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All Publications

Displaying 19 results.
    • Journal article
    The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
    Maystadt, Isabelle[UCL] Rezsohazy, René[UCL] Barkats, Martine Duque, Sandra Vannuffel, Pascal Remacle, Sophie[UCL] Lambert, Barbara[UCL] Najimi, Mustapha[UCL] Sokal, Etienne[UCL] Munnich, Arnold Viollet, Louis Dumoulin, Christine[UCL] (2007) American Journal of Human Genetics — Vol. 81, no. 1, p. 67-76 (2007)
    • Journal article
    Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
    Moortgat, Stéphanie Lederer, Damien Deprez, Marie Buzatu, Marga Clapuyt, Philippe[UCL] Boulanger, Sébastien Benoit, Valérie Mary, Sandrine Guichet, Agnès Ziegler, Alban Colin, Estelle Bonneau, Dominique Maystadt, Isabelle (2018) European Journal of Medical Genetics — Vol. 61, no. 8, p. 442-450 (2018)
    • Journal article
    Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.
    Battisti, Gladys Wintjens, René Decottignies, Anabelle[UCL] Merhi, Ahmad Fervaille, Caroline[UCL] Sokal, Etienne[UCL] Karadurmus, Deniz Benoit, Valerie Claessens, Anick Martinet, Jean-Paul[UCL] Martiat, Benoît Kinzinger, Philippe Maystadt, Isabelle (2021) European journal of medical genetics — Vol. 64, no. 12, p. 104333 [1-12] (2021)
    • Journal article
    Natural history of KBG syndrome in a large European cohort.
    Loberti, Lorenzo Bruno, Lucia Pia Granata, Stefania Doddato, Gabriella Resciniti, Sara Fava, Francesca Carullo, Michele Rahikkala, Elisa Jouret, Guillaume Menke, Leonie A Lederer, Damien Vrielynck, Pascal[UCL] Ryba, Lukáš Brunetti-Pierri, Nicola Lasa-Aranzasti, Amaia Cueto-González, Anna Maria Trujillano, Laura Valenzuela, Irene Tizzano, Eduardo F Spinelli, Alessandro Mauro Bruno, Irene Currò, Aurora Stanzial, Franco Benedicenti, Francesco Lopergolo, Diego Santorelli, Filippo Maria Aristidou, Constantia Tanteles, George A Maystadt, Isabelle Tkemaladze, Tinatin Reimand, Tiia Lokke, Helen Õunap, Katrin Haanpää, Maria K Holubová, Andrea Zoubková, Veronika Schwarz, Martin Žordania, Riina Muru, Kai Roht, Laura Tihveräinen, Annika Teek, Rita Thomson, Ulvi Atallah, Isis Superti-Furga, Andrea Buoni, Sabrina Canitano, Roberto Scandurra, Valeria Rossetti, Annalisa Grosso, Salvatore Battini, Roberta Baldassarri, Margherita Mencarelli, Maria Antonietta Rizzo, Caterina Lo Bruttini, Mirella Mari, Francesca Ariani, Francesca Renieri, Alessandra Pinto, Anna Maria (2022) Human molecular genetics — Vol. 31, no.24, p. 4131-4142 (2022)
    • Dissertation
    Genetic aspects of SMN1-unrelated autosomal recessive spinal muscular atrophies
    Maystadt, Isabelle (2008)
    • Journal article
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
    Moortgat, Stéphanie Berland, Siren Aukrust, Ingvild Maystadt, Isabelle Baker, Laura Benoit, Valerie Caro-Llopis, Alfonso Cooper, Nicola S Debray, François-Guillaume Faivre, Laurence Gardeitchik, Thatjana Haukanes, Bjørn I Houge, Gunnar Kivuva, Emma Martinez, Francisco Mehta, Sarju G Nassogne, Marie-Cécile[UCL] Powell-Hamilton, Nina Pfundt, Rolph Rosello, Monica Prescott, Trine Vasudevan, Pradeep van Loon, Barbara Verellen-Dumoulin, Christine Verloes, Alain Lippe, Charlotte von der Wakeling, Emma Wilkie, Andrew O M Wilson, Louise Yuen, Amy Study, Ddd Low, Karen J Newbury-Ecob, Ruth A (2018) European Journal of Human Genetics — Vol. 26, no. 1, p. 64-74 (2018)
    • Journal article
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Journal article
    IGF1 haploinsufficiency in children with short stature: a case series.
