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 Kubis
See the full list of authors3 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 Papon
See the full list of authors26 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
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS eraKyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne
30 April 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophyKarine Nguyen, Natacha Broucqsault, Charlene Chaix, Stephane Roche, Jérôme D Robin, Catherine Vovan, Laurene Gerard, André Mégarbané, Jon Andoni Urtizberea, Remi Bellance, Christine Barnérias, Albert David, Bruno Eymard, Melanie Fradin, Véronique Manel
See the full list of authors22 April 2019
