Impacts of genomics on the health and social costs of intellectual disabilityBrett Doble, Deborah Schofield, Carey-Anne Evans, Tudor Groza, John S Mattick, Mike Field, Tony Roscioli
24 January 2020
SETD1B-associated neurodevelopmental disorderAlexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES StudySee the full list of authors
16 June 2020
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defectsHala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie KubisSee the full list of authors
3 February 2020
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutationsHildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom, Göran Jönsson
5 October 2018
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesiaSylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois PaponSee the full list of authors
26 November 2019
NEK11 as a candidate high-penetrance melanoma susceptibility geneEirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis
8 November 2019
Open questions on the nature of Parkinson’s disease: from triggers to spreading pathologyLei Mou, Wei Ding, Pedro Fernandez-Funez
4 September 2019
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic statusGeorge J Burghel, Unzela Khan, Wei-Yu Lin, William Whittaker, Siddharth Banka
23 September 2019
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteriaRosa M Xicola, Shuwei Li, Nicolette Rodriguez, Patrick Reinecke, Rachid Karam, Virginia Speare, Mary Helen Black, Holly LaDuca, Xavier Llor
11 July 2019
Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectivesRicardo Rodriguez-Calvo, Luis Masana
15 March 2019