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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing
Ardui, Simon, Race, Valerie, Zablotskaya, Alena, Hestand, Matthew S., Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Published in Human mutation (01.03.2017)
Published in Human mutation (01.03.2017)
Get full text
Journal Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Fieremans, Nathalie, Van Esch, Hilde, Holvoet, Maureen, Van Goethem, Gert, Devriendt, Koenraad, Rosello, Monica, Mayo, Sonia, Martinez, Francisco, Jhangiani, Shalini, Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Vermeesch, Joris R., Marynen, Peter, Froyen, Guy
Published in Human mutation (01.08.2016)
Published in Human mutation (01.08.2016)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get more information
Journal Article
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)
Get full text
Journal Article
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
Masset, Heleen, Hestand, Matthew S., Van Esch, Hilde, Kleinfinger, Pascale, Plaisancié, Julie, Afenjar, Alexandra, Molignier, Romain, Schluth-Bolard, Caroline, Sanlaville, Damien, Vermeesch, Joris R.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
Get full text
Journal Article
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)
Get full text
Journal Article
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H, Burke, Katherine B, Khan, Naz, Chandler, Kate E, Cooper, Nicola S, Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
Get full text
Journal Article
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
Vanmarsenille, Lieselot, Giannandrea, Maila, Fieremans, Nathalie, Verbeeck, Jelle, Belet, Stefanie, Raynaud, Martine, Vogels, Annick, Männik, Katrin, Õunap, Katrin, Jacqueline, Vigneron, Briault, Sylvain, Van Esch, Hilde, D'Adamo, Patrizia, Froyen, Guy
Published in Human mutation (01.03.2014)
Published in Human mutation (01.03.2014)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
Belet, Stefanie, Fieremans, Nathalie, Yuan, Xuan, Van Esch, Hilde, Verbeeck, Jelle, Ye, Zhaohui, Cheng, Linzhao, Brodsky, Brett R., Hu, Hao, Kalscheuer, Vera M., Brodsky, Robert A., Froyen, Guy
Published in Human mutation (01.03.2014)
Published in Human mutation (01.03.2014)
Get full text
Journal Article
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)
Get full text
Journal Article
Duplications of 17q12 can cause familial fever-related epilepsy syndromes
Hardies, Katia, Weckhuysen, Sarah, Peeters, Elke, Holmgren, Philip, Van Esch, Hilde, De Jonghe, Peter, Van Paesschen, Wim, Suls, Arvid
Published in Neurology (15.10.2013)
Published in Neurology (15.10.2013)
Get more information
Journal Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera M, Wang, Ruihua, Lemyre, Emmanuelle, Kosińska, Joanna, Stawinski, Piotr, Bal, Jerzy, Hoffman, Dax A, Schwartz, Charles E, Van Maldergem, Lionel, Wang, Tao, Worley, Paul F
Published in Human molecular genetics (15.02.2018)
Published in Human molecular genetics (15.02.2018)
Get full text
Journal Article