul, TN groep Pasterkamp, Translational Neuroscience, Brain, Regenerative Medicine and Stem Cells, Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B., Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, Stefan, and Lingor, Paul
- Published
- 2024
37. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
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Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan, Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, and Barakat, Tahsin Stefan
- Abstract
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1-related disorder which will be useful for counseling of newly identified individuals and their families.
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- 2024
38. DLG4-related synaptopathy: a new rare brain disorder
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Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep
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- 2021
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39. Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
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Mandler, Julia M., Härtl, Johanna, Cordts, Isabell, Sturm, Marc, Hedderich, Dennis M., Bafligil, Cemsel, Baki, Enayatullah, Becker, Benedikt, Machetanz, Gerrit, Haack, Tobias B., Berthele, Achim, Hemmer, Bernhard, and Deschauer, Marcus
- Subjects
MULTIPLE sclerosis ,GENETIC testing ,FAMILY history (Medicine) ,DIFFERENTIAL diagnosis ,LEUKOENCEPHALOPATHIES - Abstract
Background: Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective: We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS according to the McDonald criteria thus uncovering them as being misdiagnosed. Methods: We performed whole exome sequencing in a cohort of 278 patients with MS, clinically or radiologically isolated syndrome without cerebrospinal fluid-specific oligoclonal bands (CSF-OCBs) (n = 228), a positive family history of MS (n = 44), or both (n = 6), thereby focusing on individuals potentially more likely to have underlying monogenic conditions mimicking MS. We prioritized 495 genes associated with monogenic diseases sharing features with MS. Results: A disease-causing variant in NOTCH3 was identified in one patient without CSF-OCBs, no spinal lesions, with non-response to immunotherapy, and a family history of dementia, thereby converting the diagnosis to cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Moreover, 18 patients (6.5% of total) carried variants of unclear significance. Conclusion: Monogenic diseases being misdiagnosed as MS seem rare in patients diagnosed with MS according to the McDonald criteria, even in CSF-OCB negative cases. The detected pathogenic NOTCH3 variant emphasizes CADASIL as a rare differential diagnosis and highlights the relevance of genetic testing in selected MS cases with atypical presentations. [ABSTRACT FROM AUTHOR]
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- 2024
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40. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
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Distelmaier, Felix, Sezer, Abdullah, Helm, Christina, Waldmüller, Stephan, Seibt, Annette, Gangfuß, Andrea, Kölbel, Heike, Schara-Schmidt, Ulrike, Yuksel, Deniz, Talim, Beril, Mayatepek, Ertan, Nikolin, Stefan, Weis, Joachim, Roos, Andreas, and Haack, Tobias B
- Subjects
LIFE sciences ,BIOLOGICAL transport ,NEMALINE myopathy ,MUSCLE diseases ,IMMOBILIZED proteins ,INBORN errors of metabolism - Abstract
This article summarizes a study that explores the role of the PACSIN3 gene in a rare muscle disorder. The study focuses on two families with children who experience exercise intolerance and early fatigue. Genetic testing reveals that the children have loss-of-function variants in the PACSIN3 gene, which is involved in cytoskeleton organization and intracellular trafficking. The study suggests that PACSIN3 deficiency can cause a myopathy with elevated creatine kinase levels in children. Further research is needed to fully understand the mechanisms and implications of PACSIN3 deficiency in muscle function. [Extracted from the article]
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- 2024
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41. A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
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Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B., Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor
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- 2019
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42. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
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Illsinger, Sabine, Korenke, G. Christoph, Boesch, Sylvia, Nocker, Michael, Karall, Daniela, Nuoffer, Jean M., Laugwitz, Lucia, Mayr, Johannes A., Scholl-Bürgi, Sabine, Freisinger, Peter, Kowald, Tobias, Kölker, Stefan, Prokisch, Holger, and Haack, Tobias B.
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- 2020
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43. Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
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Laugwitz, Lucia, Buchert, Rebecca, Groeschel, Samuel, Riess, Angelika, Grimmel, Mona, Beck-Wödl, Stefanie, Sturm, Marc, Gohla, Georg, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, and Haack, Tobias B.