    Staels, Willem Alev, Nuriya Maystadt, Isabelle Chivu, Olimpia De Schepper, Jean Heinrichs, Claudine Beckers, Dominique[UCL] (2021) European journal of endocrinology — Vol. 185, no. 2, p. 323-332 (2021)
    • Journal article
    Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child
    Paquay, Stéphanie[UCL] Benoit, Valérie Wetzburger, Catherine Cordonnier, Monique Meire, Françoise Charon, Anne Roland, Dominique Coster, Rudy Van Nassogne, Marie-Cécile[UCL] Maystadt, Isabelle (2014) Journal of Child Neurology — Vol. 29, no. 8, p. NP18-NP23 (2014)
    • Journal article
    Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome
    Lederer, Damien Grisart, Bernard Digilio, Maria Cristina Benoit, Valérie Crespin, Marianne Ghariani, Sophie Claire Maystadt, Isabelle Dallapiccola, Bruno Dumoulin, Christine[UCL] (2012) American Journal of Human Genetics — Vol. 90, no. 1, p. 119-124 (2012)
    • Speech
    Uncommon Leber "plus" disease associated with mitochondrial m.11778G>A mutation in a premature child
    Paquay, Stéphanie[UCL] Benoit, Valérie Wetzburger, Catherine Cordonnier, Monique Meire, Françoise Charon, Anne Roland, Dominique Van Coster, Rudy Nassogne, Marie-Cécile[UCL] Maystadt, Isabelle (2013) Belgian Society of Pediatric Neurology — Luxembourg
    • Journal article
    Further delineation of the KAT6B molecular and phenotypic spectrum
    Gannon, Tamsin Perveen, Rahat Schlecht, Hélene Ramsden, Simon Anderson, Beverley Kerr, Bronwyn Day, Ruth Banka, Siddharth Suri, Mohnish Berland, Siren Gabbett, Michael Ma, Alan Lyonnet, Stan Cormier-Daire, Valerie Yilmaz, Rüstem Borck, Guntram Wieczorek, Dagmar Anderlid, Britt-Marie Smithson, Sarah Vogt, Julie Moore-Barton, Heather Simsek-Kiper, Pelin Ozlem Maystadt, Isabelle Destrée, Anne Bucher, Jessica Angle, Brad Mohammed, Shehla Wakeling, Emma Price, Sue Singer, Amihood Sznajer, Yves[UCL] Toutain, Annick Haye, Damien Newbury-Ecob, Ruth Fradin, Melanie McGaughran, Julie Tuysuz, Beyhan Tein, Mark Bouman, Katelijne Dabir, Tabib Van den Ende, Jenneke Luk, Ho Ming Pilz, Daniela T Eason, Jacqueline Davies, Sally Reardon, Willie Garavelli, Livia Zuffardi, Orsetta Devriendt, Koen Armstrong, Ruth Johnson, Diana Doco-Fenzy, Martine Bijlsma, Emilia Unger, Sheila Veenstra-Knol, Hermine E Kohlhase, Jürgen Lo, Ivan F M Smith, Janine Clayton-Smith, Jill (2015) European Journal of Human Genetics — Vol. 23, no. 9, p. 1165-1170 (2015)
    • Journal article
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
    Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile[UCL] Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane (2016) Journal of Medical Genetics — Vol. 53, no. 12, p. 820-827 (2016)
    • Journal article
    Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education?
