KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Published in Journal of medical genetics (01.09.2016)
Published in Journal of medical genetics (01.09.2016)
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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy
Haddad, Dominik M., Vilain, Sven, Vos, Melissa, Esposito, Giovanni, Matta, Samer, Kalscheuer, Vera M., Craessaerts, Katleen, Leyssen, Maarten, Nascimento, Rafaella M.P., Vianna-Morgante, Angela M., De Strooper, Bart, Van Esch, Hilde, Morais, Vanessa A., Verstreken, Patrik
Published in Molecular cell (27.06.2013)
Published in Molecular cell (27.06.2013)
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MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome
Thues, Cedric, Valadas, Jorge S, Deaulmerie, Liesbeth, Geens, Ann, Chouhan, Amit K, Duran-Romaña, Ramon, Schymkowitz, Joost, Rousseau, Frederic, Bartusel, Michaela, Rehimi, Rizwan, Rada-Iglesias, Alvaro, Verstreken, Patrik, Van Esch, Hilde
Published in Scientific reports (02.03.2021)
Published in Scientific reports (02.03.2021)
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R
Published in Frontiers in genetics (16.05.2018)
Published in Frontiers in genetics (16.05.2018)
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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen
Published in American journal of human genetics (01.02.2005)
Published in American journal of human genetics (01.02.2005)
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Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the RNA-binding protein quaking
Zhang, Huayu, Prins, Jurriën, Vreeken, Dianne, Florijn, Barend W, de Bruin, Ruben G, van Hengel, Oscar RJ, van Essen, Mieke F, Duijs, Jacques MGJ, Van Esch, Hilde, van der Veer, Eric P, van Zonneveld, Anton Jan, Gils, Janine M van
Published in Innate immunity (London, England) (01.02.2021)
Published in Innate immunity (London, England) (01.02.2021)
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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
FROYEN, Guy, BAUTERS, Marijke, MARYNEN, Peter, GECZ, Jozef, TURNER, Gillian, BOYLE, Jackie, VAN ESCH, Hilde, GOVAERTS, Karen, VAN BOKHOVEN, Hans, ROPERS, Hans-Hilger, MORAINE, Claude, CHELLY, Jamel, FRYNS, Jean-Pierre
Published in Human genetics (01.06.2007)
Published in Human genetics (01.06.2007)
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Challenges in molecular diagnosis of X-linked Intellectual disability
De Luca, Chiara, Race, Valérie, Keldermans, Liesbeth, Bauters, Marijke, Van Esch, Hilde
Published in British medical bulletin (15.05.2020)
Published in British medical bulletin (15.05.2020)
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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Dühring, Schorge, Stephanie, Baez‐Nieto, David, Wang, Hao‐Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Møller, Rikke S., Lal, Dennis
Published in Epilepsia (Copenhagen) (01.03.2020)
Published in Epilepsia (Copenhagen) (01.03.2020)
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Novel CASK mutations in cases with syndromic microcephaly
Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Esch, Hilde, Vermeesch, Joris R.
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing
Brison, Nathalie, Neofytou, Maria, Dehaspe, Luc, Bayindir, Baran, Van Den Bogaert, Kris, Dardour, Leila, Peeters, Hilde, Van Esch, Hilde, Van Buggenhout, Griet, Vogels, Annick, Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R.
Published in Prenatal diagnosis (01.03.2018)
Published in Prenatal diagnosis (01.03.2018)
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Navigating the uncertainties of next‐generation sequencing in the genetics clinic
Kuiper, Janneke M. L., Borry, Pascal, Vears, Danya F., Esch, Hilde, Hoyweghen, Ine
Published in Sociology of health & illness (01.03.2023)
Published in Sociology of health & illness (01.03.2023)
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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A M, Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M
Published in Neurology (07.06.2016)
Published in Neurology (07.06.2016)
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Konrad, Enrico D H, Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L, Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E, Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H, Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M, Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R, Ellingson, Marissa S, Ferber, Matthew J, Dhamija, Radhika, Klee, Eric W, McEntagart, Meriel, Lichtenbelt, Klaske D, Kenney, Amy, Vergano, Samantha A, Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J, Martin, Richard J, Jongmans, Marjolijn C J, Chang, Vivian Y, Martinez-Agosto, Julian A, Kuismin, Outi, Kurki, Mitja I, Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J, Johnson, Diana S, Venborg Pedersen, Katja, Laulund, Lone W, Lynch, Sally A, Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H, Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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Towards a 21st-century roadmap for biomedical research and drug discovery: consensus report and recommendations
Langley, Gillian R., Adcock, Ian M., Busquet, François, Crofton, Kevin M., Csernok, Elena, Giese, Christoph, Heinonen, Tuula, Herrmann, Kathrin, Hofmann-Apitius, Martin, Landesmann, Brigitte, Marshall, Lindsay J., McIvor, Emily, Muotri, Alysson R., Noor, Fozia, Schutte, Katrin, Seidle, Troy, van de Stolpe, Anja, Van Esch, Hilde, Willett, Catherine, Woszczek, Grzegorz
Published in Drug discovery today (01.02.2017)
Published in Drug discovery today (01.02.2017)
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E, Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P, Baple, Emma L, Dean, John, Fong, Chin-To, Hickey, Scott E, Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F, Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P, Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M, Smith, Janice L, Shaw, Chad, Crosby, Andrew H, Eng, Christine, Yang, Yaping, Lupski, James R, Xiao, Rui, Liu, Pengfei
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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