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- 2020
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44. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
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Park, Joohyun, primary, Sturm, Marc, additional, Seibel-Kelemen, Olga, additional, Ossowski, Stephan, additional, and Haack, Tobias B., additional
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- 2024
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45. A pathogenic variant in RAB32 causes autosomal dominant Parkinsons disease and activates LRRK2 kinase
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Gustavsson, Emil K, primary, Follett, Jordan, additional, Trinh, Joanne, additional, Barodia, Sandeep K, additional, Real, Raquel, additional, Liu, Zhiyong, additional, Grant-Peters, Melissa, additional, Fox, Jesse D, additional, Appel-Cresswell, Silke, additional, Stoessl, Jon A, additional, Rajput, Alex, additional, Rajput, Ali H, additional, Auer, Roland, additional, Tilney, Russel, additional, Sturm, Marc, additional, Haack, Tobias B, additional, Lesage, Suzanne, additional, Tesson, Christelle, additional, Brice, Alexis, additional, Vilarino-Gueell, Carles, additional, Ryten, Mina, additional, Goldberg, Matthew S, additional, West, Andrew B, additional, Hu, Michele T, additional, Morris, Huw R, additional, Sharma, Manu, additional, Gan-Or, Ziv, additional, Samanci, Bedia, additional, Lis, Pawel, additional, Tocino, Teresa, additional, Amouri, Rim, additional, Ben Sassi, Samia, additional, Hentati, Faycel, additional, Tonelli, Francesca, additional, Alessi, Dario R, additional, and Farrer, Matthew J, additional
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- 2024
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46. Advancing molecular, phenotypic and mechanistic insights ofFGF14pathogenic expansions (SCA27B)
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Mohren, Lars, primary, Erdlenbruch, Friedrich, additional, Leitão, Elsa, additional, Kilpert, Fabian, additional, Hönes, G. Sebastian, additional, Kaya, Sabine, additional, Schröder, Christopher, additional, Thieme, Andreas, additional, Sturm, Marc, additional, Park, Joohyun, additional, Schlüter, Agatha, additional, Ruiz, Montserrat, additional, Morales de la Prida, Moisés, additional, Casasnovas, Carlos, additional, Becker, Kerstin, additional, Roggenbuck, Ulla, additional, Pechlivanis, Sonali, additional, Kaiser, Frank J., additional, Synofzik, Matthis, additional, Wirth, Thomas, additional, Anheim, Mathieu, additional, Haack, Tobias B., additional, Lockhart, Paul J., additional, Jöckel, Karl-Heinz, additional, Pujol, Aurora, additional, Klebe, Stephan, additional, Timmann, Dagmar, additional, and Depienne, Christel, additional
- Published
- 2024
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47. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
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Albuainain, Fatimah, primary, Shi, Yuwei, additional, Lor-Zade, Sarah, additional, Hüffmeier, Ulrike, additional, Pauly, Melissa, additional, Reis, André, additional, Faivre, Laurence, additional, Maraval, Julien, additional, Bruel, Ange-Line, additional, Them, Frédéric Tran Mau, additional, Haack, Tobias B., additional, Grasshoff, Ute, additional, Horber, Veronka, additional, Schot, Rachel, additional, van Slegtenhorst, Marjon, additional, Wilke, Martina, additional, and Barakat, Tahsin Stefan, additional
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- 2024
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48. A Pathogenic Variant in Rab32 Causes Autosomal Dominant Parkinson's Disease and Activates LRRK2 Kinase
