Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M
Published in Science (American Association for the Advancement of Science) (24.09.2010)
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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Investigating regions of shared genetic variation in attention deficit/hyperactivity disorder and major depressive disorder: a GWAS meta-analysis
Powell, Victoria, Martin, Joanna, Thapar, Anita, Rice, Frances, Anney, Richard J. L.
Published in Scientific reports (01.04.2021)
Published in Scientific reports (01.04.2021)
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Phenotypic effects of genetic variants associated with autism
Rolland, Thomas, Cliquet, Freddy, Anney, Richard J. L., Moreau, Clara, Traut, Nicolas, Mathieu, Alexandre, Huguet, Guillaume, Duan, Jinjie, Warrier, Varun, Portalier, Swan, Dry, Louise, Leblond, Claire S., Douard, Elise, Amsellem, Frédérique, Malesys, Simon, Maruani, Anna, Toro, Roberto, Børglum, Anders D., Grove, Jakob, Baron-Cohen, Simon, Packer, Alan, Chung, Wendy K., Jacquemont, Sébastien, Delorme, Richard, Bourgeron, Thomas
Published in Nature Medicine (01.07.2023)
Published in Nature Medicine (01.07.2023)
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Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank
Chambers, Tom, Escott-Price, Valentina, Legge, Sophie, Baker, Emily, Singh, Krish D., Walters, James T. R., Caseras, Xavier, Anney, Richard J. L.
Published in Molecular psychiatry (01.04.2022)
Published in Molecular psychiatry (01.04.2022)
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Molecular epidemiology of Staphylococcus aureus strains isolated from inpatients with infected diabetic foot ulcers in an Algerian University Hospital
Djahmi, N., Messad, N., Nedjai, S., Moussaoui, A., Mazouz, D., Richard, J.-L., Sotto, A., Lavigne, J.-P.
Published in Clinical microbiology and infection (01.09.2013)
Published in Clinical microbiology and infection (01.09.2013)
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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants
Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M
Published in The American journal of psychiatry (01.01.2021)
Published in The American journal of psychiatry (01.01.2021)
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High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression
Hamshere, Marian L., Langley, Kate, Martin, Joanna, Agha, Sharifah Shameem, Stergiakouli, Evangelia, Anney, Richard J.L., Buitelaar, Jan, Faraone, Stephen V., Lesch, Klaus-Peter, Neale, Benjamin M., Franke, Barbara, Sonuga-Barke, Edmund, Asherson, Philip, Merwood, Andrew, Kuntsi, Jonna, Medland, Sarah E., Ripke, Stephan, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Roeyers, Herbert, Biederman, Joseph, Doyle, Alysa E., Hakonarson, Hakon, Rothenberger, Aribert, Banaschewski, Tobias, Oades, Robert D., McGough, James J., Kent, Lindsey, Williams, Nigel, Owen, Michael J., Holmans, Peter, O’Donovan, Michael C., Thapar, Anita
Published in The American journal of psychiatry (01.08.2013)
Published in The American journal of psychiatry (01.08.2013)
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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
Snider, Lauren, Geng, Linda N, Lemmers, Richard J L F, Kyba, Michael, Ware, Carol B, Nelson, Angelique M, Tawil, Rabi, Filippova, Galina N, van der Maarel, Silvère M, Tapscott, Stephen J, Miller, Daniel G
Published in PLoS genetics (28.10.2010)
Published in PLoS genetics (28.10.2010)
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Serum procalcitonin and C-reactive protein concentrations to distinguish mildly infected from non-infected diabetic foot ulcers: a pilot study
Jeandrot, A, Richard, J.-L, Combescure, C, Jourdan, N, Finge, S, Rodier, M, Corbeau, P, Sotto, A, Lavigne, J.-P
Published in Diabetologia (01.02.2008)
Published in Diabetologia (01.02.2008)
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Autism symptoms in Attention-Deficit/Hyperactivity Disorder: A Familial trait which Correlates with Conduct, Oppositional Defiant, Language and Motor Disorders
Mulligan, Aisling, Anney, Richard J. L., O’Regan, Myra, Chen, Wai, Butler, Louise, Fitzgerald, Michael, Buitelaar, Jan, Steinhausen, Hans-Christoph, Rothenberger, Aribert, Minderaa, Ruud, Nijmeijer, Judith, Hoekstra, Pieter J., Oades, Robert D., Roeyers, Herbert, Buschgens, Cathelijne, Christiansen, Hanna, Franke, Barbara, Gabriels, Isabel, Hartman, Catharina, Kuntsi, Jonna, Marco, Rafaela, Meidad, Sheera, Mueller, Ueli, Psychogiou, Lamprini, Rommelse, Nanda, Thompson, Margaret, Uebel, Henrik, Banaschewski, Tobias, Ebstein, Richard, Eisenberg, Jacques, Manor, Iris, Miranda, Ana, Mulas, Fernando, Sergeant, Joseph, Sonuga-Barke, Edmund, Asherson, Phil, Faraone, Stephen V., Gill, Michael
Published in Journal of autism and developmental disorders (01.02.2009)
Published in Journal of autism and developmental disorders (01.02.2009)
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Management of patients hospitalized for diabetic foot infection: Results of the French OPIDIA study
Richard, J.-L, Lavigne, J.-P, Got, I, Hartemann, A, Malgrange, D, Tsirtsikolou, D, Baleydier, A, Senneville, E
Published in Diabetes & metabolism (01.06.2011)
Published in Diabetes & metabolism (01.06.2011)
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Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Lemmers, Richard J L F, van der Vliet, Patrick J, Blatnik, Ana, Balog, Judit, Zidar, Janez, Henderson, Don, Goselink, Rianne, Tapscott, Stephen J, Voermans, Nicol C, Tawil, Rabi, Padberg, George W A M, van Engelen, Baziel GM, van der Maarel, Silvère M
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
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Journal Article
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Vishnu, Venugopalan Y, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J, Kretkiewicz, Marcelina M, Macken, William L, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M, Bhatia, Rohit, Wilson, Lindsay A, Houlden, Henry, Hanna, Michael G, Bugiardini, Enrico, van der Maarel, Silvère M, Srivastava, M V Padma
Published in European journal of human genetics : EJHG (25.04.2024)
Published in European journal of human genetics : EJHG (25.04.2024)
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Journal Article
Painful diabetic neuropathy: Diagnosis and management
Hartemann, A, Attal, N, Bouhassira, D, Dumont, I, Gin, H, Jeanne, S, Said, G, Richard, J.-L
Published in Diabetes & metabolism (01.11.2011)
Published in Diabetes & metabolism (01.11.2011)
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Journal Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
Efthymiou, Stephanie, Lemmers, Richard J L F, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
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Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Goossens, Remko, van den Boogaard, Marlinde L, Lemmers, Richard J L F, Balog, Judit, van der Vliet, Patrick J, Willemsen, Iris M, Schouten, Julie, Maggio, Ignazio, van der Stoep, Nienke, Hoeben, Rob C, Tapscott, Stephen J, Geijsen, Niels, Gonçalves, Manuel A F V, Sacconi, Sabrina, Tawil, Rabi, van der Maarel, Silvère M
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
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