GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays by Mathieu Clément-Ziza, Yehuda Brody, Arnold Munnich, Stanislas Lyonnet, Claude Besmond

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Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus by Judith Rixt Brouwer, Aline Huguet, Annie Nicole, Arnold Munnich, Geneviève Gourdon

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Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review by Álvaro Darriba, Arnold Munnich, Pedro Cardoso-Leite, Benoît Funalot, Benoît Funalot, Benoît Funalot, Florian Waszak

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Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies by Sylvia Rose, Aurélien Trimouille, Didier Lacombe, Edoardo Malfatti, Zahra Assouline, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Agnès Rötig, Giulia Barcia

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Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. by Aline Huguet, Fadia Medja, Annie Nicole, Alban Vignaud, Céline Guiraud-Dogan, Arnaud Ferry, Valérie Decostre, Jean-Yves Hogrel, Friedrich Metzger, Andreas Hoeflich, Martin Baraibar, Mário Gomes-Pereira, Jack Puymirat, Guillaume Bassez, Denis Furling, Arnold Munnich, Geneviève Gourdon

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Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. by Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology by Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

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Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. by Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

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