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Gustavsson, Emil K., primary, Follett, Jordan, additional, Trinh, Joanne, additional, Barodia, Sandeep K., additional, Real, Raquel, additional, Liu, Zhiyong, additional, Grant-Peters, Melissa, additional, Fox, Jesse D., additional, Cresswell, Silke, additional, Stoessl, A. Jon, additional, Rajput, Alex, additional, Rajput, Ali H., additional, Auer, Roland, additional, Tilney, Russel, additional, Sturm, Marc, additional, Haack, Tobias B., additional, Lesage, Suzanne, additional, Tesson, Christelle, additional, Brice, Alexis, additional, Vilarino-Guell, Carles, additional, Ryten, Mina, additional, Goldberg, Matthew S., additional, West, Andrew B., additional, Hu, Michele T., additional, Morris, Huw R., additional, Sharma, Manu, additional, Gan-Or, Ziv, additional, Samanci, Bedia, additional, Lis, Pawel, additional, Tocino, Teressa P., additional, Amouri, Rim, additional, Sassi, Samir Ben, additional, Hentati, Faycel, additional, anon, Global Parkinson’s Genetics, additional, Tonelli, Francesca, additional, Alessi, Dario R., additional, and Farrer, Matthew J., additional
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- 2024
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49. Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3
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Iruzubieta, Pablo, primary, Alves, Cesar Augusto P., additional, Al Shamsi, Aisha M., additional, ElGhazali, Gehad, additional, Zaki, Maha, additional, Pinelli, Lorenzo, additional, Lopergolo, Diego, additional, Cho, Bernard P. H., additional, Jolly, Amy, additional, Al Futaisi, Amna, additional, Al-Amrani, Fatema, additional, Galli, Jessica, additional, Fazzi, Elisa Maria, additional, Vulin, Katarina, additional, Barajas-Olmos, Francisco, additional, Hengel, Holger, additional, Aljamal, Bayan Mohammed, additional, Nasr, Vahideh, additional, Assarzadegan, Farhad, additional, Ragno, Michele, additional, Trojano, Luigi, additional, Ojeda, Naomi Meave, additional, Çakar, Arman, additional, Bianchi, Silvia, additional, Pescini, Francesca, additional, Poggesi, Anna, additional, Al Tenalji, Amal, additional, Aziz, Majid, additional, Mohammad, Rahema, additional, Chedrawi, Aziza, additional, De Stefano, Nicola, additional, Zifarelli, Giovanni, additional, Schöls, Ludger, additional, Haack, Tobias B., additional, Rebelo, Adriana, additional, Zuchner, Stephan, additional, Koc, Filiz, additional, Griffiths, Lyn, additional, Orozco, Lorena, additional, Helmes, Karla García, additional, Babaei, Meisam, additional, Bauer, Peter, additional, Jeong, Won Chan, additional, Karimiani, Ehsan Ghayoor, additional, Schmidts, Miriam, additional, Gleeson, Joseph G., additional, Chung, Wendy K., additional, Alkuraya, Fowzan S., additional, Shalbafan, Bita, additional, Markus, Hugh Stephen, additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2024
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50. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
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Husain, Ralf A, primary, Jiao, Xinfu, additional, Hennings, J Christopher, additional, Giesecke, Jan, additional, Palsule, Geeta, additional, Beck-Wödl, Stefanie, additional, Osmanović, Dina, additional, Bjørgo, Kathrine, additional, Mir, Asif, additional, Ilyas, Muhammad, additional, Abbasi, Saad M, additional, Efthymiou, Stephanie, additional, Dominik, Natalia, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Rankin, Julia, additional, Pagnamenta, Alistair T, additional, Nashabat, Marwan, additional, Altwaijri, Waleed, additional, Alfadhel, Majid, additional, Umair, Muhammad, additional, Khouj, Ebtissal, additional, Reardon, William, additional, El-Hattab, Ayman W, additional, Mekki, Mohammed, additional, Houge, Gunnar, additional, Beetz, Christian, additional, Bauer, Peter, additional, Putoux, Audrey, additional, Lesca, Gaetan, additional, Sanlaville, Damien, additional, Alkuraya, Fowzan S, additional, Taylor, Robert W, additional, Mentzel, Hans-Joachim, additional, Hübner, Christian A, additional, Huppke, Peter, additional, Hart, Ronald P, additional, Haack, Tobias B, additional, Kiledjian, Megerditch, additional, and Rubio, Ignacio, additional
- Published
- 2023
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