Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar Mansour
See the full list of authors8 March 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit Mehta
See the full list of authors8 November 2023
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study – determination of immunogenicityDavid G Warnock, Eric L Wallace
8 April 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee
See the full list of authors12 March 2024
Iron and risk of dementia: Mendelian randomisation analysis in UK BiobankFrancesco Casanova, Qu Tian, Janice L Atkins, Andrew R Wood, Daniel Williamson, Yong Qian, David Zweibaum, Jun Ding, David Melzer, Luigi Ferrucci, Luke C Pilling
8 January 2024
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohortXiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan
31 January 2024
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndromeKerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton
See the full list of authors31 January 2024
Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variantsGabrielle Norrish, Marisa Gasparini, Ella Field, Elena Cervi, Juan Pablo Kaski
31 January 2024
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndromePauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
8 March 2024
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insightsBurcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
8 March 2024