    Wieërs, Grégoire Absil, Simon Maystadt, Isabelle Nicaise, Charles Modrie, Pauline[UCL] Sibille, François-Xavier[UCL] Melly, Ludovic[UCL] Dogné, Jean-Michel (2024) Frontiers in medicine — Vol. 11, p. 1438636 (2024)
    • Journal article
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
    Szafranski, Przemyslaw Gambin, Tomasz Dharmadhikari, Avinash V Akdemir, Kadir Caner Jhangiani, Shalini N Schuette, Jennifer Godiwala, Nihal Yatsenko, Svetlana A Sebastian, Jessica Madan-Khetarpal, Suneeta Surti, Urvashi Abellar, Rosanna G Bateman, David A Wilson, Ashley L Markham, Melinda H Slamon, Jill Santos-Simarro, Fernando Palomares, María Nevado, Julián Lapunzina, Pablo Chung, Brian Hon-Yin Wong, Wai-Lap Chu, Yoyo Wing Yiu Mok, Gary Tsz Kin Kerem, Eitan Reiter, Joel Ambalavanan, Namasivayam Anderson, Scott A Kelly, David R Shieh, Joseph Rosenthal, Taryn C Scheible, Kristin Steiner, Laurie Iqbal, M Anwar McKinnon, Margaret L Hamilton, Sara Jane Schlade-Bartusiak, Kamilla English, Dawn Hendson, Glenda Roeder, Elizabeth R DeNapoli, Thomas S Littlejohn, Rebecca Okashah Wolff, Daynna J Wagner, Carol L Yeung, Alison Francis, David Fiorino, Elizabeth K Edelman, Morris Fox, Joyce Hayes, Denise A Janssens, Sandra De Baere, Elfride Menten, Björn Loccufier, Anne Vanwalleghem, Lieve Moerman, Philippe Sznajer, Yves[UCL] Lay, Amy S Kussmann, Jennifer L Chawla, Jasneek Payton, Diane J Phillips, Gael E Brosens, Erwin Tibboel, Dick de Klein, Annelies Maystadt, Isabelle Fisher, Richard Sebire, Neil Male, Alison Chopra, Maya Pinner, Jason Malcolm, Girvan Peters, Gregory Arbuckle, Susan Lees, Melissa Mead, Zoe Quarrell, Oliver Sayers, Richard Owens, Martina Shaw-Smith, Charles Lioy, Janet McKay, Eileen de Leeuw, Nicole Feenstra, Ilse Spruijt, Liesbeth Elmslie, Frances Thiruchelvam, Timothy Bacino, Carlos A Langston, Claire Lupski, James R Sen, Partha Popek, Edwina Stankiewicz, Paweł (2016) Human Genetics — Vol. 135, no.5, p. 569-586 (2016)
    • Journal article
    Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
    Westra, Dineke Schouten, Meyke I. Stunnenberg, Bas C. Kusters, Benno Saris, Christiaan G.J. Erasmus, Corrie E. van Engelen, Baziel G. Bulk, Saskia Verschuuren-Bemelmans, Corien C. Gerkes, E.H. de Geus, Christa van der Zwaag, P.A. Chan, Sophelia Chung, Brian Barge-Schaapveld, Daniela Q.C.M. Kriek, Marjolein Sznajer, Yves[UCL] van Spaendonck-Zwarts, Karin van der Kooi, Anneke J. Krause, Amanda Schönewolf-Greulich, Bitten de Die-Smulders, Christine Sallevelt, Suzanne C.E.H. Krapels, Ingrid P.C. Rasmussen, Magnhild Maystadt, Isabelle Kievit, Anneke J.A. Witting, Nanna Pennings, Maartje Meijer, Rowdy Gillissen, Christian Kamsteeg, Erik-Jan Voermans, Nicol C. (2019) Journal of Neuromuscular Diseases — Vol. 6, no.2, p. 241-258 (2019)
    • Journal article
    Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat, Stéphanie Désir, Julie Benoit, Valérie Boulanger, Sébastien Pendeville, Hélène Nassogne, Marie-Cécile[UCL] Lederer, Damien Maystadt, Isabelle (2016) American Journal of Medical Genetics. Part A — Vol. 170, no.11, p. 2927-2933 (2016)
    • Journal article
    Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
    Balbeur, Samuel Grisart, Bernard Parmentier, Benoit Sartenaer, Daniel Leonard, Pierre-Emmanuel Ullmann, Urielle Boulanger, Sébastien Leroy, Luc Ngendahayo, Placide Lungu-Silviu, Constantin Lysy, Philippe Maystadt, Isabelle (2016) Clinical case reports — Vol. 4, no.3, p. 265-271 (2016)
    • Journal article
    Natural history of adults with KBG syndrome: A physician-reported experience.
    Bayat, Allan Grimes, Hannah de Boer, Elke Herlin, Morten Krogh Dahl, Rebekka Staal Lund, Ida Charlotte Bay Bayat, Michael Bolund, Anneli Clea Skjelmose Gjerulfsen, Cathrine Elisabeth Gregersen, Pernille Axél Zilmer, Monica Juhl, Stefan Cebula, Katarzyna Rahikkala, Elisa Maystadt, Isabelle Peron, Angela Vignoli, Aglaia Alfano, Rosa Maria Stanzial, Franco Benedicenti, Francesco Currò, Aurora Luk, Ho-Ming Jouret, Guillaume Zurita, Ella Heuft, Lara Schnabel, Franziska Busche, Andreas Veenstra-Knol, Hermine Elisabeth Tkemaladze, Tinatin Vrielynck, Pascal[UCL] Lederer, Damien Platzer, Konrad Ockeloen, Charlotte Wilhelmina Goel, Himanshu Low, Karen Jaqueline (2024) Genetics in medicine — Vol. 26, no.8, p. 101170 (2024)